By Dixon, Darrin P
ABSTRACT: Many women are unprepared to make prenatal decisions about fetuses diagnosed with Down Syndrome because of societal pressures to have “normal” children, a negative view of persons with disabilities by many in society, a fear of legal liability by those in the medical community, the lack of genuine informed consent before undergoing genetic testing and abortion, and the failure of non-directive pre-abortion counseling in the medical community. Moreover, medical professionals fail to communicate correct and unbiased information before and during the genetic screening, diagnostic testing, and abortion decision-making process. This article addresses the contributing factors and causes that ultimately lead to a lack of informed consent and a very high abortion rate for fetuses diagnosed with Down Syndrome.
There are numerous contributing factors to what some may call a high termina- tion rate of fetuses that have tested positive for Down Syndrome. One major factor is the direct and indirect influences of medical professionals, which include genetic counselors, family physicians and obstetricians and gynecologists. In this article, I support the ethical principle of nondirective counseling and the genetic counselors who seek to achieve nondirectiveness. However, I suggest genetic counselors and many medical professionals have a deference to the use of medical technology and the belief that patients desire the maximum amount of information. This ingrained deference hinders most medical professionals from being neutral and often causes a subtle promotion of prenatal testing and abortion. Overall, increased prenatal testing contributes to the high abortion rate of fetuses diagnosed with Down Syndrome, a lack of genuine informed consent, greater intolerance of people and especially children with disabilities, and less money for research and development of effective treatments. To the extent that women are encouraged to terminate their pregnancies, prenatal testing and abortion of affected fetuses cannot be considered morally justified because the decision lacks genuine informed consent.
Similarly, other medical professionals, such as family physicians, obstetricians and gynecologists, contribute to the problem. Initially, almost all women seek prenatal treatment from a family physician or obstetrician and gynecologist. However, these medical professionals tend to spend significantly less time with patients compared to genetic counselors, which can result in miscommunications. Moreover, these professionals may encourage prenatal testing and the use of “up front” consent forms to reduce legal liability. In addition, these medical professionals typically receive inadequate genetic training, which can result in the misinformation, and most discouraging, undue influence, bias or prejudice against persons with disabilities, which circumvent informed consent. Time constraints, fear of liability, little genetic training and the practice of directiveness can easily result in a negative tone that manifests itself in phrase such as, “I’m sorry,” or “Unfortunately, I have some bad news to share” and conversations void of the positive reality that many individuals with Down Syndrome can become semi-independent and with good medical care can live into adulthood. Lastly, both medical professionals and patients and their families may overly rely on genetic technologies, which are far from perfect. The assumption that these technologies are 100% accurate can lead to many injudicious and erroneous choices depending upon the degree of inaccuracy. Yet, medical information is only part of what women and their families use to make their decisions. Their decisions are likely more substantially swayed by societal influences and pressures.
It is important to realize that genetic counselors and other healthcare professionals bring their own values into the prenatal testing process, with patients also adding different and competing values and background knowledge to the process. Furthermore, patients’ values reflect a combination of individual perspectives and social norms. While a great deal of variation exists among patients, some trends may be observed. Some women reject prenatal testing because they know they would not have an abortion for moral, religious or personal reasons. Others reject such testing because of the risk of miscarriage. But a vast majority of women at increased risk (those for whom it is medically indicated) of chromosomal or other detectable conditions under the old guidelines choose prenatal screening and/or testing.1 Several factors contribute to this trend. Just as medical professionals are not neutral about the value of information, neither is our society, which views the gathering of information as a sign of responsible behavior and good decisionmaking.2 In the context of prenatal testing, patients may believe that getting information about the fetus is not only the right thing to do, but a form of reassurance and a way to get a sense of control over the potentially overwhelming experience of reproduction.3 This trend contributes to the massive increase in prenatal testing and the need to know whether a child has a disability.
This article does not propose the elimination of prenatal testing. Rather, it proposes that the genetic testing and counseling should not be biased against the birth of children with disabilities. Genetic testing and counseling should not convey directly or indirectly the message that the lives of persons with disabilities are worth less than other lives, or that the only practical alternative is to prevent their existence through abortion.
Overall, prenatal testing should be a way for women and their families to reduce the stress and anxiety associated with the unexpected birth of babies with special needs and also a conduit through which women are given information to help them appreciate the value of children with special needs and expand their knowledge of available services and treatment options for such children. However, the practical result of prenatal testing tends to be an increased termination rate of fetuses diagnosed with Down Syndrome or other genetic anomalies.
Is Abortion the Solution to Down Syndrome?
On May 9, 2007, Amy Harmon of the New York Times wrote an article titled, “Prenatal Testing Puts Down Syndrome in Hard Focus.”4 In this article she stated that 90% of women who receive a positive diagnosis of Down Syndrome choose to have an abortion. The New York Times received thousands of emails and letters by readers, such as George E Will, who found the 90% percent statistic to be morally problematic, probably untrue, and a sign of medical procedural failure. This article will discuss the human, societal, and medical aspects of prenatal genetic testing of Down Syndrome fetuses that contribute to a high abortion rate.
Before examining the various contributing factors, it should be noted that the statistic that “90% of women who receive a positive fetal diagnosis of Down Syndrome choose to have an abortion”5 may be too high. That number may be overestimated and the source should be questioned for several reasons. First, although no official data exists, medical professionals report that often women abort when they discover there is mental retardation or a serious anatomical birth defect, sometimes incompatible with life.6 But some argue that the women who choose to have prenatal testing are the women most likely to be considering abortion, so the population having prenatal testing is more likely to be predisposed to have an abortion.7 Second, some doctors do not refer patients for genetic counseling or prenatal testing if they say they would not consider abortion.8 Third, all the numbers are suspect because there is no birth certificate when a baby is aborted and a lot of states do not track abortions (e.g., Pennsylvania) which results in a lack of good epidemiology9 Fourth, many cities like Pittsburgh have Down Syndrome clinics that are instrumental in helping children develop and become a part of the community. 10 Fifth, after extensive research, it appears the abortion rate varies significantly by region.11
Professor Elizabeth Gettig,12 MS, CGC, stated that during the 1980’s she practiced genetic counseling in North Carolina and after a positive Down Syndrome diagnosis, almost 100% of the women aborted because of a lack of economic resources.13 In contrast, in Pittsburgh she found that about half of the women with a positive diagnosis for Down Syndrome continue the pregnancy and about half abort.14 She gives several reasons for this disparity. First, the Pittsburgh region has a higher percentage of Catholics. Second, there are more services than most cities in Pittsburgh to assist children who have disabilities.15 Lastly, the new federal law protects all children with disabilities so that from ages 0-3 parents of children with disabilities receive free services for the disabled child and all children at age three receive an Individual Educational Plan so that they can start developmental daycare and other services before going to school.16 Furthermore, because the services are better, the child has a better chance of living independently and becoming an integral part of the community. Other genetic counselors, journalists and medical professionals find different statistics. Elizabeth A. Balkite,17 stated that in her own experience she believes the termination rate for Down Syndrome pregnancies to be roughly 60%.18 She thinks that the other 40% keep the baby or place the baby up for adoption.19 Ellen Wright Clayton, M. D., J. D., believes the number is closer to 50 percent.20 In the January 29, 2007 Newsweek article titled “Golly, What Did Jon Do?” George F. Will stated, “At least 85 percent of pregnancies in which Down Syndrome is diagnosed are ended by abortions.”21
The 90% New York Times statistic is suspect because it was based on the results of one research study rather than different regional averages.22 Furthermore, nationwide abortion numbers do not exist. In sum, although Professor Gettig experienced a 100% termination rate in the 1980’s in North Carolina and the New York Times reported 90%, these numbers may to be overestimated because of the increased financial channels and educational groups and programs available to assist parents with their Down Syndrome children.
The Medical Background
The genetic counselors I interviewed agreed that the most common reason for aborting a fetus with Down Syndrome is the financial, emotional, physical and time constraints that accompany raising a child with Down Syndrome.23 Additionally, there is immense societal pressure to produce children that are “normal” (meaning children that are disease and mental retardation free). The most direct consequence of widespread prenatal genetic testing, maternal serum fetal cell sorting24 (“MSFCS”) or maternal plasma DNA recovery25 (“MPFDR”), is a decrease in the number of babies born with genetic diseases and chromosomal abnormalities.26 Prenatal testing for many is a desired way to avoid children with genetic disease. The burdens to the child, family, and society are great enough to make a parental choice against children with this trait rational, understandable, and to some, even desirable. The above makes the Down Syndrome abortion issue a commonplace medical problem.
What is Down Syndrome?
Down Syndrome27 is the most common chromosomal problem in live born babies.28 It is a congenital condition resulting from a chromosomal defect that causes varying degrees of mental retardation and some physical abnormalities.29 The word “syndrome” means that many different characteristics are usually seen together. For example, in Down Syndrome, these features include low muscle tone, small stature, a single crease across the center of the palms, small amounts of extra skin at the corner of one’s eyes, bright “speckles” in the iris called Brushfield spots, flat nasal bridge, small mouth, small ears, excessive skin at the nape of the neck, a deep fissure between the first and second toes, flatness of the back of the head and an upward slant to the eyes.30 Although the above features are common in Down Syndrome, they are not all found in every child with Down Syndrome.31 Besides the above listed physical features, a child with Down Syndrome will resemble other family members.32
The most commonly known feature of Down Syndrome is mental retardation. Mental retardation simply means that the child will have “below normal mental functioning.”33 The degree of mental impairment is unpredictable, ranging from mild (IQ: 50-70) to moderate (IQ: 35-50), and only occasionally severe (IQ: 20-35). 34 There is an increased risk of “congenital heart defects35 (50%); leukemia36 (
In roughly 95% of children with Down Syndrome, the condition is due to a nonfamilial disorder caused by the presence of three 21st chromosomes rather than the usual pair.47 In approximately 3% to 4% of persons with the Down Syndrome phenotype, “the extra chromosomal material is the result of an unbalanced translocation between chromosome 21 and another acrocentric chromosome, usually chromosome 14.”48 Almost three-fourths of these unbalanced translocations are de novo,49 and approximately one-fourth are the result of familial translocations.50 In the remaining 1% to 2% of persons with the Down Syndrome phenotype, two cell lines are present: one normal and one trisomy 21.51 This condition is called mosaicism. People with mosaicism, on average, may be phenotypically less severely affected than persons with trisomy 21 or translocated chromosome 21, but their conditions are generally indistinguishable in all other aspects.52 Mosaic Down Syndrome usually occurs after conception, due to a mistake early in the formation of the baby’s cells.53 Because only some of the cells are involved, children with mosaic Down Syndrome may have fewer health and learning problems.54
The actual risk of Down Syndrome in a woman who is thirty-five is one in 385; the risk of her having a fetus with other anomalies is one in 434, making her total risk of chromosomal anomaly one in 204.55 The likelihood of having a child with a chromosomal anomaly is minor. However, one could argue the low risk of anomaly creates an incentive for women to abort their fetus with Down Syndrome and try again to have a child without a chromosomal anomaly because the chances of having another fetus with Down Syndrome are low. At the same time, others contend that even a small possibility of harming one’s fetus during a prenatal test is too great. Because the symptoms of Down Syndrome are treatable and the child can live without major disability, some couples refuse prenatal screening or abortion to prevent such births.56 However, because there are no guarantees in advance about the severity of a particular case, and because even the best situations will require substantial supportive efforts by parents, many couples are unwilling to bring such a child into the world.57
What is Prenatal Testing and Diagnosis?
Prenatal testing and diagnosis refers to “all the technologies currently in use or under development to determine the physi(ologi)cal condition of a fetus before birth.”58 There are two major types of prenatal diagnosis: amniocentesis and chorionic villus sampling (CVS).59 Amniocentesis is usually performed between 16 and 20 weeks of pregnancy60 This test involves inserting a needle through the abdomen into the uterus to draw off a sample of amniotic fluid.61 This fluid contains skin cells from the baby which can be used to do a chromosome test.62 The chance of miscarriage is between 0.5 percent and 1%. CVS is typically performed between 10 to 12 weeks of pregnancy63 It involves inserting a thin, plastic catheter through the vaginal canal to withdraw some placental tissue, which usually has the same chromosome makeup as the baby64 One version of this test, called transabdominal CVS, uses a needle, inserted through the abdomen, to collect the tissue sample.65 A sonogram is done before or during each test to guide the catheter or needle. Also, there are different testing methods such as “ultrasound and the maternal serum alphafetoprotein3 blood test (MSAFP3) for neural tube defects and Down Syndrome.”66 CVS has the disadvantage of being an invasive procedure, and it has a small but significant rate of morbidity for the fetus; the mortality rate is about 0.5 to 1% higher than for women undergoing amniocentesis and is 0.5%-1% over the general population risk.67
There are two dominate themes regarding prenatal diagnosis: (1) the public health model and (2) the reproductive autonomy model.68 In the “public health” model, prenatal diagnosis is viewed as a way to reduce the frequency of selected birth defects.69 Thus, under the public health model, prenatal diagnosis is a contributing factor to the high termination rate of fetus’s diagnosed with Down Syndrome. In the “reproductive autonomy” model, prenatal diagnosis is viewed as a conduit through which women are given information to expand their reproductive choices.70 Thus, under the reproductive autonomy model, prenatal diagnosis is a method to increase prenatal choice. Both approaches are active in our society and both approaches fail to recognize a major function of prenatal diagnosis. For many women, prenatal diagnosis is a way of avoiding “disaster.” Through the use of prenatal diagnosis women can avoid the family distress and suffering associated with the unpredicted birth of babies with genetic disorders.71
The Disability Rights Perspective
The premise of the disability rights movement is that persons with disabilities are disadvantaged far more by negative social attitudes than by their disabilities.72 Disability rights advocates contend that tests like amniocentesis often are performed because a value judgment has been made that there is merit in identifying a fetus who could become a person with a disability. The premise of the expressivist73 argument is that prenatal testing is morally problematic because it expresses negative or discriminatory attitudes about both impairments and those who carry them.74 Its central claim is that prenatal tests that expose disabling traits express a hurtful attitude about and send a hurtful message to people who live with those same traits.75 In the late 1980s, Adrienne Asch, a bioethicist at Wellesley College, put the concern this way: “Do not disparage the lives of existing and future disabled people by trying to screen for and prevent the birth of babies with their characteristics.”76 Persons or families with disabled children have claimed that a policy that encourages abortion of fetuses with genetic anomalies is a public statement that the lives of people with disabilities are worth less than those of the able-bodied.77 In addition, such a policy reduces the number of persons with those disabilities, thus reducing their political effectiveness. It also may manipulate couples into carrier and prenatal screening to avoid children with such characteristics.78 In short, it engenders or reinforces public perceptions that people with disabilities should not exist, making intolerance and discrimination toward them more likely.79
The message sent, from this perspective, is that a child with the condition would be unacceptable to the prospective parents. This devaluation appears more subtly in the promotion of prenatal genetic testing as helping prospective parents to guarantee that they will have “healthy” children.80 This rhetoric of good health fails to acknowledge that some traits screened for do not necessarily affect a child’s health, although they may impair the child’s abilities.81 A perfectly physically healthy child with Down Syndrome or with deafness is a prime example. Viewed in this light, the appeal to good health, while unobjectionable on its face, may promote eugenic attitudes that individuals with some disabilities are properly excludable, not only from society, but also from existence.82
This is a powerful charge, and at the very least should remind us to look more closely at the effects of genetic selection programs on persons with disabilities, and to change the programs if they are in any way harmful, denigratory or disrespectful to people with disabilities. However, the charge is not irrefutable. Surely one can find a particular living situation less preferable than others yet still respect persons in that situation. A policy to prevent accidents that cause paraplegia does not harm existing paraplegics, nor prevent us from supporting programs that make their lives easier. Similarly, a program that enables people to avoid the birth of children with disabilities does not have to denigrate existing persons with those conditions. However, this is not the current state of prenatal genetic testing in this country with regards to Down Syndrome.
While genetic counselors around the world offer prenatal testing as an opportunity to maximize a couple’s reproductive choices, disability scholars have recently condemned prenatal testing as typically done with the goal of identifying an affected fetus so that the fetus may be aborted.83 This message has important, indeed critical, significance for the profession of genetic counseling and should not be overlooked. The disability rights84 perspective has two central claims: first, prenatal testing is morally problematic; and second, prenatal genetic counseling is driven by misinformation.85 However, advocates of prenatal testing argue the widespread use of prenatal testing enables parents to prepare emotionally and financially for the special needs of a child with Downs Syndrome.86
Another concern is that prenatal genetic testing encourages reductivism.87 Here, the concern is that using prenatal testing for trait selection (or deselection) purposes will encourage the identification of a specific child with his selected trait(s) or, more generally, the identification of all persons with their selectable traits.88 The identification of individuals primarily with a single, physical trait rather than with their personhood is precisely opposed to disability rights advocates’ efforts to promote “people first” language in describing persons with disabilities.89 The possibility of reductivism appears particularly troublesome for two reasons. First, it threatens the loss of an intangible aspect of how we view our fellow humans.90 Our very respect for the dignity of the individual seems premised on our understanding that each individual is greater than the sum of his or her parts.91 If, by contrast, we were to view our children or the persons with whom we interact in society as simply a combination of traits, then persons with similar traits would begin to appear largely interchangeable, and we would lose an important sense of the humanity and individuality of persons.92
Second, reducing our understanding of individuals to the sum of their traits also threatens to create new, and exacerbate existing, bases for social division.93 Many of the seemingly intractable social divisions of our day are traceable, at least in part, to social groups focusing on one “part” of individuals (for example, their race, ethnicity, religion, or sexual orientation), rather than on their humanity94 It is easy to hate and chastise a label; it is more difficult to hate an individual when one views that individual as being a bundle of humanity – with joys, fears, dreams, concerns, vulnerabilities, and strengths.95 By encouraging us to conceptually break down persons into traits, prenatal genetic testing threatens to reinforce our existing and destructive reductivist tendencies.96
Many of the problems we have regarding the normalcy of children center around the fact that we, in the United States, live in a celebrity oriented and visually oriented culture.97 As long as the status quo remains, the abortion rate will always be high. A common exercise in genetic counseling classes involves asking students whether or not they would choose the traits of their child if they had the option. Furthermore, if they did have the option, would they choose for their child to be taller or shorter, lower or higher body fat, attractive or unattractive features, athletically gifted or intellectually talented, or neither and so on.98 Almost always students say they would choose their child’s traits and that they would choose the more socially advantageous traits.99 This shows the students value physical appearance, intellectual ability and cosmetic attributes. The root of the problem is that we as a society value some things more than others. More likely than not, children with Down Syndrome do not tend to be thought of as having the above attributes that appear to be desired by parents and the vast majority of society100 This problem will not be solved until we as a society accept people who are differently abled and demonstrate that acceptance in our choices and values.
The Negative Perceptions of Persons with Disabilities
It is estimated that 19.7 percent of people in the United States have characteristics that are considered disabilities.101 With such a large percentage of people with disabilities in the United States, one might think discrimination against persons with disabilities would be non-existent. Unfortunately, this is not the case.
In passing the Americans with Disabilities Act in 1990 (ADA), Congress recognized that millions of the nation’s population continued to be treated differently and pejoratively by the non- disabled majority: “Individuals with disabilities are a discrete and insular minority who have been subjected to a history of purposeful unequal treatment, and relegated to a position of political powerlessness in our society resulting from assumptions not truly indicative of the ability of such individuals to participate in, and contribute to, society”102
The disadvantages associated with impairments have their source in pervasive attitudes of contempt and disrespect.103 Like people of color, people with disabilities are not regarded as equals by the larger society, and the disadvantages they face reflect their devaluation.104 Professor Ron Amundson explains the devaluation as follows: “Rehabilitation literature is full of examples of how able bodied people think of disabled people not as having specific disabilities, but as being generally incompetent. This social image reinforces the illusion that global disadvantages and handicaps flow from nature itself.”105 In turn, the prejudice against people with Down Syndrome because of their social incapacitation provides an excuse to reject the demands of persons with Down Syndrome for the kinds of environmental modifications that would increase their access to resources and would further their goals.106 Like the myths that burden women and ethnic minorities, the myths about persons with Down Syndrome are self-supporting.
Attitudes toward congenital disability have not changed markedly. Both premodern as well as contemporary societies have regarded disabilities as undesirable and to be avoided. Not only have parents recognized the birth of a disabled child as a potentially divisive, destructive force in the family unit, but the larger society has seen disabilities as being unfortunate. Polls reveal that most Americans support abortion where a fetus has a severe genetic abnormality107 Our society still does not tolerate the elimination of diseased/disabled people, but it does urge the termination of diseased/disabled fetuses.108 The urging is not explicit, but implicit. The dominant culture appears to be moving in two contradictory directions: more accommodating of disabilities in adults, but less tolerant of imperfections in children.109
The disability rights critique of prenatal testing has been formulated as follows:
(1) Continuing, persistent, and pervasive discrimination constitutes the major problem of having a disability for people themselves and for their families and communities. Rather than improving the medical or social situation of today’s or tomorrow’s disabled citizens, prenatal diagnosis reinforces the medical model that disability itself, not societal discrimination against people with disabilities, is the problem to be solved. (2) In rejecting an otherwise desired child because they believe that the child’s disability will diminish their parental experience, parents suggest that they are unwilling to accept any significant departure from the parental dreams that a child’s characteristics might occasion.
(3) When prospective parents select against a fetus because of predicted disability, they are making an unfortunate, often misinformed decision that a disabled child will not fulfill what most people seek in child rearing, namely, “to give ourselves to a new being who starts out with the best we can give, and who will enrich us, gladden others, contribute to the world, and make us proud.”110
Furthermore, disability rights advocates argue that prenatal testing is being justified by mistaken assumptions about the quality of life of people with disabilities, and is demeaning to existing people with disabilities. Disability rights advocates argue that these assumptions are mistaken for several reasons:
(1) They fail to recognize the extent to which the disadvantages associated with impairments result from discriminatory attitudes and practices rather than anything intrinsic to the impairment.
(2) They place unwarranted emphasis on the size of one’s opportunity range rather than the possibility for meaningful choice and rewarding outcomes within that range.
(3) They confuse the claim that having a capacity, skill, or experience is good, with the claim that lacking a capacity, skill, or experience is inevitably bad. This confusion is due in part to the failure to distinguish the absence from the loss of a skill, capacity, or type of experience, and in part from the overly-narrow description of what is good or valuable.111
The above three points contribute to a negative view of persons with disabilities held by society. Down Syndrome is one of the most readily apparent types of disabilities because the physical characteristics are recognized by most members of society. However, one of the largest contributors to this negative view of Down Syndrome is the prevalence of prenatal genetic testing. A large number of abortions are performed for medical reasons. However, obstetricians say several factors are most likely contributing to a growth in the frequency of terminations occurring after prenatal genetic testing, including broader availability of new screening technologies and more pregnancies among women over 35, who are at greater risk of carrying a fetus with chromosomal abnormalities.112 Moreover, as genetic testing becomes more prevalent, and the public becomes more aware that testing is both available and reasonably accurate, society may reject or otherwise discriminate against children who are born with disabilities and the women who chose to have them.113
Disability rights advocates argue that the medical establishment is sending a message to patients that the goal is to guard against the birth of children with disabilities.114 Professor Adrienne Asch has said, “By putting them out there as something everyone must do, the profession communicates that these are conditions that everyone must avoid.”115 Furthermore, Asch has stated, “[T]he earlier you can get it done the more you can get away with because you never have to tell anybody”116 Terminating a pregnancy based on non-life threatening defects is causing some doctors to become troubled by what they consider to be a slippery slope from prenatal science to eugenics.117
The moral quandary we find ourselves in challenges the ideal of unconditional love of a child against the reality that most of us would prefer not to have that unconditional-love relationship with a certain subset of children. Adrienne Asch says, “I think the reason that this topic is as loaded and painful as it is, is that prospective parents want to think that they are open to loving whomever comes into their families, and they don’t want to think that they aren’t.”118 What is even more problematic is that people with Down Syndrome are described as having “warm, loving personalities and enjoy[ing] art and music.”119 Some parents claim Down Syndrome children are easier to raise than their unaffected children.120 Because children with Down Syndrome are apparently happy preventing their birth can hardly be justified as a means of preventing suffering and this makes it more difficult for prospective parents to rationalize the abortion of a child with Down Syndrome.121
Many women abort a fetus with Down Syndrome despite their views on abortion.122 This raises an interesting and yet critical point. Woman may distinguish the political question of abortion in law and public policy from abortion as a personal moral choice.123 The political question of abortion is when, if ever, it is permissible to destroy human pre-born life.124 The personal moral choice of abortion may turn on an infinite number of other questions such as: (1) Do I have the financial resources to support a child with special needs; (2) Where will this child go to school? (3) Will my family accept this child; and (4) How will this child affect my life?125 Some argue that a desire not to have a child with special needs is based on prejudice.126 Others claim that a choosy attitude toward fetuses brings a consumerist attitude to childbearing and undermines the moral stature of the family. Still others maintain that the act of aborting children with special needs drags us into a moral abyss, but raising children with special needs enhances our humanity127 The arguments result in two opposing views: (1) Prenatal testing is morally questionable because it leads people to reject fetal life because of a single trait, their disability, and (2) A “healthy” newborn is the best outcome for any parent and no reasonable person would choose disability over normalcy if they have the ability to choose based on prenatal testing. Aborting fetal life because of its below average intellectual or physical ability may be morally acceptable to some people, but aborting a fetal life for non- disabling conditions, e.g., gender, may be morally unacceptable to those same people.128 The difference is hard to discern from a moral standpoint. If someone believes that abortion is not justified for gender selection or other genetically determined traits within the “normal” range, why should it be justified for other genetically determined traits, such as Down Syndrome or dwarfism, just because such conditions are statistically less common and deemed “abnormal.”129
Disability rights advocates are right to think of genetic counseling as a search and destroy mission because testing will likely ultimately lead to greater intolerance of disabilities and less money for research or treatment. Some doctors do not want to perform abortions when fetuses have relatively minor defects.130 At the same time, genetic counselors are right to pursue what is a necessary job, counseling and helping families make the best decision for themselves.131
What adds to the problem is the fast growth of the medical genetics field. As a result of this fast growth, the evolution of enforceable legal regulations and the formulation of widely understood and accepted ethical policies have lagged behind rapid developments in technology132 The result is a medical genetics field that is loosely regulated.
While individuals may not have the necessary resources to adequately care for people with special needs, society does. Because society has greater resources to provide for children with special needs, it does not have the rationale that some pregnant women may have for genetic testing and abortion of fetuses whose subsequent care may be impossible for them to provide.133 But there are those in society that want to reduce the cost of care by eliminating or at least reducing the numbers of people with disabilities by encouraging genetic testing and the abortion of fetuses that test positive for Down Syndrome.134 That this rationale has been effective seems clear from the fact that most women who are told that their fetus has this anomaly choose to abort it more quickly than when they are given other fetal diagnoses, some of which have more devastating medical consequences.135 The desire for a “normal” or “better” child contributes to the stigma that people with Down Syndrome live with. Many factors contribute to the social attitude of society and its overall negative impact on persons with disabilities. One thing is clear, this negative view of Down Syndrome will not change until we begin to accept those who are differently abled.
Contrasting the Roles of Physicians and Genetic Counselors
The medical community also contributes to the high abortion rate for fetal life with Down Syndrome. It is important to understand the different roles of doctors and genetic counselors in the prenatal process. Typically a woman makes an appointment to see her doctor as soon as she has a positive pregnancy test result, which could be a week after conception or several months. After the first two months of pregnancy, many of the tests discussed in this article would be inaccurate and, thus, would not be offered.136
There are several types of medical providers. First, and most well known, are obstetrician-gynecologists, also known as OBGYN’s. OB is short for obstetrician, a doctor who specializes in pregnancy, delivering babies, and gynecology.137 They may have low or high risk patients. These doctors usually work in the hospital setting, although many are opening birthing centers, and a few do home deliveries. GYN is short for gynecologist, a physician who specializes in treating diseases of the female reproductive organs.138 Second, family practitioners may specialize in family care, including pregnancy and delivery139 They usually consult with an obstetrician on surgical cases. They practice in hospitals, birthing centers, and home delivery settings.140 Third, nurse midwives are nurses with training in low risk pregnancy and delivery (about 90% of births fall into this category).141 They practice in conjunction with physicians. They may practice in home, hospital or birthing center settings.142 Fourth, perinatologists are doctors who specialize in managing high risk pregnancies.143 About ten percent of pregnancies fall in this category.144 These physicians practice in hospital settings, usually in conjunction with a Level III nursery. And fifth, non-nurse midwives who have special training in midwifery only, limit their practice to women with low risk pregnancies and deliveries.145 Midwives may consult with physicians, and they usually practice in home delivery settings or birthing centers.146 Doctors typically make the offer for genetic testing in both the first and second trimester, which may be dictated by the desire to avoid legal liability that may result from the unexpected birth of a child with disabilities.147 Patients see genetic counselors because they are referred by their physician or are self referred.148 Most people who provide genetic counseling are not genetic counselors but obstetricians, because there are few genetic counselors in many places, especially rural areas. Fewer referrals occur because of this and as a result, obstetricians and primary care physicians provide genetic counseling to their patients.149 However, this is a problem because these professionals are not as well equipped to deal with substantive genetic counseling issues.150 In urban areas, there are typically more referrals because urban areas have greater medical resources and there is typically more insurance coverage because of the increased referrals.151 Furthermore, many women only see a genetic counselor if they have an abnormal test result.152 Some doctors refer all pregnant patients prior to any testing for counseling, education sessions, test coordination, and explanation of results.153 However, it is standard for a doctor to refer a woman to a genetic counselor after the test results have been reported for clarification of what the test results mean.154 Physicians typically do not have the time to explain the risks and benefits, what the detection rates are, and the procedures.155 Most obstetrician-gynecologists spend about eight minutes with their patients per session.156 Most genetic counselors spend about forty minutes with their patients per session.157
Doctors do not receive as much training in genetics as genetic counselors. The amount of genetics taught in a typical medical school is only one week or one course.158 Moreover, genetics is not taught in every medical school.159 The likely result is many doctors are ill equipped to discuss genetic issues.160 Medical schools should offer more genetic counseling instruction since many doctors will recommend genetic testing as a common part of their medical practice. It is very typical for the initial genetic screening to be performed in the doctor’s office, the results being given to the patient in the same office, as well as the patient referral to a genetic counselor, all without any detailed explanation by the doctor.161 As a result, women tend to come into a genetic counselor’s office ill equipped and uninformed.162 Moreover, some women may never see a genetic counselor because of financial constraints.163 Insurance companies often reimburse for diagnostic tests at far higher levels than for pretest counseling-if they reimburse for counseling at all.164 As a result, fiscal concerns might lead practitioners to push for testing rather than genetic counselor referrals.
An important function of genetic counseling is to assist parents who have a fetus with a genetic anomaly to deal with the implications of the diagnosis for the child, the family, and additional children that may be conceived in the future.165 Genetic counselors seek to be culturally sensitive, personally sensitive and to let people make their own decisions by being non-directive.166 They try to tell everyone similar information and let them make their own choice. Other health professionals have less training in nondirectiveness than genetic counselors, and are therefore more likely to be directive and to incorporate their own values and judgments in the counseling process.167 In general, physicians with training in genetic counseling are more directive in their counseling style than genetic counselors.168 Physicians without such training are even more so.169 As a result, many patients choose prenatal testing in part because their physician has recommended or even encouraged it. Non-genetic health professionals tend to make such recommendations partly because “the idea that one would not want information is so counter to the medical profession’s world view”170 While genetic counselors tend to accept a broad range of reasons for rejecting prenatal testing, physicians are more inclined to encourage testing, unless the patient has a history of infertility or miscarriage.171 One major reason genetic counseling should be offered in medical schools is to inform physicians about the non-directive goals of genetic counseling and educate them on the wide range of functioning that people with genetic anomalies experience.172
The choices health professionals offer are typically: (1) an initial genetic screening; (2) additional diagnostic testing; (3) and support if they chose to abort or to continue the pregnancy.173 But what is frequently missing from this process is the delivery of comprehensive information on genetic anomalies, resulting range of possible disability, and the support services available in the community.174
In prenatal genetic testing counseling, the genetic counselor typically begins by explaining that all pregnancies have a three to five percent population risk of birth defects, regardless of family history.175 The counselor then describes the patient’s particular pregnancy risk.176 Next, the counselor describes the information that tests can provide, their limitations-not all conditions can be identified-and the health risks to the patient.177 Finally, during the screening and counseling process, the genetic counselor works closely with the physicians on a health care team.178 Contact with community support services or similarly situated women or families is not required.179 Of course, some patients may independently obtain information about community services for Down Syndrome children from national or local Down Syndrome organizations, or from the Internet.180
The American Academy of Pediatrics recommends that the medical professional discuss the following topics with the family:
1. The prenatal laboratory or fetal imaging studies leading to the diagnosis.
2. The mechanism for occurrence of the disorder in the fetus and the potential recurrence rate for the family
3. The prognosis and manifestations, including the wide range of variability seen in infants and children with Down Syndrome.
4. When applicable, additional studies that may refine the estimation of the prognosis (eg, fetal echocardiogram, ultrasound examination for gastrointestinal malformations).
5. Currently available treatments and interventions. This discussion needs to include the efficacy, potential complications and adverse effects, costs, and other burdens associated with these treatments. Discuss early intervention resources, parent support programs, and any plausible future treatments.
6. The options available to the family for management and rearing of the child using a nondirective approach. In cases of early prenatal diagnosis, this may include discussion of pregnancy continuation or termination, rearing the child at home, foster care placement, and adoption.181
If the pregnancy is continued, a plan for delivery and neonatal care must be developed with the obstetrician and the family. Also, a referral to a clinical geneticist should be considered, if it has not already been considered, for a more extended discussion of clinical outcomes and variability, recurrence rates, future reproductive options, and evaluation of the risks for other family members.182
Prenatal genetic screening is being largely left to the discretion of the medical profession and is being performed for the benefit of prospective parents, not their fetuses.183 Prenatal genetic screening is about “offering prospective parents difficult choices regarding the sacrifices they are willing to make to be parents, what mental and physical characteristics their children will have, and what kind of lives they want their children to have at a time when abortion is still an option.”184 The assumption underlying voluntary genetic screening is that prospective parents will be given information and be allowed to act on that information.185 The choices created through prenatal genetic screening (whether to undergo genetic testing, which tests to run, the option to end a pregnancy based upon a broader spectrum of test results) will expand along with prenatal testing capability186 Today, the two options given to prospective parents who receive genetic screening results indicating a genetic abnormality are: delivering a child with a known impairment or propensity for being unhealthy, and aborting the child.187 The care provided by OBGYN’s, family practitioners and genetic counselors will contribute to the choice women make.
The Role of Genetic Counselors
Even though genetic counselors are not the first persons women see in the prenatal process, they play a major role because they are frequently the most knowledgeable source of medical information on genetic anomalies for pregnant women and their families.188 The genetic counselors I interviewed all agreed that the women and their families who come for genetic counseling typically understand little about what a genetic counselor does, the training they receive, their professional standards of conduct, medical guidelines for prenatal diagnosis, and ultimately their function as a whole.189 This section will provide information about genetic counselors, the people who need and use their services, their professional guidelines and standards of conduct, clinical approaches, and the process of genetic counseling. This section will discuss the new prenatal guidelines genetic counselors follow and whether those new guidelines are necessary. The National Society of Genetic Counselors (NSGC) says that genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.190 NSGC asserts that the genetic counseling process involves an attempt by one or more appropriately trained persons to help the individual or family to:
(1) comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management; (2) appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives; (3) understand the alternatives for dealing with the risk of occurrence; (4) choose the course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards, to act in accordance with that decision; and (5) to make the best possible adjustment to the disorder in an affected family member and/ or the risk of recurrence of that disorder.191
Genetic counselors are health professionals with graduate degrees in the areas of medical genetics and counseling.192 They work as members of a health care team, providing information and support to families who have family members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions.193 They provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services.194 Furthermore, they “identify families at risk, investigate the [genetic anomaly] present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review available options with the family”195 Most enter the field from an array of disciplines that includes biology, genetics, nursing, psychology, public health and social work196 They serve as educators and resource people for other health care professionals and for the general public.197 Some counselors also work in administrative capacities. Many engage in research activities related to the field of medical genetics and genetic counseling.198
Professor Gettig believes that patients who might have a child with Down Syndrome typically see genetic counselors at two primary points: (1) prenatal testing to determine whether or not the baby has Down Syndrome or (2) after delivery, to diagnosis a child with Down Syndrome and provide information on the available educational and health programs needed for children with Down Syndrome.199
Similarly, Professor Carolyn Lee Brown argues genetic counseling actually consists of three stages: the patient-counselee must directly approach or be referred to the genetic counselor; the genetic counselor must obtain all necessary information to allow for a proper diagnosis; and, ultimately, the genetic counselor must communicate his diagnosis to the patient-counselee.200
Genetic counseling is typically advised for: (1) Pregnant women who will be 35 years old or older at delivery time (however the guidelines have changed, see infra Genetic Counseling Guidelines and Professional Standards of Conduct); (2) Individuals who are known to be at risk for carrying genetic disorders; (3) Parents of a child with a genetic disorder, birth defect or mental retardation; (4) Individuals who have had a laboratory test indicating an increased risk for a genetic disorder; (5) Individuals diagnosed with a birth defect or mental retardation, or who have a family history of a genetic disorder; (6) Individuals of ethnic groups in which particular inherited diseases are more common; (7) Individuals or couples who have had multiple miscarriages or pregnancy losses; and (8) Women exposed to certain medications or drugs, significant radiation, and/or particular infections during pregnancy.201
Genetic Counseling Guidelines and Professional Standards of Conduct
A genetic counselor must earn a masters degree from a genetic counseling/ human genetics program accredited by the American Board of Genetic Counseling.202 Most genetic counselors are board- certified.203 Most counselors enter a genetics program with an undergraduate degree in science, psychology, or genetic counseling.204 Each program has slightly different prerequisites and course requirements. However, they are all based on developing specific competencies in genetic counseling.205 Similarly, numerous nurse-counselors and social workers do genetic counseling. In the past, counselors without master’s degrees were eligible for board certification, but since the mid-1980s, a master’s degree in genetic counseling is required.206
There are two medical organizations that govern genetic counselors: the American Board of Genetic Counseling (ABGC) and the National Society of Genetic Counselors (NSGC). The ABGC certifies genetic counselors and accredits genetic counseling training programs.207 Graduates of these programs must also pass a certifying examination administered by the Board.208 Genetic counselors that have passed their certifying examination practice in a variety of settings, including hospitals, private offices, laboratories, federal and state government offices, universities, and research facilities.209
The NSGC is the professional membership association for the genetic counseling profession.210 Because they offer educational programs, it would be considered a conflict of interest for them to administer the Board exams.211 In 1991, the NSGC adopted a professional code of ethics entitled “Genetic Counselors and their Clients,” which discusses the need to respect clients’ backgrounds and cultural beliefs.212 If someone violates the NSGC code of ethics or any published practice guidelines, they may lose their certification.213 If a complaint is filed, the issue is reviewed and the review committee of ABGC renders a decision.214 According to the NSGC, the average counselor sees about 450 patients per year, with a range of 200 to 1000.215
Regarding guidelines, another major consideration needs to be the new professional standard of conduct. Before January 1, 2007, the majority of pregnant American women 35 years of age or older were offered amniocentesis.216 It has become standard practice for women older than 35 to be offered genetic counseling and diagnostic testing.217 Yet, women under the age of 35 have higher fertility rates and account for 80 percent of children born with Down Syndrome.218 Therefore, the new American College of Obstetricians and Gynecologists guidelines recommend that all pregnant women, regardless of age, be offered such counseling and testing.219 Whether it is good policy to test all women in order inform them whether they are carrying a fetus with a chromosomal anomaly must be judged in the light of the risks to their health, options for treatment, especially of possible life-threatening conditions, and the benefits of knowing in advance that a child with special needs may be born. If the benefits of such testing exceed the risks, then expanding the prenatal guidelines to include all women may be necessary220
Many older pregnant women know before they are even pregnant that they will be offered, or even urged, to undergo amniocentesis or another genetic screening if they become pregnant. While women may not know what amniocentesis entails or are confused as to what the test results mean, they know that they are in a high-risk category by virtue of their maternal age alone.221 In contrast, younger women do not consider themselves to be in a high-risk category.222 In the past, younger women were only referred for prenatal tests if they had a family history of hereditary disease, or if genetic screening suggested a need for diagnostic testing.223
Research is being conducted on the cost-effectiveness of having every pregnant woman in the United States undergo prenatal genetic testing.224 Currently, medical science has no treatment for Down Syndrome itself, but may provide treatment for certain conditions that frequently accompany it. While diagnosing Down Syndrome before birth permits or even encourages parents to choose abortion, it also permits those parents who accept a child that is differently abled to prepare for the arrival of a child with special needs. As more is learned about genetic anomalies, more genetic tests will be recommended.225 Obstetricians and gynecologists may be adopting policies that have the effect of increasing abortion for genetic anomalies.226 Is this the result of informed consent, or a reflection of our bias against people with disabilities?
Non-directiveness: The Unattainable Ideal
A major tenant of genetic counseling is non-directiveness. Genetic counselors are taught to be: educational, nondirective, unconditional, and supportive.227 The Code of Ethics states that counselors should strive to: (1) seek out and acquire all relevant information required for any given situation; (2) continue their education and training; (3) remain aware of current standards of practice; and (4) recognize the limits of their own knowledge, expertise, and therefore competence in any given situation.228 With regard to their relationship with their clients, counselors should strive to: “(1) enable their clients to make informed decisions, free of coercion, by providing or illuminating the necessary facts and clarifying the alternatives and anticipated consequences, and (2) refer clients to other competent professionals when they are unable to support the client.”229 The hallmark of genetic counseling is nondirectiveness.230 Nondirective, or client-centered, counseling is the process of skillfully listening to a client, encouraging the person to explain his or her concerns, helping the client to understand the relevant issues, and determine a course of action.231 This type of counseling is “client centered” because it focuses on the client, rather than on the counselor. The counselor primarily listens to and tries to help the client discover and follow improved courses of action.232 They especially “listen between the lines” to learn the full meaning of their client’s feelings.233 They look for assumptions underlying the counselee’s statements and for the events the counselee may, at first, have avoided talking about. Counselors often say a person’s feelings may be likened to an iceberg.234 The feelings and emotions expressed by the patient may be only the “tip” of the iceberg. Underlying these expressed feelings and emotions lay the ultimate dilemma to be faced by the patient, which the patient is almost always reluctant to reveal.
Despite their commitment to nondirectiveness, genetic counselors may subtly promote prenatal testing because of values they hold dear.235 As stated earlier, medical professionals are not neutral about the value of information, and the view that gathering of information as a sign of responsible behavior and good decisionmaking.236 Moreover, genetic counselors and patients tend to believe that getting information about the fetus is not only the right thing to do, but a form of reassurance and a way to get a sense of control over the potentially overwhelming experience of reproduction.237 Also, some popular books have linked the notion of good parents with prenatal testing.238 Professor Suter has suggested that more genetic counselors hold stronger views about the “tightness” or “wrongness” of abortion for genetic anomalies and its effect on the overall makeup of society than do most physicians.239
Most genetic counselors attempt to achieve the goal of nondirectiveness yet there are countless stories of those who do not. As a result, genetic counselors are not without fault. Although they are supposed to be nondirective, many people simply cannot make a decision. Professor Getting, among other genetic counselors, has experienced women continually asking questions such as, “What would you do in my situation?”240
How directive is it to talk patients through the decision-making process? “Talking through” means discussing the things the genetic counselor would consider important and that others have considered important, such as: How stable is the patient’s marriage? Is the patient financially capable of raising this child? Is the patient’s job flexible enough to handle a child with special needs? Should the patient stay at home instead? Will the patient psychologically and physically be able to handle the special needs of this child? What would it be like to raise this child? How would the child affect the patient’s other children? What is the patient prepared to do and not do for the special needs, both physical and psychological, of this child?241
Is the above directive or non-directive? It appears the questions asked show value judgments and concern on the part of the genetic counselor. Many genetic counselors believe they can achieve nondirectiveness through consciously being aware of their word choice, body language and maintaining an awareness of the gravity of the information being shared.242 Furthermore genetic counselors argue that being nondirective does not mean that you cannot give directions to people, and distributing information on genetic screening to people is not directive because the patient can chose whether or not to follow those guidelines.243 Although much discussion has occurred regarding nondirectiveness, there does not appear to be any exact guidelines regarding what is and what is not nondirective.244 The end result is although most genetic counselors may consciously attempt to be nondirective by remaining nonjudgmental and refraining from imposing their beliefs and values, the very words they use and questions they raise may subtly influence the patient’s decision more than they realize.
Nondirectiveness, as described in the literature,245 may oversimplify how counselors understand the counseling experience and it may ignore the very real possibility that genetic counselors do not share a uniform understanding of nondirectiveness.246 Indeed, no good empirical data exists regarding what nondirectiveness really means to genetic counselors.247 Moreover, the traditional account of nondirectiveness tends to describe a process that is potentially incoherent or inconsistent in some respects.248
While striving to achieve nondirectiveness is the correct approach, it is impossible to advance one moral viewpoint over another (i.e., deference to technology, knowledge and the like) and be neutral toward all moral viewpoints. Professor Christy A. Rentmeester, Ph.D.249 said it this way, “Despite the best efforts of a counselor to convey “value neutral” facts, risk assessment by the counselee and family is done according to normative analysis, experience with illness, and definitions of health. Each of these factors must be known by the genetic counselor in order to relate those facts which she acknowledges as relevant to the decisions that will be made by those people seeking the genetic information. In the expression of genetic risks, the authority of medical language impacts a person’s understanding of epidemiological data.”250 Moreover, the strong values genetic counselors place on knowledge, information and technology likely reinforces the public’s acceptance and expectation of prenatal testing.251 Thus, even a genetic counselor’s best effort to be nondirective has some elements of directiveness.
Contrasting the Differences Between Genetic Screening and Diagnostic Testing
It is also important to under
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