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  • Published: 03 February 2023

Addressing ethical issues related to prenatal diagnostic procedures

  • Dan Kabonge Kaye   ORCID: orcid.org/0000-0003-1490-859X 1 , 2  

Maternal Health, Neonatology and Perinatology volume  9 , Article number:  1 ( 2023 ) Cite this article

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For women of advanced maternal age or couples with high risk of genetic mutations, the ability to screen for embryos free of certain genetic mutations is reassuring, as it provides opportunity to address age-related decline in fertility through preimplantation genetic testing. This procedure has potential to facilitate better embryo selection, improve implantation rates with single embryo transfer and reduce miscarriage rates, among others, yet confers some risk to the embryo and additional costs of assisted reproductive technology. This raises questions whether, when and which patients should receive routine PGT-A prior to embryo transfer.

Prenatal diagnostic procedures refer to tests done when one or both genetic parents has a known genetic disorder (or has worries about the disorder) and testing is performed on them, their gametes or on the embryos to determine if the latter is likely to carry a genetic disorder. PGT is used to identify genetic defects in gametes or embryos (often created through in vitro fertilization (IVF). The procedures generate immense potential to improve health and wellbeing by preventing conception or birth of babies with undesirable traits, life-limiting conditions and even lethal conditions. However, they generate a lot of information, which often may challenge decision-making ability of healthcare providers and parents, and raise ethical challenges.

Prenatal diagnostic procedures have potential to address uncertainty and risk of having a child affected with a genetic disease. They, however, often raise own uncertainty and controversies, whose origin, manifestation and related ethical issues are presented. There is need to develop individual and couple decision support tools that incorporate patients’ values and concerns in the decision-making process in order to promote more informed decisions, during counseling.

Prenatal diagnostic testing include tests done on individuals, their gametes, embryos or unborn fetus with the purpose of detecting disorders, including certain hereditary or spontaneous genetic disorders. Prenatal genetic testing (PGT) is indicated in couples carrying balanced chromosomal translocation, since about half of the embryos would have chromosomal abnormalities, ad thereby contribute to implantation failure, early miscarriage or fetal anomalies. Such procedures include routine ultrasonography and certain blood tests (as part of routine prenatal care procedures) as well as, or as a precursor, to more invasive prenatal genetic tests (such as chorionic villus sampling, amniocentesis, and percutaneous umbilical blood sampling) [ 1 ]. The procedures may include genetic analysis of artificially fertilized embryos to select an embryo with a desired genotype before it is implanted. In in-vitro fertilization (IVF), PGT procedures are used to screen in-vitro fertilized embryos for their potential success in uterine implantation, in an attempt to improve pregnancy rates, and are indicated in cases of male infertility, advanced maternal age and recurrent miscarriage [ 2 ]. The goal of such testing is to determine better embryo selection, improve implantation rates with single embryo transfer and reduce miscarriage rates, thereby addressing age-related decline in fertility [ 1 , 2 , 3 ]. In addition, PGT reduces the risk of conceiving a child with genetic disorders, thus has potential to reduce rates of elective pregnancy termination for fetal/embryo abnormalities as the indication [ 3 , 4 ]. A strategy to combine screening for aneuploidy embryos with the routine in vitro fertilization (IVF) procedure is called preimplantation genetic testing of aneuploidy (PGD-A). This paper addresses the questions of whether, when and which patients should receive PGT-A prior to embryo transfer, and the implications for informed decision making. The more invasive tests are conducted when couples have an increased risk of a chromosomal disorder (particularly when the woman is 35 or older), or having a baby with the congenital anomaly such as a neural tube defect. [ 1 ]. The more invasive genetic tests and procedures conducted on the gametes and early embryos are referred to as pre-implantation genetic testing (PGT) [ 2 , 3 ]. These tests are routinely provided for couples who seek assisted reproductive technologies in Uganda.

Many pregnant women and couples are offered prenatal diagnostic procedures on request or are advised to have them conducted routinely. Before accepting or requesting for the tests, couples should discuss the risks with their healthcare practitioner and weigh the potential risks against their need to know, and should consider the effects of knowing the results on their wellbeing, as well as the implications of the knowledge gained on healthcare decisions [ 1 ] For some couples, the risks of undergoing the tests or knowing the results outweigh the benefits of knowing whether their baby has a genetic or chromosomal disorder, and may choose not to be tested [ 1 , 3 ]. There is limited information on individual and couple decision-making processes for prenatal diagnostic procedures including PGT [ 1 , 3 ]. Yet the increasing technical complexity and evolving options for PGT have implications for information processing and decision making for couples faced by decision regarding whether to authorize the tests and what decisions to take after knowing the results [ 4 , 5 , 6 ].

The factors which couples consider in decision-making could include motivation by prospects of a healthy, genetic-variant-free child, ability to commit time, financial resources and emotions, considerations for what would be done to the unused embryos or whether it is right to discard them, and the patients’ trust in and acceptance of results of the available technologies [ 5 ]. Such decisions are always complex for individuals and couples [ 5 ]. Not only is there scanty data on PGT decision-making processes, the available data is inconsistent, partly from failure to use validated instruments [ 5 ]. Couples' decision-making involves three dynamic dimensions: cognitive appraisals (subjective interpretation made by an individual to stimuli in the environment), emotional responses (the emotions an individual goes through after receiving information), and moral judgments (the process by which individuals define what is right or wrong) [ 6 ]. All these factors further compound the uncertainty for couples beset with making decisions about PGT. This paper analyses the issues of uncertainty that characterize prenatal diagnostic procedures in general and PGT in particular, with suggestions on how these could be mitigated, prevented or addressed.

Preimplantation genetic testing

Preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD) are terms traditionally used to describe genetic testing of embryos before a pregnancy is established [ 2 , 3 ]. While PGS was used to refers to screening for chromosomal disorders (such as Down syndrome), PGD was used to screen for genetic defects involving a single gene (such as cystic fibrosis) [ 3 ]. Currently, the term Preimplantation genetic testing (PGT) encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD), and is used to refer to all the series of tests performed to analyze the DNA from oocytes (polar bodies) or embryos (cleavage stage or blastocyst) for HLA-typing or for determining genetic or chromosomal disorders [ 2 ]. PGT includes PGT for aneuploidies (PGT-A) (previously called PGS or preimplantation genetic screening); PGT for monogenic/single gene defects, including autosomal recessive, autosomal dominant, and X-linked conditions (PGT-M); and PGT for chromosomal structural rearrangements (PGT-SR) (previously called PGS translocation) [ 2 ]. PGT is extremely useful in several situations: First, PGT is used in screening for couples in which one or both partners are carriers of an inherited genetic disorder, or suspect to have high risk of such inheritable disorders [ 2 , 3 , 4 ]. Secondly, PGT improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth [ 3 , 4 ]. Here, PGT enables the identification of embryos with specific disease-causing mutations and therefore transfer of unaffected embryos. For instance, PGT may be used where a couple carries a gene for specific disorders (such as hemoglobinopathies), where genetic testing is conducted on the embryo before implantation. Thirdly, PGT may be used to identify chromosomally normal embryos to transfer so as to achieve a normal pregnancy, after considering other factors such as high maternal age, the number and quality of embryos, the results of the embryo biopsies, and other fertility-related factors [ 3 , 4 , 5 ]. The technique provides a practical alternative to preconception diagnosis so as to prevent termination of pregnancy in couples with a high risk for offspring affected by a sex-linked genetic disease, mono-genetic disorders or autosomal dominant diseases such as myotonic dystrophy, Huntington’s disease and Marfan’s syndrome. For sex-linked diseases, the embryos are tested to ascertain the sex so that only female embryos are transferred. Genetic analysis may also be conducted at the single-cell level, where first and second polar bodies from oocytes or blastomeres from cleavage-stage embryos are assessed [ 3 , 4 , 5 ].

There are three main groups of disorders for which PGT is indicated. X-linked diseases are inherited from a mother who is a carrier, and are caused by an abnormal X chromosome and manifest in sons, who do not inherit the normal X chromosome from the father [ 7 ]. Since, the X chromosome is transmitted to offspring/embryos through the mother, affected fathers have sons who are not affected, while their daughters have a 50% risk of being carriers if the mother is asymptomatic [ 7 ]. Sex-linked recessive disorders include hemophilia, fragile X syndrome, most neuromuscular dystrophies [ 7 ]. PGT may be used to identify single gene defects such as cystic fibrosis, Sickle disease, sickle cell anemia, and Huntington disease, where the abnormal gene may be detectable with molecular techniques using polymerase chain reaction (PCR) amplification of DNA from a single cell [ 7 ]. Indications for prenatal diagnosis include women of advanced maternal age, history of an affected family member, couples with history of recurrent pregnancy loss, male partner with severe male factor infertility, and couples with repeated IVF failure [ 7 ]. PGT can decrease the risk of IVF failure by selecting chromosomally normal embryos with a higher chance of implantation and eventual pregnancy [ 3 , 4 , 7 ].

Prenatal diagnostic procedures during pregnancy

There are several diagnostic procedures that can be conducted during the first and second trimester of pregnancy. Screening during the first trimester usually consists of: 1) blood tests to measure levels of pregnancy-associated placental protein A (produced by the placenta) and beta-human chorionic gonadotropin in the pregnant woman’s blood; 2) Ultrasonography to assess for fetal nuchal translucency). Both tests are used to screen for Down Syndrome and certain other chromosomal disorders.3) Cell-free fetal nucleic acid [cfDNA] testing) may be done to determine the risk of Down syndrome and some other chromosomal disorders in couples with a high risk of having a fetus with a chromosomal disorder. One advantage of first-trimester screening is that with earlier results, abortion, if desired, can be done earlier, when it is safer.

During the second trimester, markers in the pregnant woman’s blood can be measured (and together with ultrasonography, can evaluate the risk that the fetus will have certain disorders. The tests include measurement of Estriol: formed from precursor substances produced by the fetus, Human chorionic gonadotropin (produced by the placenta), Inhibin A (produced by the placenta) and alpha-fetoprotein (a high level of which may indicate an increased risk of having neural tube defects of the brain or spinal cord (spina bifida), defects of the abdominal wall and intrauterine fetal growth restriction.

Uncertainty related to prenatal diagnostic procedures

Prenatal diagnostic procedures in general and PGT in particular generate a lot of uncertainty regarding decision-making. Individuals and couples think critically about uncertain information, contend with conflicting emotions, and combine moral perspectives into their decision-making about whether or not to accept PGT [ 1 , 6 ]. Decisional factors related to values about conception, disability, pregnancy termination, past pregnancy experiences, optimism toward technology and cost play a critical role in the decision-making process for PGT [ 8 ]. Other factors important in decision-making include opportunities for expanded carrier screening prior to in-vitro fertilization (IVF) itself, maternal age and knowledge about IVF and PGT [ 8 ]. There is limited opportunity to access decision support tools that incorporate patients’ values and past experiences in the decision-making process to promote a more informed decision [ 8 ]. Cost implications for PGT are critical: for instance, the cost to attain a 50% likelihood of a normal blastocyst may be up to 10 times higher older women (aged above 40 years) with low Anti-Mullerian hormone (AMH) levels when compared with the young women with high AMH values [ 9 ]. As a state, uncertainty may vary from falling short of certainty to an almost complete lack of conviction or knowledge specifically about an outcome or result, with inability to make a decision, or unwillingness to believe without conclusive evidence [ 10 ]. Uncertainty in healthcare is experienced by patients and healthcare professionals in differing ways, motivates diverse actions, and elicits diverse responses [ 11 , 12 , 13 ]. All screening tests harbor the prospect that uncertain information could arise. The data generated from prenatal diagnostic procedures implies that data of uncertain diagnostic significance, uncertain prognosis, or meaning that changes over time (as more knowledge becomes available) may be generated [ 6 , 8 , 9 , 10 ], with diverse ethical, legal and clinical implications. Uncertainty in prenatal diagnostic procedures is particularly related to communication (or failure to communicate) uncertain information [ 14 , 15 , 16 , 17 ].

Often times, families get concerned about conceiving and delivering a child who may have preventable genetic disorders or disabilities [ 17 ]. The parents may consider options such as pre-conceptional counseling, genetic or genomic testing and screening and prenatal non-invasive or invasive diagnostic procedures. The goal of all these is to prevent or identify fetuses that are affected with a certain undesirable trait so that parents may decide whether to conceive, terminate the pregnancy, or (if they opt to continue the pregnancy) to have the pregnancy as a high-risk pregnancy. The latter option involves preparations for pregnancy and eventual childbirth after appropriate counseling and support) [ 7 , 17 , 18 ]. Where the pregnancies are unaffected, the parents are given reassurance, which is beneficial for pregnancies with a high a priori risk [ 17 , 18 ].

There are several ethical issues related to use of this technology, often related to ethical implications of the results generated by the technology, particularly the potential for harm that may arise from decision-making. The technological advances may enable couples prevent birth of a child with undesirable defects, and from the societal value, can reduce the burden of genetic and hereditary disorders [ 17 , 18 ]. For instance, genetic testing may identify hereditary disorders such as hemoglobinopathies. Genetic testing can also be used to determine severity of disease [ 17 ]. For instance, there are over 2,000 different mutations in the gene that causes cystic fibrosis [ 7 ]. Not all of them cause disease, and of those that are disease-causing, different mutations cause different levels of severity of disease [ 7 ]. Genetic testing can be performed as part of a couple’s preconception care, usually carrier screening because one or both parents have a family history or an increased risk for having a particular mutation.

Prenatal diagnostic procedures generate a lot of data, which is the source of uncertainty.

Often, the genetic screening creates more uncertainty and raises ethical issues related to how to handle the information generated. Screening tests primarily target identification of chromosome disorders, notably Down syndrome (through a combination of maternal age, maternal serum biochemical tests, and fetal ultrasound) and single gene disorders with Mendelian patterns of inheritance, identifiable by screening for carrier status (such as hemoglobinopathies) [ 7 , 17 , 18 ]. However, few pregnancies can be identified as high-risk, depending on the population screened and the test protocols, yet the latter can be very costly [ 7 ]. For X-linked disorders, half of the discarded male embryos are normal, while half of the female embryos transferred may be carriers of the condition [ 19 ]. For Duchenne muscular dystrophy and fragile X syndrome, even half of female embryos may be affected [ 19 ].

In non-disclosure PGT as used for Huntington’s disease and some late-onset diseases, patients may not wish to know their carrier status but want to have disease-free offspring [ 19 ], such that embryos are tested without revealing any of the details of the diagnosis [ 19 ]. Using Human Leukcocyte antigen (HLA) testing, PGT may be undertaken to select embryos not affected with a disease, such as Fanconi anemia, but which have the same HLA type as an affected sibling [ 19 ]. In this case, a child is conceived to be used as a treatment for a sibling, thereby breaching the Kantian imperative that a person should never be used as a means. There is concern that that children conceived for the benefit of their siblings are not valued in their own right [ 19 , 20 ]. Should the latter child be informed that they were conceived primarily to provide therapy for an elder sibling? The counter argument is that all children may be valued, that the HLA stem cell child donor may even be more valued for having contributed to the health of a sibling, and that it may not harm either sibling if they are informed at the appropriate age [ 19 , 20 ]. Also, where the screening test is inconclusive, a definitive diagnosis through invasive tests, such as amniocentesis or chorionic villus samples (CVS) and karyotyping may be necessary [ 7 , 19 , 20 ], with additional cost and potential risk of miscarriage or maternal complications.

Additional non-invasive tests include screening for fetal cell-free DNA and RNA in maternal serum [ 20 , 21 ], where chromosomal aneuploidies such as Down’s syndrome can be identified by an abnormal ratio of different chromosomes [ 20 ]. These tests can be used to screen for several disorders [ 20 , 21 , 22 ]: a) presence or absence of male-specific (Y-chromosome) sequences may be used to assess fetal sex, useful for rare sex-linked inherited diseases that affect only one sex; b) Presence or absence of the RhD gene may be used to assed fetal RhD blood group status, which is useful for RhD-negative mothers at risk of RhD incompatibility reactions caused by RhD positive fetuses; c) presence (or absence) of corresponding sequences especially those inherited from the father of the fetus, may identify inherited genetic diseases. Prenatal screening and diagnosis may raise uncertainty. In these contexts, the options are to not get pregnant, continue a pregnancy while knowing the potential risks, terminate a pregnancy after an informed decision, or (in the case of a preimplantation genetic diagnosis), determining whether and which embryos to implant embryos or discard.

Types and implications of uncertainty posed by prenatal diagnostic procedures

Despite these potential benefits, technological advances have potential for causing more uncertainty and even harms. There is the ethical issue of the technological imperative [ 23 ], which suggests that since the technology is available, there are compelling reasons to use it, yet this needs to balanced again the patients’ best interests. Before conducting the tests, the doctors and their patients need to think through what the results might mean, and what decisions may be considered once the results become available, while considering the best interest of the unborn child as well. This standard may be difficult to apply and may not provide meaningful practical guidance in certain situations. To compound the uncertainty, it may be difficult to precisely define the ‘‘best interest’’ of an unborn child, how to determine best interests may be controversial, the nature of interests may be complex, and it is unclear what weight the best interest should have in the decision-making compared to social values [ 24 ].

Requirements for informed consent

There are additional challenges posed by this uncertainty. First, requirements for an informed consent imply that couples should have sufficient relevant information about the procedures, and that they understand potential risks and benefits, the decisions are voluntary and information on available options is discussed [ 24 ]. Where there are few genetic counselors with current information on screening protocols, it is unclear whether pregnant women are able to make informed choices about prenatal screening [ 7 , 20 , 24 ]. Where prenatal screening is part of routine prenatal care, couples may be unlikely to be offered opportunity for deliberate decisions about having prenatal screening [ 24 ]. Secondly, there is uncertainty related to what to do with the embryos that have disorders, leading to an ethical challenge of embryo wastage.

Accuracy and reliability of prenatal diagnostic procedures

There is uncertainty (and ethical issues) related to the accuracy and reliability of the tests: how good the test has to be to be used in different contexts, considering false positives, false negatives and the prevalence of the disorder under screening [ 7 , 20 ]. How much risk is the couple willing to take that the test is wrong and that they will conceive (or have) a child that might carry the genetic traits? Also, there is the uncertainty of penetrance for genetic diseases [ 7 , 20 , 24 ]. How certain must we be that the mutation will cause disease? For instance, different mutations of the cystic fibrosis gene have different risks of causing the disease, and some mutations for other diseases may cause disease at certain times (or situations) and not in others, making it difficult to predict whether a particular mutation will cause disease. This uncertainty becomes particularly important where one considers to perform an invasive test such as chorionic villus sampling and amniocentesis, which carry significant risks to the fetus or the pregnancy.

Uncertainty regarding sex selection and paternity testing

In addition, early sex identification available through the non-invasive prenatal diagnostics, may encourage sex selection by couples who would not have resorted to ultrasound or invasive tests for this purpose [ 19 ]. Use of PGT for sex selection unrelated to disease is controversial, as it leads to failure to implant normal embryos when they are found to be of the undesired sex [ 20 ]. This raises moral objections due to danger of sex discrimination. This is particularly problematic in societies which have a strong preference for boys [ 7 , 20 ]. Besides, the increased identification of fetuses with disorders, even borderline disorders, has the potential to increase numbers of pregnancy termination for medical reasons [18, 20, with potential increase in demand (from opponents of abortion) for restrictions on the women’s right to terminate pregnancy [ 7 , 20 ]. Another area of uncertainty and controversy that raises ethical concerns relates to potential use of non-invasive prenatal diagnostic for paternity testing [ 25 , 26 ]. This is ethically problematic in cases where paternity is uncertain and a woman uses results of such tests to opt for pregnancy termination [ 26 ].

Uncertainty of related to consideration of giving birth to individuals with disability

The ethical issues related to completeness, accuracy, and bias in the information communicated to couples is particularly important for a prenatal diagnosis of Down syndrome [ 27 ]. The real choice about giving birth to a child with a genetic or chromosomal disorder depends on more than the perceived availability of care and support for a child with a disability [ 27 ]. Some physicians and counselors often focus on the negative aspects of the associated disability, rather than providing all information for couples to make an informed decision [ 25 , 28 ]. Some parents may not mind having a child with the disability as long as complete information is availed to them to make informed decisions [ 25 , 28 ]. Increased testing accompanied by pregnancy terminations could potentially reduce the incidence and prevalence of some genetic or chromosomal disorders associated with disability [ 20 , 27 ]. Yet decline may negatively change public attitudes towards the hereditary disabilities specifically and all disability or handicapped in general, thereby reducing the moral worth of individuals with disability [ 25 , 28 ], especially where prenatal diagnostics are performed primarily to prevent birth of “disabled” babies [ 25 ]. This may lead to reduced understanding or support for affected individuals and their families [ 25 , 28 ].

Prenatal genetic testing at beginning of life raises controversy in certain situations. Questions arise on how bad (lethal, severe, or disabling) a condition should be in order to warrant testing. Disability communities differ regarding the ways in which they think about this question. Performing genetic testing to try to avoid a certain condition implies that the life of a person with that condition is not worth living [ 7 ]. How people think about that question depends partly on the type of condition being discussed, at what stage in the continuum from preconception to preimplantation to prenatal period the testing is done, and what test is performed. There is a big debate in the ethics community, society and popular media about the appropriateness of prenatal screening for disorders such as Down syndrome during pregnancy, and whether it's proper to take any actions to terminate pregnancies based on screening results [ 7 , 25 , 28 ]. There is also an ethically problematic issue of equity, related to access [ 20 ], as procedures may be costly to some population, especially where routine screening is not available, consequently adding to the already existing inequalities in access to care. This relates mainly to expanding testing and control over non-essential characteristics (those not required for life) in offspring. However, different individuals and communities have diverse personal, religious, ethical, and moral norms views and values, which should be respected must be given by healthcare professionals when discussing the performance of PGT for sex selection.

The uncertainty posed by mosaicism

Mosaicism describes presence of more than one type of cell in an embryo. For instance, an embryo may have some of the cells with 46 chromosomes, while other cells have 47 chromosomes, as in mosaic Down syndrome. In this condition, about 95% of affected individuals have trisomy 21 (with an extra chromosome in every cell), while 3–4% have translocation Down syndrome (where all or part of the extra chromosome-21 is attached to another chromosome), and 1–2% are mosaic (where some cells have 46 chromosomes and others 47 chromosomes). Mosaicism is usually described as a percentage; however, the percentage of mosaic cells may differ in the different tissues, implying that the percentage of mosaicism detected may depend on the tissue assessed [ 29 ]. Besides, the degree of mosaicism may vary with the stage of development at which embryo biopsy is conducted [ 30 ], as self-correction may occur as the embryo develops.

Uncertainty related to timing of prenatal genetic testing

Another area of uncertainty is when to test. Where a test can be performed at different stages of the continuum (preconception, pre-implementation, during pregnancy or postnatal), there is uncertainty about choosing the most appropriate time or tests. One may need to consider how bad (in terms of disability or life limiting) the condition be in order to warrant testing. How good should the test be? One wonders whether the stage (on the continuum) should matter. One relevant question is what types of conditions it is appropriate to test for [ 25 , 28 ]. One may consider whether the condition is lethal, serious life-limiting or just mildly disabling. One may also consider whether the medical conditions may or may not develop later in pregnancy or later in life, or whether if develops, it is life limiting, or may even never develop.

Additional uncertainty related to mandatory newborn screening

A key ethical and legal issue relates to the mandatory nature of newborn screening in some countries. It is relatively easy to justify mandatory newborn screening for conditions such as Phenylketonuria (PKU), because if the condition was identified before the baby becomes symptomatic, the baby would be treated to achieve a good outcome. The challenge is in screening for disorders where there is not enough evidence on effectiveness of the screening, and if this is mandatory, whether some form of parental consent is necessary. And one solution to address the above challenge is tiered screening, where there is mandatory screening for the conditions such as PKU (where there is good evidence to support population-wide screening and there's good treatment available for infants that are identified pre-symptomatically) and selected screening for other conditions where evidence is not as good, or where the potential benefit of identifying these babies in infancy is less clear. For the latter, parental consent may be necessary.

How to provide adequate counseling for mandatory screening presents its own uncertainty. A potential problem is that parents may lack knowledge about prenatal screening or newborn screening in general, and may be undergoing a stressful period, where it becomes difficult to fully comprehend the disclosed information and provide informed consent. While it may be a priority for prenatal screening, providing parents with information about newborn screening is not necessarily at the top of the list of what they need to know . Parents may not understand the need for screening for rare genetic disorders. Besides, even pediatricians and other healthcare providers who are caring for babies in the newborn period may have never seen many of these conditions, and do not fully understand the manifestations or health implications of these diseases. They may be unable to provide accurate information to parents when they have questions about prenatal genetic screening.

Uncertainty related to screening for late onset disorders prenatally or at birth

Additional ethical concerns relate to appropriateness of PGT or newborn screening for late-onset disorders. There may be opportunity to screen embryos during PGT (as in Huntington’s disease) or in the newborn period (such as for Pompe disease) [ 19 ] and other diseases in which a child can become symptomatic later on in life. Some affected individuals may have markers for diagnosis of the disease, but they may never become symptomatic. This raises ethical issues related to how much counseling for parents is adequate to enable them understand these complexities. The number of genetics professionals (both geneticists and genetic counselors) may not be adequate to cover the increased demand for services for newborn screening panels. This might delay diagnosis for more severe early-onset diseases, as focus is shifted to diagnosis of late-onset disorders (which may not be as severe or disabling, and may never manifest clinically).

The moral significance of uncertainty

Decisions taken after PGT should put in consideration the implication of mosaicism at a given stage of development when biopsy is undertaken, the risk of the findings as to how they may affect clinical outcomes, financial implications and ability to counsel patients [ 31 , 32 ]. Ultimately, the testing should be individualized to the needs of the couples. The moral significance of uncertainty is based on the concern whether moral judgment is accomplished by intuition or conscious reason [ 33 , 34 ]. The extent to which conscious reasoning, as opposed to intuition, plays a role in determining moral judgment, and whether moral judgment is a controlled or an automatic process are issues relevant to uncertainty and ambiguity [ 33 ]. And this uncertainty is related to four major concerns about prenatal screening [ 34 ]. First, autonomy and respect for persons, the future autonomy of the child to determine whether to have the test is removed. Nonmaleficence, from potential harm to the child, and to the family, in screening for these late-onset disorders. An asymptomatic child that is screened and then confirmed positive for one of these disorders (or family) may suffer anxiety or stigma and discrimination.

There is tremendous potential benefit in prevention of hereditary genetic or chromosomal disorders [ 34 ]. The potential benefit for screening for late-onset disorders is to avoid diagnostic challenges which may occur when the affected individual develops unclear symptoms, leading to several diagnostic tests in order to help ascertain the cause of the patients’’ symptoms [ 34 ]. The counter argument is that it is ethically challenging to justify creating and destroying embryos for the purpose of testing for late-onset conditions, some of which may never manifest or occur much later in life [ 34 ]. Besides, parents’ options include whether or not to transfer all ‘unaffected’ embryos: noncarriers as well as carriers, yet carrier embryos are likely to develop into healthy individuals and selecting against them potentially stigmatizes carrier status [ 34 ]. If the carriers are at risk of developing some symptoms of the disorder, there is some justification to discard carrier status embryos [ 34 ]. For disorders whose effective treatment is not available, the benefit is unclear, and for screening geared primarily for sex selection for no medical reason, it is ethically debatable whether this may be justifiable [ 34 ]. Another area of concern is justice related to access to care and human resources needed to implement the testing.

Implications for the need for decision-support tools for patients and clients

Availability and use of prenatal diagnostic procedures have potential to improve the quality of prenatal care, prevent hereditary genetic and chromosomal disorders and improve parental reproductive choices and decision-making. This has several implications for decision-making support [ 33 , 34 ]. First, there should be clear information packages to address uncertainty during counseling. The different techniques not only have false-positive rates, but also may be deleterious to embryo development, leading to miscarriage [ 33 ]. Secondly, should be clearly specified care pathways to aid decision-making, as well as practice guidelines and oversight to address the uncertainty parents and clinicians face when they use these technologies. Health professional education and public engagement efforts are critical for quality assurance in addressing the challenges and opportunities related to decision-making for using prenatal diagnostic procedures. Thirdly, the application of the new and higher performance technologies leads to identification of genetic variations, the biological and clinical importance of which may not sufficiently understood. Fourthly, there is also need to develop less invasive procedures to avoid embryo damage and wastage. Lastly, client concerns and values need to be incorporated in the decision-making process.

PGT and other prenatal diagnostic procedures have potential for creating uncertainty as well as being used for ethically controversial conditions. Therefore, there is need for regulation and oversight, with clear protocols and guidelines of when and how different procedures could be performed as well as implications of the different decisions that patients may make. Professional self-regulation is preferable, and health professions’ societies must provide more definitive guidelines in order for regulation to be effective. Different health professionals, including infertility specialists, physicians, and embryologists, obstetrician-gynecologists, geneticists, and genetic counselors, need to meet, map the landscape for prenatal diagnostic testing and develop consensus-based guidelines on prenatal diagnostic procedures, based on the perceived needs of their clients, need to advance the professions and social values of their communities, in order to address the uncertainty related to prenatal diagnostic procedures.

Availability of data and materials

Not applicable.


Anti-Mullerian Hormone

Chorionic Villus Sampling

Deoxyribonucleic acid

Human Leukcocyte antigen

In vitro fertilization

Polymerase Chain reaction

Pre-implantation genetic diagnosis

Pre-implantation genetic testing

Rhesus Disease

Ribonucleic acid

Preimplantation genetic screening

Phenyl ketonuria

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Kaye, D.K. Addressing ethical issues related to prenatal diagnostic procedures. matern health, neonatol and perinatol 9 , 1 (2023). https://doi.org/10.1186/s40748-023-00146-4

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Supported by

Guest Essay

I’m Thankful Every Day for the Decision I Made After My Prenatal Tests


By Amy Julia Becker

Ms. Becker, who writes about parenting, disability and religion, is the author of the forthcoming “To Be Made Well,” about what healing looks like on a personal and societal level.

Our 16-year-old daughter, Penny, wakes up to the beeping of her alarm. On her way downstairs, she picks up her iPhone to check her texts. She eats breakfast, gathers her sneakers and pompoms for cheerleading and heads to school. When Penny was diagnosed with Down syndrome a few hours after she was born, I didn’t expect our mornings to feel so ordinary.

When I was pregnant with Penny, I chose to receive a “quad screen,” an elective and noninvasive blood test around 16 weeks that looked for elevated levels of three different hormones and one protein. I soon learned I had a one in 313 chance of having a baby with Down syndrome, higher than expected for a woman my age. We followed up with a detailed ultrasound, which showed a “healthy baby.”

Penny was, indeed, healthy. After she was born, she received a robust eight out of 10 on her Apgar score, a test doctors administer to check the baby’s heart rate and other signs, and came home from the hospital two days later. She also came home with Down syndrome.

Many women whose prenatal tests looked similar to mine are counseled by medical professionals to pursue further diagnostic testing, and, with a confirmation of Down syndrome, to consider abortion. Every day, I’m glad I didn’t.

Prenatal testing has only increased in availability, prevalence and accuracy since I was pregnant with Penny. And while these tests can offer information about the chromosomal makeup of fetuses, prenatal tests cannot prepare parents for the hardships, fragility or wonder inherent within every human life. Testing rests on an assumption that desirable children conform to a norm of development, alongside a corresponding thought that undesirable children deviate from that norm cognitively or physically. You can see the result of these assumptions in the high abortion rates for fetuses with Down syndrome.

The assumptions behind our prenatal testing programs also condition parents — and society as a whole — to see our kids as valuable according to their physical strength, intellectual capacity and social acuity rather than setting us up to receive their lives as they are given.

We need to change our approach to prenatal testing by ensuring that pregnant women who receive prenatal diagnoses get accurate information about what it’s like to raise a child with a disability and expanding the awareness of our collective responsibility to welcome and support diverse lives.

Today, prenatal screening tests are up to 99 percent accurate in detecting fetuses with Down syndrome, and they are offered starting at nine weeks. The American College of Obstetricians and Gynecologists recommends presenting all pregnant women with the option of prenatal screening tests. Many choose to take them — in one study, 90 percent of pregnant women were offered these tests , and 78 percent of those chose to receive them.

The problem is, most physicians do not follow professional guidelines for how to offer the tests or discuss the results. This same 2016 study found that many physicians do not present these tests as a personal choice or talk about how the results might be used. The authors wrote that many women “report being unaware of what the test was for or what the results mean.”

The American College of Obstetricians and Gynecologists also recommends that doctors provide respectful, neutral counseling when discussing the options of continuing or terminating the pregnancy to every woman with a prenatal diagnosis of a genetic disorder or a major structural abnormality. According to the National Council on Disabilit y, 86 percent of medical providers talked about termination of the pregnancy after a prenatal diagnosis, whereas only 37 percent discussed continuing the pregnancy. Furthermore, genetic counselors and doctors who offer information overwhelmingly relate biomedical concerns without describing the social supports available for families, or the self-reported happiness of most people with Down syndrome.

In 2008, Congress unanimously passed the Prenatally and Postnatally Diagnosed Conditions Awareness Act, intended to ensure women receive accurate and up-to-date information about Down syndrome. But Congress never appropriated the funds necessary to put this law into action. Such funding could be used to provide balanced information about children with chromosomal conditions to medical providers, train health care workers to deliver prenatal diagnoses, and establish a hotline and other methods of support for women who receive a prenatal diagnosis.

The medical establishment assumes women want the option of abortion in the face of a positive test result. Indeed, 56 percent of Americans polled by Gallup in 2018 support women’s right to choose abortion in the first trimester when the child would be born with a mental disability, compared with 29 percent who said abortion should be legal in all circumstances. And while population-based studies have not been conducted to provide firm data about the effect of these new prenatal tests on termination rates, a comprehensive review of studies published from 1995 to 2011 suggests that 67 percent of American women who received Down syndrome diagnoses on prenatal tests had abortions.

I understand the fear many women feel in facing a prenatal diagnosis. I wish more of them knew that countless families with children with Down syndrome have lives marked by love and joy, lives that have been changed for the better. While I see every abortion as a tragic loss of life, I am especially saddened for the families who have chosen abortion because they feel scared or alone at the thought of raising a child with a disability.

These decisions appear to be individual ones, and yet every decision about whether or not to bring a child with a disability into our world is made within a social context. Women who choose to continue or to terminate pregnancies after receiving a prenatal diagnosis are not making solely personal decisions. They are making decisions that reflect their communal and social reality. These decisions both create and advance a less diverse world, a world less tethered to the limitations and vulnerabilities that invite us into relationships of mutual care and concern for one another.

If having a child with a disability is seen only as an individual choice rather than a socially supported and valuable way of being, we can imagine a future in which governmental support could be denied to women and families who “choose” to bring children with Down syndrome or other genetic conditions into the world.

Penny’s relatively ordinary life is due in large part to our own social situation. We live in a town with ample funding for special education. Penny received multiple therapies each week in her early years. She also has been expected and able to contribute to the life of her community. Those contributions are as ordinary as her mornings: A word of encouragement. An inability to hold a grudge. A love for nachos and Olivia Rodrigo and the color orange.

Done right, prenatal testing could allow parents to prepare well for the birth of their children. But without broad social acceptance of people with disabilities, without a medical establishment that conveys the positive social situations of many people with disabilities, and without funding for accurate and up-to-date information in the face of a prenatal diagnosis, more and more women will face decisions about their pregnancies without the support they deserve.

And the more we assume that prenatal diagnoses of Down syndrome will result in abortion, the more we will send a message to all our children that their worth depends on their ability to achieve. Instead of reinforcing structures that welcome only homogeneous bodies and minds as units of production, we need a system that supports and welcomes a diverse range of humans with their particular limits and struggles and gifts.

Amy Julia Becker is the author of “A Good and Perfect Gift,” “White Picket Fences” and the forthcoming “To Be Made Well.”

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Qualifying choice: ethical reflection on the scope of prenatal screening

Greg stapleton.

Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, GROW School for Oncology and Developmental Biology, Maastricht University, 6200 MD Maastricht, The Netherlands

In the near future developments in non-invasive prenatal testing (NIPT) may soon provide couples with the opportunity to test for and diagnose a much broader range of heritable and congenital conditions than has previously been possible. Inevitably, this has prompted much ethical debate on the possible implications of NIPT for providing couples with opportunities for reproductive choice by way of routine prenatal screening. In view of the possibility to test for a significantly broader range of genetic conditions with NIPT, the European Society of Human Genetics (ESHG) and American Society of Human Genetics (ASHG) recommend that, pending further debate, prenatal screening for reproductive choice should only be offered where concerning serious congenital conditions and childhood disorders. In support of this recommendation, the ESHG and ASHG discuss a number of ethical issues on which they prompt further debate: the informational privacy of the future child, the trivialization of abortion, the risk of information overload, and issues of distributive justice. This paper responds to this call with further reflection on each ethical issue and how it relates to the moral justification of providing couples with opportunities for meaningful reproductive choice. The paper concludes that whilst there may be good reasons for qualifying the scope of any unsolicited prenatal screening offer to serious congenital conditions and childhood disorders, if prenatal screening is justified for providing couples with opportunities for meaningful reproductive choice, then health services may have obligations to empower couples with the same opportunity where concerning other conditions.


Many health services provide some type of prenatal screening service that is routinely offered to women and their partners during antenatal care. Although there is much plurality in policy and practice between countries, it is common that a minimum set of screening options are provided. Typically, these include screening options for infectious diseases such as HIV, Syphilis, and Hepatitis B. They also include screening options for clinical conditions, namely rhesus D incompatibility, gestational diabetes, and pre-eclampsia. In these cases, screening is offered for the purpose of improving clinical outcomes for both the mother and the future child through the early detection of disease and timely provision of preventative treatment or therapy (HCN 2008 ; NICE 2008 ). Accordingly, participation in screening is often presented as a matter of course by the clinician. Yet, many health services offer an additional set of screening options where this would be inappropriate. These latter screening options address heritable and congenital conditions for which preventative treatment or therapy has limited effect or is unavailable altogether. This usually includes the following conditions: the trisomies Down syndrome (T21), Edward syndrome (T18), and Patau syndrome (T13); the hemoglobinopathies sickle cell disease and thalassemia; as well as structural anomalies including neural tube defects such as anencephaly and spina bifida (Godard et al. 2003a , b ; HCN 2008 ; NICE 2008 ). When screening is offered for these conditions international guidelines recommend that it should instead be aimed at providing couples with opportunities for reproductive choice of whether or not to have a child with a serious medical disorder (NCB 1993 , 2006 ; HCN 2008 ).

Up until recently, the range of heritable and congenital conditions for which prenatal screening could be offered remained somewhat limited. However, this is set to change significantly with the prospect that genome wide fetal profiling may soon be possible with Non-invasive Prenatal Testing (NIPT) (Wong and Dennis Lo 2016 ). Couples may then use NIPT to test for, diagnose, and make reproductive choices about a much broader range of (genetic) conditions. Not only might this be achievable much earlier during pregnancy than is presently possible but it may furthermore allow couples to circumvent the risk of iatrogenic miscarriage associated with using invasive diagnostic techniques amniocentesis or chorionic villi sampling, upon which current prenatal screening pathways are reliant (Alfirevic et al. 2003 ; de Jong et al. 2011 ; Tabor and Alfirevic 2010 ; Wong and Dennis Lo 2016 ).

In view of these developments, the European Society of Human Genetics (ESHG) and American Society of Human Genetics (ASHG) recommend that, pending further debate, prenatal screening should only be offered for reproductive choice where concerning serious congenital and heritable disorders that affect childhood (Dondorp et al. 2015 ). In support of this tentative recommendation, the ESHG and ASHG raise a number of ethical issues on which they prompt further debate: the informational privacy of the future child, the trivialization of abortion, the risk of information overload, and issues of distributive justice. This paper aims to respond to this call with further reflection on each ethical issue and how it relates to the moral justification of providing couples with opportunities for meaningful reproductive choice. The paper is primarily concerned with whether or not the structural directivity of the proposed scope for prenatal screening is justified in view of the aim of providing couples with opportunities for meaningful reproductive choice; conceptualized within this paper as informed and autonomous reproductive choices of whether or not to continue pregnancy, that enable couples to avoid suffering they anticipate for themselves and/or their future child (NCB 1993 , 2006 ; de Jong and de Wert 2015 ; HCN 2008 ). The following research questions are explored: what is the principle moral justification for providing couples with the opportunity for reproductive choice in the format of routine prenatal screening, where concerning fetal anomalies such as Down syndrome and neural tube defects? How might the justification apply to other conditions for which NIPT could soon be available? Is this consistent with the tentative recommendations presented within the joint ESHG and ASHG position paper on NIPT?

Prenatal screening for fetal anomalies

For most forms of screening, participants benefit from the early detection of disease and timely provision of preventative treatment or therapy. However, this may not always be the case where concerning screening for fetal anomalies such as Down syndrome and neural tube defects. For these conditions preventative treatment or therapy may have only a limited effect or is perhaps unavailable altogether. As a consequence, couples may receive few practical courses of action other than to decide whether or not to terminate the pregnancy. This has prompted considerable debate over why prenatal screening for conditions that are generally not preventable might be offered in the first place (Clarke 1997 ; de Jong and de Wert 2015 ; Juth and Munthe 2012 ; Munthe 2015 ; van El et al. 2012 ; Wilkinson 2015 ). In relation to this question, several justifications are readily discussed within ethical debate. Generally speaking, these correspond to one of two conflicting frameworks: (1) where preferred reproductive choices may be promoted by the health service provider (a directive framework) and (2) where preferred reproductive choices should not be promoted by the health service provider (a non-directive framework). In the following section, justifications associated with either framework will be discussed.

The directive framework

During the early development of prenatal screening programmes that targeted fetal anomalies, prenatal screening was routinely offered for objectives that implied that couples should participate in order to avoid the birth of an affected child (Centerwall 1970 ; Navon and Padeh 1971 ; Stein 1975 ; Stein and Susser 1971 ). This directive approach has been justified for three principle reasons. First, selectively aborting fetuses with conditions for which prenatal and perinatal prevention is generally not possible could help to avoid suffering for the future child (Clarke 1997 ; Green 1997 ). The emphasis of this appeal is on preventing future persons from having to endure particularly severe physical and psychological suffering that might be associated with some heritable or congenital disorders. Clarkeburn ( 2000 ) argues that parents who are aware they are at risk may have moral (non-legal) obligations to participate in prenatal screening where concerning severe health conditions for which many might consider life not worth living. Clarkeburn suggests that only for conditions characterized by significant levels of intellectual disability and continuous non-palliative pain would it be reasonable to believe that non-existence is in the best interests of the future child ( 2000 ).

The appeal to ‘avoid suffering’ is also used in another justification for offering prenatal screening. However, within this second justification, the concept of suffering does not relate to the wellbeing of the future child, but instead, concerns the psychosocial health of prospective parents and their family. The main concern relates to the anguish and grief that a couple may experience as parents of a child whose suffering cannot be prevented (Clarke 1997 ). However, unlike the previous appeal to avoid the suffering of the future child within this latter justification women have no moral obligations to consider screening. The offer may instead be viewed as a form of paternalism. This justification is often cited in support of offering screening for conditions that might qualify as a life not worth living. However, it may theoretically be applied to any condition where it is reasonable to expect significant levels of distress may be experienced by prospective parents. For example, the principle is also relevant in cases where couples (and their families) may primarily feel burdened by obligations towards providing care and support for their child, rather than, by the child’s suffering (Faden et al. 1987 ; Lippman 1991 ).

The third justification for offering screening for reproductive choice is that this may lessen the overall burden of disease on society (Clarke 1997 ; Juth and Munthe 2012 ; Stein 1975 ; Stein and Susser 1971 ; Wilkinson 2015 ). Unlike the personal appeals to avoid suffering, justifications based on the social utility of women’s reproductive choices are highly impersonal and only indirectly concerned with the wellbeing of each couple and their future child. The primary concern is that screening is organized in a way that maximizes its benefit to society (Wilkinson 2015 ). An extreme application of this principle can be seen within some economic evaluations of prenatal screening programmes. For example, in a critical review of the economic appraisal literature, Mooney and Lange ( 1993 ) raise concern about the use of models that derive benefit from women electing to terminate an affected pregnancy (i.e. it is assumed there is no benefit from screening if women do not abort affected fetuses). Such models differ in their assessment of the women’s utility based on the condition for which screening is offered and the number of ‘healthy’ replacement pregnancies occurring after an abortion (e.g. 0, 1, or 1 < X). Mooney and Lange point out that within these models ( 1993 ): “ [benefits] take the form of various savings in public expenditure (e.g. health services), in family expenditure on the child, in avoided lost maternal output and the child’s consumption of other goods and services ” ( 1993 , p. 874). Accordingly, greater levels of directivity may be preferred when offering screening for conditions which require more expensive medical care and social support.

Counter perspectives

Objections to offering prenatal screening for fetal anomalies generally focus on the disproportionality of benefits and harms received by different stakeholders when preferred reproductive choices are promoted by the health service provider. These objections are associated with fetal rights, feminist, and disability rights perspectives (de Jong and de Wert 2015 ; Johnsen 1986 ; Parens and Asch 2003 ; Wertz and Fletcher 1993 ). From the fetal rights perspectives, the life of the unborn fetus is considered sacred. Abortion is therefore inherently wrong. Since prenatal screening ‘for reproductive choice’ provides couples with an ‘opportunity’ for an abortion, health services are thought to be complicit in this wrong. Whilst this applies to the provision of any opportunities for reproductive choice, when the opportunity is presented in a way that promotes the use of abortion (e.g. such as within an unsolicited screening offer as opposed to following personal enquiry) health services hold a higher level of responsibility for wrong doing. Screening for reproductive choice is therefore less objectionable when it does not influence the autonomy of couples’ reproductive decisions. From the most extreme fetal rights perspective, the fetus has a moral status equivalent to that of any adult person. Accordingly, abortion is generally viewed as the moral equivalent of murder. Screening for reproductive choice would therefore be highly problematic in all but a few very rare cases where either the life of the expectant mother is threatened or the life of the fetus would not be considered worth living (Clarkeburn 2000 ). Although this position is sometimes dismissed as religious dogma, it has been argued by appealing to the similarity of both developmental origins and potential futures jointly shared by the fetus and adult person (Gill 2005 ; Marquis 1989 ). In contrast, more moderate perspectives assign a lower moral status to the fetus based on growing biological and psychological similarities between the fetus, newborn, and adult. From this less radical perspective, the moral status of the fetus gradually increases throughout its development. Yet, greater emphasis is placed on later stages of pregnancy (Gillespie 1977 ; Steinbock 2011 ). Whilst abortion is still considered to be a controversy option, a considerably more lenient view is taken on when it might be acceptable, and therefore, when prenatal screening for reproductive choice might also be acceptable.

The disability rights perspective is primarily concerned with the issue of bias (Kaposy 2013 ; Reinders 2000 ). More specifically, why screening for reproductive choice might be offered for some conditions but not for others? In the context of prenatal screening for Down syndrome, some families affected by Down syndrome have argued that the condition does not prevent them from leading worthwhile and fulfilling lives. It has been suggested that the most significant source of suffering for many affected families is stigma, discrimination, and the general lack of inclusiveness within society (Brasington 2007 ; Cunningham 1996 ). In cases where suffering may be avoided through social interventions, offering screening for reproductive choice would not appear to be about serving the needs of the future child and/or prospective parents, but rather, about lessening the burden of disease on ‘the rest’ of society. If screening for reproductive choice is offered for this reason, it conveys a discriminatory message about people living with the condition (Holm 2008 ; Parens and Asch 2003 ). For example, in their article on the preventability of Down syndrome, Stein and Susser suggest that prenatal diagnostic testing should be offered to older pregnant women as one of four preventative measures to reduce the incidence of Down syndrome among new born populations. In support of this position, they problematize the increasing longevity of people living with Down syndrome, stating that “ But whatever is done, the survivors continue in a state of permanent dependence that imposes a severe burden on their families and on existing forms of social organization.” (Stein and Susser 1971 , p. 650). They clarify “ The goal of public health in such a situation must be prevention, and preferably primary prevention, that is, the reduction of the incidence of the disorder by action taken before it becomes manifest. ” (p. 651). Whilst it may be unintended, these statements convey a discriminatory message: ‘people’ with Down syndrome are a burden on ‘the rest’ of society, and therefore, unwelcome. However, prejudice may not always be conveyed overtly. Offering screening for reproductive choice may still be problematic if health services are organized inequitably. This might apply to screening that is offered in the context of diminishing investment in care and support for affected families, or alternatively, if access to abortion services is conditionally linked to a diagnosis of disability.

From a feminist perspective, any offer of prenatal screening for reproductive choice where preferred reproductive choices are recommended by the health service provider may threaten women’s reproductive rights and freedoms (Johnsen 1986 ). Reproductive decision making, especially when concerning abortion, should remain a voluntary and highly personal practice that reflects the biological role that women play during reproduction and takes into account the way that women experience pregnancy (Dondorp et al. 2015 ; Lippman 1991 ; HCN 2008 ; Rothman 1986 ; Wertz and Fletcher 1993 ). Any suggestion that women should participate in screening in order to avoid the birth of an affected child might pressure women into distressing and emotionally burdensome decisions which they may later come to regret. Such pressure might not only be the result of an explicit recommendation. It is also possible that health policy contributes to a coercive social context for making reproductive choices. For example, providing access to abortion services only in cases of disability or reducing investment in care and support for affected families may lead to social pressures towards making certain reproductive choices and not others. However, the feminist position is not categorically opposed to the offer of screening for reproductive choice. Instead it is suggested that many women positively value the opportunity that an offer of prenatal screening provides (Lippman 1991 ; van Schendel et al. 2014 ; Wertz and Fletcher 1993 ).

The non-directive framework

In view of these objections, international guidelines now recommend that screening for reproductive choice should only be offered within a framework of non-directivity. If screening for reproductive choice is offered within a non-directive framework it would seem much harder to claim that health services convey a discriminatory message about individuals with disabilities or promote the subjugation of women’s reproductive autonomy. This position is endorsed within guidelines for responsible screening published by health authorities in the UK, the Netherlands, and within many other Western countries (de Jong et al. 2011 ; Godard et al. 2003a , b ; HCN 2008 ). The two most characteristic features of this framework are that health services should adopt a position of neutrality with respect to the outcomes of couples’ reproductive choices (i.e. there are no preferred pre- or post-test choices) and should support couples in making informed and autonomous reproductive choices in line with their own values of whether or not to have an affected child (HCN 2008 ). For example, in the report ‘ Screening: Between hope and hype ’, commissioned by the Health council of the Netherlands, it is argued that although screening may not always benefit participants in terms of improved health outcomes, participants may still derive some (personal) utility through the provision of reliable information upon which an informed and autonomous reproductive choice can be made ( 2008 ). This concept of utility differs from that adopted within the directive framework which is mainly focused on the utility of reproductive outcomes. The directive framework is broadly based on normative criteria first articulated by Wilson and Junger in 1968, before prenatal testing for fetal anomalies was widely available (Andermann et al. 2008 ; Wilson and Jungner 1968 ). Wilson and Junger endorse the use of a conservative concept of utility that is primarily about preventing disease through early detection and timely provision of treatment or therapy. Screening programmes with this aim are typically assessed in terms of the overall reduction in mortality, morbidity, and quality of life. In contrast, the concept of utility applied within the non-directive framework is about providing couples with opportunities for meaningful reproductive choice; generally understood as informed and autonomous reproductive choices of whether or not to continue with pregnancy, that enable couples to avoid suffering they anticipate for themselves and/or their future child (de Jong et al. 2011 ; Dondorp et al. 2010 ; Wilfond and Thomson 2000 ).

Ethical challenges

As argued by de Jong and de Wert, moral objections to offering prenatal screening are weaker when it is the couple and not the state that decides whether or not to avoid the birth of an affected child ( 2015 ). To ensure that health services remain impartial with respect to couples’ (pre- and post-test) reproductive choices whilst also supporting them in making meaningful reproductive choices, international guidelines recommend that several criteria should be met. First, health services should make it clear to couples that prenatal screening is offered in order to provide them with an opportunity for making meaningful reproductive choices about whether or not to continue with an affected pregnancy and that they may freely decide to accept or decline the offer. This recommendation applies most critically to communications between the physician and the expectant couple. However, it is also intended to apply to policy, educational materials, and other documentation in which the purpose of screening may be addressed. The main ethical concerns are that women and their partners are fully informed of the aim of screening, that they may be confronted with challenging information, and that they understand that they are free to make their own reproductive choices. Second, additional services that actively support couples in making meaningful reproductive choices should also be provided. In this respect, health services should ensure the quality of screening options offered, provide non-directive pre- and post-test counseling, provide educational support, and maintain equitable access to follow-up services (e.g. services for abortion and services that provide care and support to affected families) (NCB 1993 , 2006 ; HCN 2008 ; PCEPBR 1983 ).

Although there is broad consensus that where prenatal screening for reproductive choice is offered it should be offered within a non-directive framework, at present there remains much debate as to whether principles of non-directivity should also be applied to the scope of prenatal screening. With respect to this issue, ethical debate on the offer of prenatal screening appears polarized between providing couples with ‘pure choice’ and ‘qualified choice’ in what to screen for (de Jong and de Wert 2015 ; Munthe 2015 ; Wilkinson 2015 ). For proponents of pure choice, non-directivity is applied in its most absolute sense. The structural directivity of an unsolicited, yet, qualified prenatal screening offer ‘for the purpose of reproductive choice’ is therefore problematic (for reasons conveyed by fetal rights, feminist, and disability rights perspectives). In contrast, for proponents of qualified choice, the structural directivity of a qualified offer is justifiable as long as couples are still able to make meaningful reproductive choices about whether or not to have an affected child. As a result, some variant of the non-directive framework is used to determine which screening options should be offered. In relation to this issue, the ESHG and ASHG discuss several ethical issues in support of offering prenatal screening only where concerning serious congenital and childhood disorders: the informational privacy of the future child, the trivialization of abortion, the risk of information overload, and issues of distributive justice (Dondorp et al. 2015 ). These ethical issues will now be discussed within the following commentary where justifications for qualified choice will be examined with respect to the principle justification for offering prenatal screening; to provide couples with opportunities for meaningful reproductive choice.

The informational privacy of the future child

The idea of limiting the scope of screening in order to protect the informational privacy of the future child relates to the concern that children may (later on) learn of personal health information that was attained by their parents during prenatal screening. The main ethical issue is that children may experience psychosocial distress from foreknowledge that they may later develop a disorder for which (primary) prevention is unavailable. The breach of informational privacy is sometimes discussed in terms of a violation of the child’s right to an open future (i.e. to choose for themselves whether to know about the condition) (Andorno 2004 ; BSHG 2010 ; Wright 2009 ). Although this concern is primarily associated with screening for adult onset conditions, it is also relevant for sub-clinical conditions that might go undiagnosed during childhood but the label of which may still cause some psychosocial harm or impinge upon a person’s right to informational privacy (Dondorp et al. 2015 ).

Whilst the idea of protecting the future child from psychosocial and informational harm has strong moral appeal, it is not fully apparent how it should be taken into account in view of the aim of offering prenatal screening. For example, why might any appeal to protect the informational privacy of a (possible) future child represent a more convincing objection to couples’ having the opportunity to make meaningful reproductive choices about adult onset conditions and sub-clinical conditions, than the appeal to protect the presumed interests of the (existing) fetus in becoming that future child? If providing couples with the opportunity for meaningful reproductive choice through routine prenatal screening is justifiable for any condition where the life of the (possible) future child does not qualify as a life not worth living, health services must presumably adopt one of the following assumptions: either the fetus has no ‘interests’ to be considered, which will include any future privacy interests, or alternatively, the interests of the fetus are conditional on couples’ meaningful reproductive choices, in which case, health services will have a pro tanto reason to discount them when offering prenatal screening. Certainly there is a conditional risk associated with participating in prenatal screening for adult onset conditions and sub-clinical conditions; a risk that is entirely contingent on couples electing not to terminate an affected pregnancy following prenatal screening. This represents a challenging ethical issue. Since any risk to the future child will be conditional on couples’ reproductive choices, not offering prenatal screening to protect (possible) future children may imply that health services are not aiming to provide couples with opportunities for reproductive choices that are meaningful to them for avoiding suffering.

In view of the conditionality of the risk to the future child, some directivity with respect to the safe use of prenatal screening for adult onset conditions and sub-clinical conditions would seem justifiable in order to discourage couples from participating, for example, if they do not intend to avoid the birth of an affected child (Bunnik et al. 2013 ). For these conditions, the aim of prenatal screening should be more about ensuring that couples have the opportunity to make a meaningful pre-test reproductive choice that takes into account the seriousness of any conditional risk to the future child. It would therefore seem appropriate that these screening options are not offered within the same normative framework used to offer other prenatal screening options that do not carry a conditional risk to the future child. When considering this issue, it could be justifiable to refrain from making an unsolicited offer of screening for adult onset and sub-clinical conditions during routine antenatal care. Yet, if health services genuinely aim to provide couples with the opportunity to make meaningful reproductive choices, then health services may have obligations to ensure that couples are similarly empowered where concerning adult onset and sub-clinical conditions. One way in which this might be achieved would be to only offer such opportunities following personal enquiry. In this respect, the offer would no longer be unsolicited yet couples that anticipate suffering for themselves and/or their future child may still be provided with an opportunity for making a meaningful reproductive choice about adult onset and sub-clinical conditions. If such an approach would be adopted, it would seem advisable to ensure that couples’ have sufficient capabilities to anticipate suffering for themselves and/or their future child where concerning adult onset and sub-clinical conditions. A practical solution to this issue would be to develop strategies that engage couples prior to conception in order to more effectively educate and counsel them on their opportunities in preparation for pregnancy.

Information overload

Although there are different interpretations of what information should be provided in order to attain informed consent, there is general agreement that health services should present couples with relevant information about (1) the characteristics of any condition for which screening is offered, (2) the characteristics of any screening tests that are offered, and (3) the implications of any test results that may follow (van den Berg et al. 2005 ). Accordingly, as the scope of screening expands the amount of information that each couple must process is likely to increase. The central ethical issue here is the risk of uninformed reproductive choice. Couples who become confused, distressed, or overwhelmed by the level or complexity of post-test information provided may be unable to make choices that are consistent with their own values. However, information overload is also an important pre-test concern during the offer of screening, where there is an additional risk that couples may simply become burdened by the level of choice on offer (Bunnik et al. 2013 ). Couples that experience this issue may be unable to fully understand the implications of their pre-test choices and the risks associated with participating in screening.

Given that the risk of information overload is likely to be exacerbated if more numerous kinds of conditions with dissimilar implications are included within the scope of screening, there is a strong moral imperative to prioritize conditions to be included within the scope of prenatal screening. Yet, at the same time, limiting the scope of screening in order to reduce the risk of informational overload may also increase its structural directivity. This places significant moral importance on what criterion might be used to include or exclude a condition from the scope of screening and why. In relation to this issue, it would not be appropriate to ‘rank’ conditions according to the utility that avoiding the birth of an affected child may have for couples (Mooney and Lange 1993 ). Although this may be intuitive, assuming a priori which reproductive outcomes would avert most suffering conflicts with the principle aim of providing couples with opportunities for meaningful reproductive choice. In line with principles of non-directivity, health services should not convey the message that terminating an affected pregnancy will benefit either the prospective parents or future child in terms of avoiding suffering. Although this would be considered least problematic where concerning conditions that qualify as a life not worth living, the issue remains that couples should have discretion to make such value judgements for themselves. The principle concern here is that the ‘seriousness’ of each reproductive outcome for avoiding suffering should be determined by each couple in view of their own personal situation and not assumed by the health service on behalf of all couples.

Yet, it would seem unproblematic to assess screening options according to couples’ informational needs where concerning the implications of each reproductive outcome for the future child and for themselves (Pergament and Pergament 2012 ). For example, screening for conditions that are characterized by more severe levels of intellectual disability and greater levels of continuous non-palliative pain may provide couples with a strong indicator of the quality of life of the future child, and thus, be more informative. Screening for conditions where there are more significant obligations for parents, in terms of the provision of care and support, may also be more useful. Whereas, screening for conditions where quality of life of the future child is more significantly determined by individually affecting social factors may be least useful to couples. Since most couples will be familiar with such factors before the offer of prenatal screening they may already have sufficient capabilities to make meaningful reproductive choices about them. Therefore, an unsolicited screening offer may provide them with little added value over and above making prenatal screening services for the same conditions available upon request.

The trivialization of abortion

In a study of public viewpoints, Farrimond and Kelly report that “…fears about trivialisation are linked to the rejection of ‘ picking and choosing’ and a valuation of natural diversity such as disability. As such, trivialisation fears are not fears about having greater information per se, but are rather the fear of the ‘trivialisation of abortion’ (de Jong et al . 2010)” ( 2013 , p. 740). Trivialization fears appear to represent a general concern that screening for reproductive choice may empower couples in using abortion for unimportant (i.e. not for avoiding suffering) or for discriminatory reasons. Concerns have also been raised over the additional harms that ‘trivial’ reproductive choices may have in society, such as a loss of ‘natural’ diversity or a perceived public endorsement of discriminatory views. Such harms are primarily referenced in objections to offering screening for non-medical traits (Hall et al. 2009 ; Wright 2009 ). Although it would be preferable to avoid these harms, it is difficult to understand why they might only be problematic when screening is offered for non-medical traits. For example, evidence indicates that some women who engage in screening for the purpose of sex-selection may do so in order to avoid suffering they anticipate for themselves and/or their future child (Puri et al. 2011 ; Raphael 2002 ; Wertz and Fletcher 1998 ). It may therefore not be so apparent that a couple’s reproductive choices where concerning non-medical traits are always unimportant. Yet, if the main ethical concern is that the offer of screening may falsely convey an endorsement of discriminatory views, then it would be necessary to explain why this might be unproblematic where concerning conditions for which screening might still be offered (e.g. Down syndrome).

A possible defense to this latter charge might be to argue that the public only perceive such an ‘endorsement’ when screening is offered for conditions that conflict with their own norms and values relating to ‘important’ reproductive choices. Within a recent attitudinal study on NIPT, Dutch women suggested that they preferred the idea of offering screening for “severe or fatal disorders that could lead to the early death of a child or to a very low quality of life” (van Schendel et al. 2014 , p. 1349). Van Schendel et al. further report that “ Participants also feared a so - called ‘slippery slope’, which could lead to people starting to test for minor abnormalities, gender or for cosmetic traits like blond hair and blue eyes . ” (van Schendel et al. 2014 , p. 1348). If such views are indeed widely shared then it could be argued that only where screening is offered for non-medical traits would a discriminatory message be conveyed. Yet, noting that discrimination which may only be perceived by minority groups is discounted within such an argument, additional inconsistencies are also apparent.

Although findings from attitudinal studies indicate that screening for serious medical conditions is widely preferred, it is not clear that all participants are quite so opposed to couples receiving greater levels of individual choice. Van Schendel et al. states that “[the participants] argued that even though it might be possible to determine whether an unborn child has a severe disorder, a prenatal test like NIPT cannot predict its severity or the quality of life of the child. Moreover, participant’s stated that quality of life is a relatively subjective concept and differs per person, which all makes it very difficult to decide whether to test and to continue with the pregnancy or not. Nevertheless, many participants felt that women should be able to make their own decision about what to test for and what not to test for” (van Schendel et al. 2014 , p. 1349). A more radical acceptance of individual choice is evidenced in a study by Farrimond and Kelly who note that for a minority of their participants “ There is a clear prioritisation of parental choice about NIPD (67: + 5): ‘it should be the parents’ decision what tests to have and what they want to do with the results’ (P22, female, currently pregnant).” (Farrimond and Kelly 2013 , p. 739). Farrimond and Kelly go on to clarify that: “ Furthermore, they agree with expanding testing to include sex determination and testing for non - medical conditions, both rejected in all other factors (4: + 6*; 7: − 5): “it’s their choice to make” (P10, female, two children) .” (Farrimond and Kelly 2013 , p. 739). In view of these findings, it is less obvious that social norms and values will conflict quite so strongly with the full range of screening options that could be offered.

Perhaps a more reasonable objection to offering screening for non-medical traits may be possible which neither discounts any discrimination that may be perceived by minority groups nor implies that a couple’s reproductive choices are always trivial where concerning such conditions. In view of reported findings from attitudinal research in Western countries, it would seem that the majority of couples would not wish to use prenatal screening where concerning non-medical traits for the purpose of avoiding the birth of an affected child (Faden et al. 1987 ; Harrington et al. 1996 ; van Schendel et al. 2014 ). A much more reasonable complaint may then be that routinely offering screening for the purpose of reproductive choice where concerning non-medical traits, may burden important antenatal services that should be prioritized for couples with greater need of them. The more prominent role of personal, individually affecting, social determinants of suffering for non-medical traits, means that couples are unlikely to benefit from an unsolicited screening offer (and the provision of associated services for educational support and counseling) over and above making prenatal screening available following personal enquiry. In this respect, a more reasonable objection to routinely offering screening for non-medical traits might be that this could ‘trivialize’ the provision of an important antenatal service and undermine public solidarity towards providing couples with opportunities for meaningful reproductive choice.

Issues of distributive justice

The main issues of distributive justice discussed within the bioethics literature relate to the question of whether or not the use of scarce public resources for the provision of prenatal screening is justifiable in view of public health priorities. Debate of these issues is primarily polarized by an ethical tension between conflicting moral imperatives that both serve the aim of providing couples with opportunities for meaningful reproductive choice. Within the bioethics literature there is broad consensus that a publicly funded prenatal screening programme aimed at promoting ‘pure choice’ is unjustifiable (Clarke 1997 ; de Jong and de Wert 2015 ; Munthe 2015 ; Wilkinson 2015 ). This is contested for two principle reasons. The first relates to ethical issues that have been discussed previously within this paper: Offering pure choice could enable couples to make trivial reproductive choices (the trivialization of abortion), reproductive choices with that may harm future children (the informational privacy of the future child), or result in uninformed reproductive choices (information overload). In view of these ethical issues, de Jong and de Wert argue that prenatal screening should instead be aimed at “ enabling individual pregnant women (and their partners) to make meaningful reproductive choices with regard to having or not having a child with a serious disorder or disability. ” ( 2015 , p. 50). De Jong and de Wert clarify that “ This can be seen as a combination of the second and third candidate goals of prenatal screening as distinguished by Clarke [1. Spare public resources; 2. Avoidance of suffering; 3. Promotion of informed reproductive choices], qualifying the latter (no ‘pure autonomy’) and adding to the former that ‘avoidance of suffering’ need not only refer to possible suffering of the future child, but may as well refer to the impact of the birth of a child with a disorder or handicap on the life of the woman, the couple, or the family.” ( 2015 , p. 50). Although this is currently the preferred normative framework in many Western countries (HCN 2008 ), concerns have been raised that qualifying choice to ‘serious disorders or disabilities’ will not adequately reflect the heterogeneity of meaningful reproductive choices that couples may wish to make given the opportunity (Dondorp et al. 2015 ; de Jong and de Wert 2015 ; Munthe 2015 ). This point is further emphasized when considering some of the problems associated with arguments supporting qualified choice that have been discussed previously within this paper. Screening may therefore incorporate a structural directivity that conflicts with the objective of providing couples with informed and autonomous reproductive choices that are meaningful to them for avoiding suffering. This may be especially problematic within contexts where screening for conditions that fall beyond the scope of publicly funded prenatal screening programmes is also unavailable privately.

The second issue relates to the problem of offering pure choice responsibly within a context of resource constraint. The costs associated with offering pure choice within a morally justifiable framework are thought to be prohibitive and generally unjustifiable in view of opportunity costs (e.g. funding the provision of care and support for people affected by serious disorders or disabilities). Munthe suggests that offering pure choice may only be ethically responsible when health services ensure equal levels of access and basic knowledge about services, require greater initiative to be taken by couples in seeking and requesting prenatal screening, and maintain adequate levels of non-directive pre- and post-test counseling (Munthe 2015 ). Munthe points out that “ It will be very expensive to maintain the required adaptability of testing - kits and sufficient standards of counselling. Mere promotion of reproductive autonomy will hardly serve to justify such costs in a public priority - setting context . Focusing on the new PNT [Prenatal Testing] as a source of liberation and self - determination thus rather drives a notion of it as a reproductive information technology to be used by people outside publicly funded services.” ( 2015 , p. 43). However, it has been noted that inequalities in opportunity for meaningful reproductive choice are likely to develop if access to prenatal screening is left to commercial providers (de Jong and de Wert 2015 ; Munthe 2015 ; HCN 2008 ). Such inequalities would seem especially problematic where concerning more serious disorders and disabilities, over which the majority of couples appear to be concerned (Faden et al. 1987 ; Harrington et al. 1996 ; van Schendel et al. 2014 ). When considering the strong preference towards more serious medical conditions, the number of couples that will need to access prenatal screening for meaningful reproductive choice outside of a public funded screening programme targeted at serious disorders and disabilities is likely to be minimal.

Ethical debate on issues of distributive justice reveals conflicting moral imperatives that both serve the goal of providing couples with opportunities for meaningful reproductive choice. On the one hand, prioritizing more serious medical disorders may serve the majority’s needs yet at the same time it may increase the structural directivity of any publicly funded prenatal screening service. On the other hand, broadening the scope may lessen the structural directivity of screening but may burden services that facilitate couples in making meaningful reproductive choices and expend scarce public resources that could be used to tackle public health priorities (such as providing care and support for families affected by serious disorders or disabilities). Presently, there appears to be no ‘ideal’ criteria readily available that may be used to balance these competing imperatives. Whilst prenatal screening is organized under the ethos of providing couples with opportunities for meaningful reproductive choice, the structural directivity associated with qualifying choice to include only serious congenital and childhood disorders is likely to remain a controversial practice. However, such ethical tensions may be resolved if the offer of prenatal screening is instead aimed at empowering couples with sufficient capabilities for making meaningful reproductive choices. Implied by this aim is that the scope of screening should not be about promoting meaningful reproductive choices as understood by the health service provider or general public, but rather, should be about ensuring that couples are sufficiently capable of anticipating (and avoiding) suffering for themselves and/or their future child. Another (significant) implication of this framework is that couples should have the opportunity to make meaningful reproductive choices about conditions that fall beyond the recommended scope of serious congenital and childhood conditions. Further ethical debate is necessary on how access to such opportunities may be provided and whether there may be pro tanto reasons for prohibiting it within certain social contexts.

Concluding remarks

Whilst collectively, ethical challenges associated with the informational privacy of the future child, information overload, the trivialization of abortion, and issues of distributive justice may provide good reasons for qualifying the scope of any routine prenatal screening offer to serious congenital conditions and childhood disorders, they do not represent coherent moral objections to providing couples with the opportunity for making meaningful reproductive choices about other conditions. If the use of public health resources is justified for providing couples with opportunities for meaningful reproductive choice through the offer of prenatal screening, then public health services may have obligations to similarly empower couples where concerning conditions that fall beyond the scope of serious congenital conditions and childhood disorders. Ensuring that couples have opportunities for making meaningful reproductive choices about conditions for which prenatal screening is not routinely offered may lessen ethical tensions relating to the structural directivity of the offer. One way in which this could be achieved would be to offer couples the opportunity to screen for such conditions following some form of personal enquiry. Couples that anticipate suffering for themselves and/or their future child may then have the opportunity for making meaningful reproductive choices. If such an approach were to be adopted, it would seem advisable to develop strategies to educate and counsel couples prior to conception in order to ensure that couples have sufficient capabilities to anticipate suffering for themselves and/or their future child. Inevitably resource constraints, and limits set by the risk of information overload, will require priority setting. Whilst prenatal screening is offered for the purpose of providing couples with opportunities for meaningful reproductive choice, qualifying choice to serious congenital and childhood disorders is likely to remain a controversial practice. Ethical tensions associated with the structural directivity of qualified choice may however be resolved if prenatal screening is instead aimed at empowering couples with sufficient capabilities for making meaningful reproductive choices. This alternative position appears more compatible with an ethos of non-directivity yet also justifies the structural directivity of qualified choice.


The author would like to acknowledge the expertise offered by Guido de Wert and Wybo Dondorp in the development of this work.

Compliance with ethical standards

Conflict of interest.

The author declares that they have no conflict of interest.

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Essay on Prenatal Screening Tests

Every parent, regardless of biological background, has a strong desire for a healthy child. However, abnormalities during fetus growth have become a common phenomenon due to physical, chemical, and radiation factors. Biological factors such as genetic mutation, which causes increased mental retardation and abnormal body growth, bring trouble to the child’s future growth and development. Scientific innovations and modern technologies in the medical field have developed different screening techniques to detect fetus abnormality before baby delivery. Blood testing and ultrasound techniques of prenatal screening tests are essential in determining blood type, Rh factor, and fetus abnormality, although such screening tests can place a pregnancy at a high risk of infection, premature rupture of membranes, bleeding, and even loss of the pregnancy.

Prenatal screening such as blood and ultrasound tests helps detect the blood type and Rh factor’s compatibility of the mother and the fetus. Blood testing prevents pregnancy complications caused by an antigen-antibody reaction of the Rh factors group of the mother and that attached to the fetus, which can result in fetus health complications such as hemolytic anemia (Nshimyumukiza et al. 12). Besides, blood testing helps in detecting blood-borne diseases such as Hepatitis B, HIV, and Rubella. Ultrasound can help in determining the growth and development of a fetus during pregnancy. According to Chitty medical experts can use Ultrasound to detect structural defects such as anencephaly and spinal Bifida, cleft lip, congenital heart, kidney malformations, and gastrointestinal defects. When some health complications are detected through prenatal screening tests, immunosuppressed drugs can help boost the fetus’s immune system.

Prenatal testing comes with more genetic risks due to its invasive nature. Blood and Ultrasound tests can place a pregnancy at a high risk of premature rupture of membranes, loss of the pregnancy, excessive bleeding, and infections. A research study conducted on the effects of prenatal screening tests among Latino Americans women found that prenatal testing may cause increased stress and anxiety among parents if abnormalities pose significant risks to the pregnancy (Chitty et al. 161). Parents may feel angry, anxious, guilty, or depressed about their prenatal results. In some instances, prenatal testing such as blood testing can create increased tension and negative relationship because the results can reveal unknown information about family identities. Prenatal testing procedures that require a buccal smear or blood sample carry real risks of miscarriage since it involves extraction of amniotic fluid sample around the fetus.

To have or not to have prenatal tests wholly lies on the mother’s decision. Nshimyumukiza et al., denotes that women may decide not to have prenatal tests because they may not get adequate information about prenatal testing, particularly invasive tests that are likely to harm the fetus. Some women may skip prenatal tests after learning about the risks such as premature rupture of membranes, loss of the pregnancy, excessive bleeding, and infections. Prenatal testing may jeopardize people’s physical health, privacy, and financial well-being.

In summary, prenatal testing techniques such as blood and Ultrasound tests provide a suitable background for understanding fetus blood type, Rh factor, and other abnormalities—that may put the future of mother and fetus at a higher risk. However, some of the risks associated with prenatal testing, such as loss of the pregnancy, excessive bleeding, and infections, can make a woman have a false impression and negative attitude towards prenatal screening tests. Medical experts need to provide suitable answers about the importance of having prenatal tests to help parents better decide whether or not to have prenatal screening tests.

Works Cited

Chitty, Lyn S., Louanne Hudgins, And Mary E. Norton. “Current Controversies in Prenatal Diagnosis 2: Cell‐Free DNA Prenatal Screening Should Be Used to Identify All Chromosome Abnormalities.”  Prenatal Diagnosis  38.3 (2018): 160-165.

Nshimyumukiza, L., et al. “Cell‐Free DNA Noninvasive Prenatal Screening for Aneuploidy Versus Conventional Screening: A Systematic Review of Economic Evaluations.”  Clinical Genetics  94.1 (2018): 3-21.

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The prenatal diagnosis Essay Example

The prenatal diagnosis Essay Example

  • Pages: 4 (1028 words)
  • Published: November 8, 2016
  • Type: Case Study

The epitome of family love and life itself is having a child. A being, completely having split characteristics of both the mother and the father, is being housed inside its own planet, the mother’s uterus. There is nothing more perfect and complete than seeing this offspring that the mother and father took care of for nine months go out in the world and say hello to life. God graces us with such beauty, and to also serve as a means to keep the species alive. However, there are inevitable circumstances, which albeit we terribly do not want it to happen, happen without us knowing it. Sometimes, a child is born with a genetic defect.

A defect that hampers the child’s growth and development, a hindrance to one’s optimal level of well-being, a sign of abnormality. We do not want this, even if we

are passionate about life preservation, our hearts cannot take the sorrow seen in the parent’s eyes. We know that science can do something about it. Hence, the wonderful physicians and medical researchers came up with prenatal diagnostic testing. Advancement in medical technology is enabling us to test for certain diseases or anomalies like PKU, trisomy 21 or Down’s Syndrome, among many others, even when the child is still inside the mother’s womb as a fetus.

But the tests have its price, which is why most physicians would first weigh the risks and the benefits before conducting these prenatal diagnostic tests for genetic abnormalities. Genetic abnormalities are a result of gene alterations or chromosomal abnormalities, according to Bullock (Bullock, 2000). Because of the recent discoveries in genetics, these disorders,

some of them at least, can be detected at certain fetal ages. The alpha-fetal protein test is a test for neural tube defects (Kaplan, 2007).

Neural tube defects are birth defects of the brain and the spinal cord; examples include spina bifida and anencephaly (National Institute of Child Health and Human Development, 2008). Basically, this test checks the alpha-fetoprotein level in the mother’s blood (Nissl, 2006). High alpha-fetoprotein levels indicate an abnormality. This test is done when the fetal age is about 16 to 18 weeks, and there is a high incidence of false-positives (Kaplan, 2007). Another prenatal test is called the chorionic villus sampling.

Usually performed between 10 to 12 weeks of pregnancy, chorionic villus sampling is done by taking a sample of a part of the chorionic villi (The Merck Manuals, 2003). This test can determine the presence of sickle-cell anemia, PKU, Down’s syndrome, Ducheme muscular dystrophy, among many others (Kaplan, 2007). Amniocentesis, a procedure wherein a needle is used to obtain a sample of amniotic fluid, is usually done at 16 weeks of pregnancy to determine genetic disorders and at 30 weeks to determine lung maturity (Kaplan, 2007).

These prenatal diagnostic tests are indeed important to prevent and detect certain genetic abnormalities. The early detection and prevention of these guarantee relief and a worry free pregnancy. Pregnancy causes anxiety, especially when one does not know how the baby is fairing in terms of survival and health inside the womb. Knowing what to do and what not to do, knowing that there is actually something that as a parent you can do to make your child healthier is something that

these tests give you. However, physicians know that although these tests are very useful, there are risks involved.

The procedures are all invasive. In the process, they can introduce bacteria and other foreign substances to the mother’s body. In doing the amniocentesis and the chorionic villus sampling, an ultrasound is needed as a guide to prevent trauma to the fetus, for there is an increased risk of limb defects (Kaplan, 2007). Complications for the chorionic villus sampling include bleeding, spontaneous abortion, and rupture of membranes (Kaplan, 2007). The risk for miscarriage after this test is done is around one in a hundred (Better Health Channel, 2007).

Side effects include light-headedness, abdominal discomfort, menstrual cramp like pain, and because these tests are just like any other tests, there is a possibility of inaccuracy (Better Health Channel, 2007). Also, it is imperative that a blood sample be taken before this test because an Rh-negative mother should receive Rhogam after chorionic villus sampling to prevent Rh isoimmunization (Kaplan, 2007). Amniocentesis poses more threats; miscarriage being the most alarming one. Infection is also a complication, most especially if introduced directly inside the uterus.

As per any health concerning decision, physicians are to tell the patients all of the possible complications that can occur with any procedures. Still, the patient still gets to decide what to do, with the guidance of the consultation that they had with their doctors. There is one thing that these tests assure us though, that the benefits totally outweigh the risks. And I hold a strong conviction for that too. First of all, I believe that although we would accept any kind

of human being that God gives us, with or without defects, it is also important that we give that child the kind of life he or she deserves.

Having been born with a genetic defect, especially when you very well know that it could have been prevented, declines the quality of life that person could have enjoyed. Aside from that, financial wise, healthcare is now becoming too costly for middle class people to even bask themselves in, and it will be a burden. I think that it would be cheaper to prevent an abnormality from occurring than health maintenance, especially if the child will have to be taken care of for the rest of his or her life.

Third, I believe that the complications regarding the tests can be prevented and its occurrence is so minimal that it can be ignored. The timing of conducting these tests and the skill of the operator will lessen complications. Life is possibly the most precious gift that we can ever get. It’s priceless and everything that we experience in it can never be taken away from us. Medical technology and research is giving us more and more reasons to enjoy life and to actually save more unborn children from harm. The benefit of having lived a normal, worry free and enjoyable life definitely outweighs the risks.

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Essays on Prenatal Testing

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Prenatal Testing and Screening

How Racism Affects the Mental Health of Black Youth

Mental health experts assumed that people of all races had the same risk factors for self-harm -- emerging evidence suggests that is not the case. (Julien James/The New York Times)

O n Sept. 25, 2023, the Biden-Harris administration announced that it will be investing some  $200 million  in the youth mental health crisis. Since youth mental health was declared a national  emergency  in 2021, multiple experts, including the U.S.  Surgeon General , have cited social media and the COVID-19 pandemic, among other things, as major contributing factors. 

But what has not been talked about to the same extent, is how anti-Black racism is fueling the youth mental health crisis. Racism has a crucial impact on the mental health of Black youth, and the current mental health system is not equipped to address it. 

As a child and adolescent psychiatrist, I’ve witnessed the depressive, even suicidal effects of racism on Black youth. The kindergartener who was sad and withdrawn for weeks after her white classmates said her skin was too dark to play with them. The fourth grader who said she wanted to die because her white neighbors told her that her black skin was ugly. The affluent high schooler who was hospitalized after a suicide attempt because she was ostracized by her peers and excessively punished by teachers at her predominantly white prep school. Each time, I was the only mental health clinician involved who cited the crucial contribution of anti-Black racism in their mental health assessment. Interpersonal experiences of anti-Black racism play a large role in the mental health of Black youth, and the current youth mental health crisis, but they are largely left out of the conversation in the mental health field.  

The truth is that the effects of racism on the mental health of Black Americans start even before birth. The stress of racism experienced by Black mothers has been linked to  low birthweight  babies, which puts those children at  greater risk  for developing depression and other child mental health issues. Prenatal anti-Black racism can also have other persistent effects. Maternal reports of racism affect the socio-emotional development of Black children in their first year of life, with links to  negative emotionality . 

Yet another indication that the distinct experiences of racism in America affect Black birth outcomes in ways that do not apply to other racially minoritized groups: Foreign-born Black mothers who experience better birthweight outcomes lose the “healthy immigrant effect” after only  one generation , according to a 2020 study published by Princeton University, while foreign-born Hispanic mothers retain it for generations. 

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Indeed, Black children and adolescents are suffering at unprecedented rates, and have been for over 20 years . Black youth are dying by suicide at rates increasing faster than any other racial or ethnic group: Black children as young as five years old are 1.8 times as likely to commit suicide compared to their white peers. The suicide rates of other ethnic groups, except for Latinx and American Indian/Alaskan Native youth, have remained virtually the same or declined , even from 2019 to 2020 in the height of the pandemic.

Read More: The Physical Toll Systemic Injustice Takes On the Body

By preschool age , Black children have their own experiences of anti-Black racism, in addition to those of their mothers and families. One study showed that anti-Black racist beliefs emerge as early as age four. In particular, white children have been found to have more negative attitudes towards Black peers and prefer white over Black children as playmates. Black children experience racism from adults, as well, and are disciplined more harshly in schools from an early age. Black preschoolers, especially Black boys, are significantly more likely to be expelled than white peers. This is not surprising given that teachers complain more about the behaviors of Black boys and white adults view them as more dangerous than their white peers.

Although sometimes overlooked, Black girls are not spared, receiving  harsher school  discipline compared to white girls. This criminalization of Black students leads to  poor grades  and overall school performance, which have been associated with low self-esteem, depressive symptoms, and even  suicidality .  

These “zero tolerance policies” in schools lead to children, especially Black children, being expelled, suspended, or even arrested by cops in schools. It also puts them at greater risk of being funneled into juvenile detention system, a racist phenomenon known as the school-to-prison pipeline , and is linked to  higher rates  of depression in Black males. Many of these children have learning problems and are struggling from abuse and neglect.  In other words, they need psychiatric, not punitive, measures.

The harsh punishment of Black children is  intertwined  with the phenomenon of “adultification,” the perception of Black kids as being older and more mature than they are.  Adultification  has anti-Black racist origins dating back to enslavement , and is a major contributor to Black children being not only criminalized, but also hypersexualized at an earlier age than their white peers. A 2020 Georgetown study found that Black girls as young as five and as old as 19, were viewed to be more knowledgeable about sex and less in need of nurturing and protection than their white female peers. This can lead to Black children receiving less emotional support than white children, which can in turn increase the risk of depression, stress, and suicidality.   

As Black children age into adolescence, like all children, their social and cognitive abilities increase, including  abstract reasoning .  This development enables them to be increasingly  attuned  to experiences of anti-Black racism—which, on average, they report experiencing five times a day . But, even children in the preadolescent age range, from ages nine to 12, report  increased suicidality  with experiences of anti-Black racism and more experiences of racism overall compared to non-Black youth. In young adulthood, around ages 18 of 25, experiences of anti-Black racism continues to be predictive for  depressive symptoms  and  suicidal ideations .

 The racist mutigenerational wealth gap also continues to harm Black youth and families, playing an undeniable role in the declining mental health of Black youth. (It is tied to suicidality , as well.) But poverty is not the whole story. Higher socioeconomic status was associated with  greater depressive  symptoms in Black children living in predominantly white neighborhoods compared to those living in predominantly Black areas. For white youth, greater parental education was associated with fewer depressive symptoms. In Black youth, however, the opposite was true; one 2015 study found that Black youth with highly educated parents had higher depression and higher perceived lifetime discrimination scale ratings. These findings suggest that experiences of racism outweigh the protective effects of parental education. 

Anti-Black racism is a driver of the Black youth mental health crisis, separate from socio-economic status, and solutions are urgently needed to tailor the mental health treatment of Black youth. Research funding is necessary for further studies examining the impact of anti-Black racism on child mental health throughout development. The topic remains understudied and underfunded, especially for very young children. We also need more funding for anti-Black racism-conscious mental health treatment tailored to Black youth—staffed by mental health clinicians who have expertise in providing anti-Black racism targeted care. Some organizations already exist, such as the AAKOMA Project , Therapy for Black Girls, and the National Black Child Development Institute, but there are not enough.

Standardized medical education does not teach the mental health effects of anti-Black racism, so traditionally trained psychiatrists are ill-prepared to help Black children navigate these harmful complexities. Curricula for psychiatrists that specifically deal with anti-Black racism are very limited, with only a  few published  in the literature. I was fortunate to study under one of these, the  Social Justice  Health Equity Curriculum at Yale Department of Psychiatry. The landscape is gradually changing, with an  increasing number  of medical schools working to educate students and residents about the impacts of racism.  For example, an anti-racism curriculum tailored to child psychiatry, the  first known  of its kind, was piloted at UCLA in 2021. 

But education is just the start; accountability is also necessary. Mental health clinicians cannot provide anti-Black-racism-informed care for children if they are engaging in racist behaviors themselves. Leaders of mental health institutions, like hospitals and clinics, must take an active role in ensuring that, when Black children do seek help, that their mental health is not further harmed by racism in medical care. Black children are more likely than white children to be diagnosed with  stigma-laden  disruptive mood disorders and  physically restrained  in emergency departments, so it is crucial that leaders ensure anti-racist hiring practices and reporting systems are in place to recruit and retain staff. When racist behaviors do occur, leaders need to hold mental health staff accountable, even if it means penalizing highly prized colleagues or close friends. 

The youth mental health crisis will not end until the mental health of all children stabilizes. I refuse to let Black children be left behind—and that means facing anti-Black racism head on. 

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    Essay On Prenatal Diagnostic Testing 1114 Words5 Pages The prenatal diagnostics and prenatal screening being routine procedures should be considered as advantage of modern medicine. It helps to reveal wide spectrum of fetus abnormal conditions, but not only congenital defects and malformations.

  17. Essay On Prenatal Testing

    563 Words 3 Pages Open Document Wat potential bearing do these prenatal test have on the value of life? Prenatal testing is essential, as our world evolves so do we as humans. We are curious creatures, always searching for more. More knowledge, more acceptance, more money, more glory, more love.

  18. Prenatal Diagnosis

    Prenatal Diagnosis Improved Essays 772 Words 4 Pages Open Document Essay Sample Check Writing Quality Show More Prenatal testing when being marketed tells the expectant mother that it gives accurate information about her health and also that of her baby.

  19. Prenatal Diagnostic Testing

    Advancements in prenatal diagnosis in the past decade have enabled clinicians to accurately diagnose genetic abnormalities in the fetus earlier and without risk of miscarriage as is associated with amniocentesis and chorionic villus sampling.

  20. The prenatal diagnosis Essay Example

    The prenatal diagnosis Essay Example 🎓 Get access to high-quality and unique 50 000 college essay examples and more than 100 000 flashcards and test answers from around the world! ... These prenatal diagnostic tests are indeed important to prevent and detect certain genetic abnormalities. The early detection and prevention of these guarantee ...

  21. Prenatal Diagnosis

    Powerful Essays. 5727 Words; 23 Pages; Open Document Analyze This Draft. Open Document Analyze This Draft. Prenatal Diagnosis. View Writing Issues. File. Edit. Tools. Settings. Filter Results. ... File. Edit. Tools. Settings. Filter Results. Prenatal Diagnosis. Chapter 1 THE PROBLEM AND ITS SETTING Introduction Caring behavior is an essential ...

  22. Prenatal Testing Essay Examples

    Essays on Prenatal Testing 3 samples on this topic The array of written assignments you might get while studying Prenatal Testing is stunning. If some are too bewildering, an expertly crafted sample Prenatal Testing piece on a related subject might lead you out of a dead end.

  23. Prenatal Diagnostic Paper

    Prenatal diagnosis has become of of the most important factors of the obstetrics practice, it diagnoses any complications or possible disorders, especially trisomy 21 (Down's syndrome) of the unborn baby. ... Pre-Implantation Genetic Diagnosis Essay. With the completion of the Human Genome Project in 2003, we were given the ability to ...

  24. How Racism Affects the Mental Health of Black Youth

    The truth is that the effects of racism on the mental health of Black Americans start even before birth. The stress of racism experienced by Black mothers has been linked to low birthweight babies ...