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Prenatal screening and prenatal diagnosis: contemporary practices in light of the past
  1. Ana S Iltis
  1. Correspondence to Dr Ana S Iltis, Department of Philosophy and Center for Bioethics, Health and Society, Wake Forest University, 1834 Wake Forest Rd, Winston-Salem, NC 27106, USA; iltisas{at}


The 20th century eugenics movement in the USA and contemporary practices involving prenatal screening (PNS), prenatal diagnosis (PND), abortion and preimplantation genetic diagnosis (PGD) share important morally relevant similarities. I summarise some features of the 20th century eugenics movement; describe the contemporary standard of care in the USA regarding PNS, PND, abortion and PGD; and demonstrate that the ‘old eugenics’ the contemporary standard of care share the underlying view that social resources should be invested to prevent the birth of people with certain characteristics. This comparison makes evident the difficulty of crafting moral arguments that treat some uses of PNS, PND, abortion and PGD as licit and others as illicit.

  • Ethics

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The 20th century eugenics movement in the USA (and possibly some other high-income countries such as Great Britain and Canada) shares important morally relevant similarities with contemporary practices surrounding the use of prenatal screening (PNS), prenatal diagnosis (PND), abortion and preimplantation genetic diagnosis (PGD).1 ,2 The goal here is not to deny differences or to identify similarities to use the term ‘eugenics’ ‘like a club’.3 Instead, the goal is to interrogate taken-for-granted professional practices and public policy regarding PNS, PND, abortion and PGD. Efforts to distinguish the old eugenics from contemporary practices rely in part on specific differences between the two to show that contemporary practices do not share particular problems of the past. It is instructive to see whether these purported differences withstand scrutiny. Those that do not, provide us with reasons to revisit the present.

First, I briefly introduce the 20th century eugenics movement in the USA and then characterise the contemporary ‘standard of care’ in the USA (and many other high-income countries) regarding PNS, PND, abortion and PGD. Then, I demonstrate that both the ‘old eugenics’ and today's practices share important similarities. An assessment of some of the arguments offered to distinguish between the past and present morally reveals these similarities and the difficulty of crafting arguments that treat some uses of PNS, PND, abortion and PGD as licit and others as illicit.

The 20th century eugenics movement in the USA

Three generations of imbeciles are enough—Oliver Wendell Holmes Jr.4

In 1883, Francis Galton introduced ‘eugenics’ to refer to the ‘well born’.5 By the early 20th century, the ‘socially inadequate’, including persons ‘pre-disposed’ to criminal activity, the promiscuous, the mentally ill and individuals with limited intellectual ability were deemed ‘defective’ as a result of genes they inherited. They were thought to be at risk for passing these failings on to their children.6 The term ‘eugenics’ has long referred to a broad class of views and activities related to altering the human gene pool.7 ,8 Multiple approaches were defended to prevent future generations from being saddled with a poor genetic inheritance, with some groups disagreeing vehemently with each other.9

Concerns over costs various groups imposed on society prompted much of the interest in eugenics in the USA10 Numerous organisations, such as the Eugenics Record Office, were formed to reduce the incidence of ‘birth defects’.11 State laws calling for the forced sterilisation of the ‘socially inadequate’ were passed, enforced and upheld by the US Supreme Court.4 For several decades, these practices continued, often disproportionately affecting the poor and people of colour.11 North Carolina, for example, had an active eugenic sterilisation programme that lasted from 1929 to 1974 and affected approximately 7600 people.12 ,13

Not all eugenicists advocated for forced sterilisation.8 ,13 Some held that medical students should be taught to counsel patients on eugenics to prevent transmission of inherited deficiencies.11 By informing and educating the public, individuals would make the ‘right’ choice about sterilisation.14 Others, such as Alexander Graham Bell, sought to dilute the effect of bad genes by encouraging people with poor genes to marry better people thereby improving the overall quality of the population.11 Margaret Sanger, who founded Planned Parenthood, claimed that both the eugenics and birth control movements sought ‘to assist the race toward the elimination of the unfit’.15 Sanger noted that ‘the campaign for Birth Control is not merely of eugenic value, but is practically identical in ideal, with the final aims of Eugenics’.16 Many in the eugenics movement rejected Sanger's defence of birth control.17

Contemporary policies and practices involving PNS and PND

In high-income countries today, efforts to reduce the incidence of birth defects involve improving preconception health, good prenatal nutrition, use of prenatal vitamins, screening and treatment for conditions such as gestational diabetes, and safe labour and delivery environments, as well as PNS, PND, abortion and PGD. PNS includes serum screening of maternal blood and ultrasound to detect fetuses at increased risk for aneuploidies (an abnormal number of chromosomes, as in Down syndrome) and other anomalies, such as neural tube defects.18 A positive screen does not mean that the fetus has the condition, and a negative result does not mean that the fetus does not have it. False-positive screening results are not uncommon.19–22 Generally, it is recommended that positive screening results be followed by PND. PND involves the use of chorionic villus sampling or amniocentesis, both of which are invasive and carry risks to the fetus, to examine the chromosomes to detect aneuploidies as well as Mendelian disorders such as cystic fibrosis and Tay–Sachs disease, among others.

Non-invasive prenatal screening (NIPS) involves drawing blood from a pregnant woman and examining the cell-free fetal DNA in her blood to detect aneuploidies.18 Because NIPS is more accurate than traditional maternal serum screening, some people treat the results as they might treat a diagnostic test result.23 NIPS comes with a high rate of false positives, meaning that people may terminate healthy pregnancies thinking the fetus has an anomaly.24–26 This confidence in NIPS results is understandable given that marketing materials for NIPS refer to these screenings as 99% specific.27 This means that the screen rarely misses an anomaly, but it does this by capturing many cases in which there is no anomaly.28

Today, it is widely recommended that all pregnant women be offered screening for Down syndrome (Trisomy 21), other aneuploidies and other anomalies within the first few weeks of pregnancy.18 ,29 ,30 Although the concept of ‘standard of care’ is complex, in many high-income countries PNS and PND are part of routine obstetric care, and often these services are covered by governments and private insurers per clinical practice guidelines and other professional recommendations.18 ,31 ,32 Failure to provide the standard of care leaves physicians vulnerable to malpractice lawsuits.33

PGD involves the use of in vitro fertilisation (IVF) to create embryos; one or two cells are removed and studied to detect chromosomal abnormalities, such as aneuploidies, or Mendelian conditions such as cystic fibrosis. PGD can be used to select the embryos that will be transferred to a woman; the others typically are discarded or used for research. PGD also has been used to have a child who will be a suitable human leukocyte antigen (HLA) match for a sibling who needs a stem cell transplant and to detect embryos that are unaffected carriers of conditions such as haemophilia.34 ,35 The possibility of using next generation sequencing to obtain the entire genome of embryos has generated discussion.36

Physicians, genetic counsellors and other clinicians who provide PNS and PND results to pregnant women are expected to disclose information in a neutral way without encouraging any particular action. Non-directiveness was adopted to emphasise that abortion decisions were personal decisions and clinicians could not make those choices or be responsible for them.37 ,38 Because the relationship between geneticists and eugenics was well known, there was a strong desire to separate genetic counselling from the eugenics movement so that the former would be seen as a legitimate health profession.37 ,39 The connections between the past and present often are not acknowledged today, though the relationship between eugenics and genetic counselling has been well documented.39–43

Despite the emphasis on non-directiveness, there are many ways—some subtle and others not subtle—in which clinicians may communicate an attitude or recommendation.7 ,44 ,45 By providing certain kinds of information and not others, clinicians can intentionally or unintentionally recommend choices. The framing of information can have a similar effect. Many people have expressed concern that most or all of the information that accompanies a screening result that indicates an elevated risk of Down syndrome or a PND of Down syndrome is negative; rarely is positive information about families that include a disabled child included.46–49 This can direct parents to a particular decision—abortion. In at least one US state (Massachusetts), a law requires more balanced and comprehensive information upon positive prenatal Down syndrome screen or diagnoses.50 The Massachusetts Down Syndrome Congress, an advocacy organisation, reports an increase in referrals to its organisation from healthcare professionals subsequent to the new law.51 There are reports of obstetricians who refuse to continue caring for pregnant women who decline to terminate their pregnancies after serious anomalies were diagnosed prenatally.52 The professional requirement of non-directive counselling is not always met.53 ,54

PNS, PND and PGD are used routinely to detect embryos and fetuses that have or are at increased risk of having any one of a number of anomalies. Through abortion and embryo selection, the number of children born with these conditions is reduced significantly.55–58

Some argue that parents may have an obligation of procreative beneficence. They should avail themselves of technologies, including PGD, PNS, PND and abortion, that enable them to give birth to the best children possible and to prevent suffering by avoiding the birth of children who will suffer because of their condition.59 Depending on the nature of the information available from PND, PNS and PGD, parents should select against disorders and conditions and select for traits that may be associated with better lives. For example, we might choose children likely to be taller than those likely to be shorter, since taller people on average earn more.61 This use of PNS, PND and PGD is not currently standard.

20th century eugenics, PNS, PND and PGD—morally relevant similarities

A number of differences between the old eugenics and contemporary practices involving PNS, PND, abortion and PGD have been or could be offered to distinguish the morally problematic past from present efforts to decrease the number of births of children with certain characteristics. These differences are offered because they are considered morally relevant features. Examining these alleged differences reveals that contemporary practices share important features with the old eugenics. Insofar as these features contribute to what we find morally problematic about the 20th century eugenics movement in the USA and contemporary practices share them as well, they should lead us to reconsider contemporary practices. This is not to say that there are no differences but rather to highlight similarities we should not ignore in assessing present practices. They might point to concerns or inconsistencies we are unable to see easily.

First, the science behind the eugenics movement was wrong but PNS, PND and PGD rely on a solid understanding of genetics. Although today's science is far better, it is imperfect. Contemporary screening techniques can give high rates of false positives.19–22 ,60 The American College of Medical Genetics issued a statement in 2013 urging caution in the use of NIPS because of the limitations of the techniques.20 These limitations may not be well understood by patients or clinicians, and NIPS continue to be used widely.28 ,60 Confidence in our current knowledge might be misplaced. We do not know how imperfect contemporary science might be, but we should expect it is incomplete.

If we accept the claim that the past and present are different because of the state of scientific knowledge then and now, we should consider how the 20th century eugenics movement might generally be seen today if the science had been right. If the undesirable character traits they were trying to prevent were inherited as thought, would it have been permissible to try to prevent persons from being born with those characteristics, even if only through voluntary means? If the answer is yes, then we must remain open to the possibility that in the future it will be possible to use PNS, PND and PGD to detect a wider range of characteristics or predispositions, some of which will be thought to be socially undesirable. If that happens, use of those technologies to prevent people with undesirable characteristics from being born will be justified. If the answer is no, then the state of the science is not a relevant difference. Instead the concern might be with the list of undesirable characteristics that drove the eugenics movement.

Second, the eugenics movement was about ‘imbeciles’, the ‘feeble-minded’, criminals and the poor, and it reflected racist and classist biases and judgements. Today we focus on ‘real’ diseases, including fatal conditions and conditions that are ‘objectively bad’. Some use the term public health genetics to highlight the health rather than social orientation of contemporary practices.62 It is debateable whether everything for which PNS, PND and PGD are used routinely is ‘objectively bad’.44 ,52 ,63 For instance, given that many people born with Down syndrome live long, healthy and fulfilling lives, the justification cannot be that Down syndrome is objectively bad and abortion will free them from a life of suffering.64 ,65 Many decisions about what to screen and test for rest on discriminatory views about the disabled.46 ,48 ,66 The choice of conditions for which systematic screening or testing is recommended reflects a different set of biases and value judgements from the ones that informed the 20th century eugenics movement, but they are biases nonetheless. Many people defend PNS, PND and PGD to detect embryos and fetuses with medical conditions and abortion to terminate pregnancies when anomalies are found but reject using them to select for preferences such as sex or height, often out of concern for discrimination against females.67 ,68 Others disagree.35 ,69

To screen and test for some characteristics and not others, and to allow abortion of fetuses diagnosed with some characteristics and not others, is discriminatory.44 ,69 As Adrienne Asch observed: ‘If public health frowns on efforts to select for or against girls or boys and would oppose future efforts to select for or against those who would have a particular sexual orientation, but promotes people's efforts to avoid having children who would have disabilities, it is because medicine and public health view disability as extremely different from and worse than these other forms of human variation’.44What underlies the restrictions allowing for PNS, PND and abortion and PGD and embryo selection for some characteristics and not others is what Nathaniel Comfort has called the eugenic impulse, ‘the impulse to improve human health and happiness with genetics’.40

The history of concepts of health and disease is a long and complex one. What is deemed unhealthy or a disease or a medical condition changes over time and varies from place to place. Until 1973, homosexuality was classified as a disease that should be treated in the Diagnostic and Statistical Manual of Mental Disorders (DSM).70 Today many see homosexuality as a normal human variation. Imagine that PNS, PND, abortion and PGD had been widely available before 1973 and that it had been possible to screen for an increased risk of having a homosexual child. Would PNS, PND, abortion and PGD have been used to reduce the incidence of this outcome? Given all the efforts throughout history to ‘cure’ homosexuality and its presence in the DSM, at one time it might have been the kind of condition included in routine PNS, PND and PGD.71 Insofar as cost considerations are relevant, screening for various learning differences someday could be promoted to reduce the burden on schools of supporting certain students. What conditions may become part of routine testing or screening in the future remains to be seen. Of special concern here for some commentators is the periodic resurgence of efforts to understand behaviour in terms of genetics which, although repudiated, gain traction from time to time.10 ,72

The premise that governments and professional societies can distinguish reliably between health and disease and determine which conditions are so bad that society should seek to prevent such persons from being born is dubious. This is not to deny that there are conditions that would be universally or nearly universally recognised as serious, but the further claim that healthcare professionals and policy makers can determine the set of conditions that should be detected before birth to decrease the possibility of such lives being lived at all and that social resources should be dedicated to detecting and eliminating embryos and fetuses with these conditions goes beyond merely recognising them as serious.44

Third, the eugenics movement and contemporary practices employ different techniques to prevent poor birth outcomes. The eugenics movement violated the rights and interests of living people through sterilisation and marriage restrictions. Today PNS, PND and abortion, or PGD and embryo selection, promote the rights and interests of living people, enabling parents and prospective parents to make informed private decisions. It is hard to see how the difference in technology allows us to condemn the past and recognise the present as licit. The eugenics movement held that there are certain kinds of people who should not reproduce because there are certain kinds of people whose birth is a bad outcome. Today's practices reflect the view that there are certain kinds of people whose birth would be such a bad outcome that social resources are allocated to prevent it. PGD implies something similar. Whether the means to prevent bad birth outcomes involve sterilisation and marriage restrictions or PNS, PND and abortion, or PGD and embryo selection, the reasoning and goals are the same, namely to prevent bad births. If anything, the contemporary practices might be more problematic since prevention is secured through selective killing. Regardless of the techniques used, these practices aim to reduce the incidence of birth defects and save money.73 ,74

Both old and new practices go well beyond what we might call benign prevention aimed at avoiding sickness. An example of benign prevention is recommending that women consume sufficient folic acid before and during pregnancy to reduce the incidence of neural tube defects. Benign prevention reflects a view about the conditions under which, generally speaking, lives go better or are easier to live. People should do what they can to promote health in the future and avoid preventable conditions. The 20th century eugenics movement and contemporary practices go beyond this in seeking to prevent anyone from ‘slipping through’. It is not merely the case that some individuals might decide that they do not want to include children with certain conditions in their families. Rather, healthcare professionals and policy makers determine that some conditions (and not others) are bad enough that they always should be detected before birth so that bad birth outcomes can be avoided by preventing such children from being born. There are important differences between saying that society ought to support the systematic detection of fetuses with certain conditions to decrease the likelihood that they will be brought to term and recognising that lives go better when people do not have to face certain conditions.44 In choosing to deploy social resources and public policy systematically to prevent such births, the state and healthcare professionals identify a class of children whose birth would be so bad that it ought to be prevented. Physicians' failure to help parents prevent such births may be grounds for litigation.

Fourth, the eugenics movement involved the coercive force of the state coupled with the support of healthcare professionals and scientists. Today's practices are voluntary; they are based on individual choice and they promote informed decision making and personal autonomy.7 ,75–77 Although in the late-19th to mid-20th century in the USA numerous states had laws allowing for the forced sterilisation of people deemed unfit to reproduce, much of the eugenics movement. The eugenics movement did not always apply the coercive force of the state.11 ,14 They recommended other efforts, including making sterilisation and birth control education available and encouraging some marriages and discouraging others, to reduce the incidence of undesirable births and increase good birth outcomes. States employed public health workers to implement eugenics efforts, and physicians were instrumental to these efforts. If the role of coercion is an essential difference, we must wonder whether the non-coercive elements of the 20th century eugenics movement were acceptable.

Moreover, today the state and the perceived authority of physicians and scientists are used to promote and direct contemporary practices in several ways much like in the past.78 One of these is by providing or requiring coverage for certain types of PNS and PND and promoting messaging that encourages their use.18 ,31–32 ,60 Women are not merely told that they may use PNS but that it is part of basic pregnancy care. Failure to screen is a failure to obtain comprehensive prenatal care, something all ‘good mothers’ are expected to pursue. When detected, or even when there is an increased risk that certain conditions are present, women must be offered the opportunity to terminate their pregnancies or discard their embryos. Despite the expectation of non-directiveness, women may be encouraged to terminate pregnancies. The effect of this combination of state funding and professional ‘packaging’ of PNS, PND and abortion can be powerful. In Denmark, the rate of Down syndrome births has declined steadily since the government began covering PNS for all pregnant women. At the current rate of decline, Denmark might see no children born with the condition by 2030.67 The goal of governments paying for or requiring coverage for PND and PNS is, at least to some extent, saving money. This suggests that states are not neutral about the outcomes of such programmes but instead expect that the information will be used to terminate pregnancies.78 ,79

Another way state power can be used to promote PNS, PND and abortion is through the courts or fear of the courts. In the USA, the concept of ‘standard of care’ plays a role in malpractice litigation and in wrongful birth and wrongful life lawsuits. A physician who fails to provide the standard of care may be found negligent when a patient is harmed as a result of that failure. The American College of Obstetrics and Gynecology guidelines recommend that PNS and PND be offered to all pregnant women and that abortion be available.29 Although states vary in how practice guidelines can be used in lawsuits, patients who give birth to children with conditions that PNS or PND could have detected might sue a physician.81 Physicians will want to show that they offered all recommended screening and testing and gave patients the option to terminate. Because they fear litigation, physicians might come to see themselves as obligated to provide PNS and PND and offer abortion routinely. Without any legislation or regulation, the force of the state together with the authority of healthcare professionals perpetuates the routine use of PNS/PND and in some cases PGD for specific aims. In the future, additional pressure may be brought to bear on individuals and physicians to prevent the birth of children with conditions detectable through PNS and PND.78 The state's role is more subtle today, but it remains important.

Beyond the authority of the state, the mere ‘routinization of prenatal screening techniques’ may mean that little explanation is offered, women may not question the practice and they may believe that they have little choice about pursuing PNS.60 ,63 ,82–84 Even though counselling before PNS is recommended, it is not always sufficient.14 PND (chorionic villus sampling or amniocentesis) is somewhat different. Because of the risks it carries and the nature of the results, physicians may be more likely to disclose more information in an effort to secure informed consent.

Attempts to distinguish the ‘old eugenics’ from contemporary practices often emphasise the role of autonomy and parental choice in PNS, PND, abortion and PGD decisions.7 ,63 There is no systematic judgement about certain types of people and conditions; practices are characterised in terms of reproductive freedom rather than eugenics. Such a distinction is implausible given that the widespread and routine use of PNS, PND and PGD aims at identifying some characteristics and not others. Some uses may be prohibited. The decision to screen and test for Down syndrome but not for sex or some condition that physicians might not consider serious (eg, a predisposition to acne or dyslexia) reflects the value-laden judgements driving contemporary practice. Sometimes there is disagreement over what should be considered serious, such as a female fetus who is an unaffected carrier of haemophilia or adult onset disease.18 ,34 ,85 ,86 Many defenders of PND, PNS and PGD oppose the use of these interventions for sex selection except in the case of sex-linked conditions.7 ,35 ,67 ,87 If contemporary practices are aimed at promoting autonomy and fostering reproductive freedom, they should not be restricted to selecting against conditions physicians, insurers and governments have chosen. Individuals in authority to choose (parents and prospective parents) should decide what is important. To treat some characteristics differently from others undermines the professed importance of respecting and advancing reproductive freedom and reveals the discriminatory views that underlie social commitment to contemporary PNS, PND, abortion and PGD practices.3 ,44 What we have today is constrained reproductive freedom where the constraints are driven by the eugenic impulse and have a eugenic effect.

Fifth, some commentators have argued that comparisons between the eugenics movement and PGD are inappropriate because PGD is not sufficiently widespread and is too complex to be anything like mass sterilisations.75 PGD may become more widespread over time.88 Even today, for anyone using IVF, PGD imposes little or no additional burden.59 Nevertheless, PNS, PND and abortion are widespread in high-income countries, including the USA56 ,57 ,74 Insofar as a practice aimed at promoting the birth only of healthy children has to be widespread to be eugenic, then PNS/PND followed by abortion meet this requirement.


Distinctions between the 20th century eugenics movement and contemporary practices sometimes are offered to show that the present does not suffer from these morally problematic features of the past. These features are morally relevant, and it is because they are morally relevant that they are used to try to differentiate the past from the present. Rather than confirming the gap between the old and the new, examining five of these differences here points us to morally relevant similarities between the 20th century eugenics movement in the USA and contemporary uses of PNS, PND, abortion and PGD. We should take these similarities seriously. Some fear that the association between these will trigger laws prohibiting what they think are licit uses of PNS, PND, abortion and PGD.75 It is important to recognise the difference between individual decisions to use PNS, PND, PGD and abortion and the systematic deployment of social resources to ensure their routine use to advance social goals, including public health. Just as in the eugenics movement, today there is a strong reliance on public health language in discussions of PNS, PND and PGD. These practices are seen as cost-effective and good for society and are propagated through the collaboration of healthcare professionals and the state.14 ,44 ,53 ,75–76 ,89 As Arthur Caplan observed, the recommendation to provide all pregnant women with screening for neural tube defects in California was made with ‘the hope that some of those who are found to have children with neural tube defects will choose not to bring them to term….thereby preventing the state from having to bear the burden of their care’.90 PNS and PND have been made available largely through the use of tax dollars to conduct research.66 PNS and PND often are covered by public and private third-party payers.18 ,31 ,32 ,67 Both the old and new practices involve the use of public resources and the state, and they rely on the authority and cooperation of physicians and other health professionals to reduce the incidence of unhealthy births and promote good birth outcomes by systematically detecting embryos and fetuses with certain conditions before birth to prevent such individuals from being born.

Some commentators predict that additional technological and policy developments may advance eugenic objectives and outcomes further.78 In an era of ongoing conversations about the escalating costs of healthcare coupled with growing demand for public funding of healthcare in the USA, the perception that individuals with genetic conditions detectable before birth may be imposing preventable costs on society should come as no surprise. Social cost considerations played an important role in the eugenics movement in the USA during the 20th century and they may do so again.80



  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.

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