The Ethics of Prenatal Diagnosis
Procreation Ethics Series
by Edmund N. Santurri
[1] According to a recent assessment, it is now possible through
medical procedures such as amniocentesis, fetoscopy and ultrasound,
to diagnose in utero and with considerable accuracy over 280
abnormalities of pregnancy.1 These abnormalities include a
range of fetal genetic disorders (e.g. Down's syndrome, Tay-Sachs
disease, Lesch-Nyhan syndrome, spina bifida) which, if left
unattended, will result in births of children suffering from
serious physical and/or mental disabilities of varying degree.
Given the current state of medical technology, intrauterine therapy
for such disorders is possible only in rare instances. Under
certain circumstances - for example, some cases of spina bifida -
postnatal therapy can restore the hope for a reasonably normal
life. But much depends in such instances on the affliction's degree
of severity, a matter which typically cannot be evaluated at the
time of prenatal diagnosis. For a number of afflictions, moreover,
postnatal therapy cannot remove the primary symptoms of the
condition. Thus, medically indicated treatment for an infant with
Down's syndrome often includes the administration of antibiotics
for complications associated with the condition. Yet Down's
syndrome children inevitably suffer from some degree of mental
retardation, though with special education they often can achieve a
substantial measure of independence and in the largest number of
instances do lead relatively long and happy lives. Finally, for
certain afflictions such as Tay-Sachs disease or Lesch-Nyhan
syndrome the symptoms are harsh, and there exist at present only
minimally palliative postnatal therapies. In the most extreme cases
the destinies of children suffering from these afflictions are
comparatively short lives marked by considerable physical pain and
profound mental retardation.
[2] This general state of affairs has given rise to a number of
perplexing ethical questions. For one thing, a pregnant woman whose
fetus has been diagnosed positively for any of the genetic
disorders untreatable in utero faces with her family a decision of
enormous moral consequence, namely, the decision whether to abort
the fetus or bring it to term, in the latter case for the sake of
rearing the child or giving it up for adoption. To what extent, if
any, can abortion for genetic defect be countenanced from the moral
point of view? What quality-of-life judgments inform any answer to
this question, and how do such judgments bear on our attitudes
toward persons actually born with genetic disease? Arguably the
question of genetic abortion is the most significant of the ethical
problems spawned by the new genetic technology. Nonetheless, the
advent of modem prenatal diagnostic methods does raise other moral
questions which require serious consideration. For example, under
current conditions amniocentesis, the most fruitful of the
diagnostic techniques, involves certain serious risks for the
fetus. Is the taking of such risks morally warranted by the concern
to prevent possible genetic defect or to prepare a family for the
possible birth of a child with genetic disease? Under what
conditions? Finally, there are a number of ethical questions
generated by proposals to make the prenatal detection of genetic
disease a matter of public policy. What sorts of moral constraints
ought to be placed on a screening program? Who, for instance,
should have access to such a program and what will be the moral
responsibilities of individual physician and client participants?
In what follows I examine these and related issues with particular
reference to the question of how Christian theological beliefs
might direct inquiry in such matters.
Risks of Prenatal Diagnosis
[3] Discussion of the health-risk factors in prenatal diagnosis has
focused for the most part on the hazards of amniocentesis, a
procedure designed to detect fetal chromosomal abnormalities and
other fetal disorders.2 As is well-known, this
technique involves the withdrawal of fluid from the amniotic sac by
insertion of a needle through the mother's abdomen into her uterus.
At the earliest, the tap may be performed during the fourteenth
week of pregnancy, by which time there is sufficient amniotic fluid
for extraction. From the fluid, fetal cell cultures can be
developed, and these cells allow testing for chromosomal
aberrations such as Down's syndrome, as well as inborn errors of
metabolism such as Tay-Sachs disease and Lesch-Nyhan syndrome. In
addition, the fluid itself can be analyzed for excess quantities of
the substance alpha-fetoprotein (AFP), a symptom of anencephaly or
spina bifida. If all goes well, results are typically available
around the twentieth week of pregnancy.3
[4] As noted by a recent working paper, the health hazards of
amniocentesis include risks to the mother, to the fetus, and to the
infant during the newborn period.4 Generally speaking,
maternal complications are minor when they occur. Of over 20,000
amniocenteses surveyed in an international study, one maternal
death was reported to have resulted from the procedure. A more
probable health risk to the mother is the possibility of infection
(amnionitis), which still occurs in less than one out of every
thousand cases. All in all, the risks to the fetus are more
serious. First, there is the slight possibility (roughly I percent)
of injury from the needle, but for the most part the signs of such
injury have been nothing more than the presence of skin dimples
indicating healed punctures, though there have been isolated
reports of serious injury such as the loss of an eye. More
important, although there is some disagreement about the
significance of the findings, evidence exists suggesting that
amniocentesis markedly increases the risk of spontaneous abortion.
The working paper cited above sets the risk of abortion from
amniocentesis at something under 1 percent and goes on to note that
the procedure may be particularly hazardous in this regard for a
category of women who typically submit to amniocentesis, namely,
pregnant women with elevated alpha- fetoprotein levels, the
presence of which may be indicated preliminarily by maternal serum
tests. Finally, there is some evidence that the procedure poses
special risks for the infant during the newborn period. For
example, the finding of one study indicated a correlation between
amniocentesis and respiratory distress syndrome. At the same time,
there is no evidence associating the technique with an increase in
stillbirths or infant deaths during the first week after birth.
Neither is there any evidence suggesting that amniocentesis
adversely affects infant development during the first year of life.
Researchers have speculated about the possibility of impediment to
long-range mental development due to sudden loss of pressure caused
by fluid withdrawal. Yet up to now such speculation has been
neither confirmed nor falsified. More generally, the question of
the procedure's long-term developmental effects, whether harmful or
beneficial, remains unresolved.
[5] Given the hazards noted here, any prudent and morally
responsible deliberation about whether amniocentesis should be
undertaken will involve a careful assessment of the technique's
possible benefits in relation to these potential costs. For the
purposes of ethical analysis it is essential to note that judgments
based upon such cost-benefit assessments are inevitably
value-laden, i.e., they presuppose value commitments, which can and
ought to be submitted to moral scrutiny.
[6] To take one example, it is commonly proposed that pregnant
women who have reached the age of thirty-five should submit to
amniocentesis, the reason being that the chances of conceiving a
child with Down's syndrome increase markedly at this age. Yet
frequently this judgment is issued without any explicit comparative
evaluation of the stated risk over and against the hazards of the
procedure itself. Setting aside. for a moment the question whether
selective abortion of a Down's syndrome fetus is acceptable
morally, we must still ask if the risk of giving birth to a Down's
syndrome child is sufficiently grave reason for taking on the
hazards of amniocentesis, particularly the danger of spontaneously
aborting a normal child. And when the issue is posed in this way,
matters are cast in a somewhat different light. As mentioned
earlier, recent assessments set the chances of spontaneous abortion
resulting from amniocentesis at something less than one out of
every hundred cases. At the same time, estimates put the risk of a
thirty-five-year-old woman's conceiving a child with Down's
syndrome at around one in four hundred.5 Given these figures, the
conclusion seems inescapable that a thoughtful judgment supporting
amniocentesis and selective abortion for a pregnant woman of this
age assumes - all other things being equal - that risking the loss
of a probably normal child would be morally preferable to risking
the less likely outcome of giving birth to a child with Down's
syndrome.
[7] The point is that such an assumption raises a number of
important moral questions. Is the life of a Down's syndrome child
so impoverished in quality or so burdensome to family and society
that fear of the relatively remote possibility of giving birth to
such a child overrides any presumptive obligation to care for the
probably normal child? Is an affirmative answer to this last
question consistent with the realization that Down's syndrome
children, though significantly limited in potential, and
exceptionally dependent on familial and social resources, can with
proper care lead flourishing lives?6 Is a decision to risk the
life of a probably normal child reconcilable with a moral outlook
which characterizes human life as a divine gift, and which regards
the bringing forth and nurturing of such life as a human analogy to
the divine love issuing forth in the creation and preservation of
the world? These and related questions would need to be resolved
before a responsible decision could be made.
[8] Of course, different probabilities may lead to different
judgments. For instance, the chance that a woman at age forty-eight
will conceive a child with Down's syndrome is one in twelve. Under
these conditions, the less than 1 percent chance of spontaneous
abortion may begin to look like a minor matter.
[9] Of course, whether a woman ought to submit to the procedure
in this case will depend upon the ultimate purpose in so doing. If
the purpose of amniocentesis is to prepare psychologically or
otherwise for the possible birth of an affected child, the issue
becomes one of determining whether the good which would be served
by such preparation is sufficiently weighty to justify the risk of
an accidental abortion. On the other hand, if upon positive
diagnosis the goal is selective abortion, we are left with the
question of whether such abortion is morally defensible. Indeed, in
some cases (e.g. Lesch-Nyhan syndrome) the gravity of the disorder
combined with a high probability of affliction (50 percent for a
woman who has previously given birth to an affected child) will
serve to shift the weight of moral concern decisively from the
question of the procedure's hazards to the question of selective
abortion on positive diagnosis.
Genetic Abortion
[10] It is likely that there will come a day in the not too distant
future when advances in genetic technology will have made
intrauterine therapy the standard medical response to prenatally
diagnosed genetic disease. Unfortunately, while there has been some
progress in this area, that day has not yet arrived. And until it
does we shall be forced to come to grips with the problem of
abortion for genetic defect. Of course, to characterize genetic
abortion as a problem is not to raise questions about its legality;
even post-amniocentesis abortion, late as it comes in the
pregnancy's term, still falls within the legal limits established
by the Supreme Court. At the same time, I shall be assuming here
that genetic abortion does constitute a moral problem, particularly
from the viewpoint of Christian ethics. Such abortion is morally
problematic given the recognition of a presumptive obligation of
parents to protect their fetuses from harm - an obligation which
has its source not in some putative fact that the fetus is an
actual or a potential person, as some contemporary philosophers
utilize that term (self-conscious, autonomous being), but rather in
the fact that the fetus is an unborn child whose being lays moral
claim to parental care. For Christian ethics this moral claim is
part and parcel of an objectively real parent-child covenant which
mirrors analogically the providential covenant God has forged with
the world. Since care for children typically involves protection
against their destruction, this parental covenant generates a moral
presumption against abortion. To note the presumption, however, is
not to suggest its indefeasibility. Indeed, as far as Christian
ethics is concerned, it is fruitful to regard the problem posed by
genetic abortion as the problem of determining whether there are
conditions under which the moral obligation to care allows a parent
to set aside, albeit tragically, the presumption against fetal
destruction.7
[11] Needless to say, actual determinations in real-life
situations are fraught with empirical uncertainty, moral ambiguity,
and acute human anguish. Still, despite the strong presumption
against fetal destruction mentioned above, I would propose that
some genetic abortions can be regarded intelligibly as expressions
of parental care, though I would emphasize also that one must
discriminate carefully among cases, as well as acknowledge a
measure of tentativeness about particular judgments. Consider the
example of Tay-Sachs disease. A child suffering from this condition
appears to be normal shortly after birth but within months begins
to show signs of lethargy, weakness, and arrested psycho-motor
development. Eventually the stricken child is over- come by even
graver symptoms, e.g., blindness, deafness, proclivity to seizures,
paralysis, and profound mental retardation. Death typically occurs
between the ages of three and five. Granted these circumstances, it
is certainly reasonable to suggest that a decision to abort a
Tay-Sachs fetus is warranted precisely by the concern to promote
its best interests because it is reasonable to argue that death is
preferable to continued existence from the point of view of the
afflicted life. Other examples (e.g., Lesch-Nyhan syndrome,
epider-molysis bulloso lethalis) could be cited. The general point
is that for certain diseases detectable in utero the prospective
symptoms are so harsh that it is meaningful to speak of selective
abortion not as the abandonment of parental care, but quite the
contrary, as the very manifestation of such care.
[12] At the same time, there are other genetic afflictions in
relation to which an argument for genetic abortion is not so easily
made - if it can be made at all. Take, once again, the case of
Down's syndrome. True enough, a Down's syndrome life is
substantially limited in potential; some degree of mental
retardation is almost always a symptom, and there are often
physical disabilities with varying levels of severity. Still,
children stricken with this condition often appear to be quite
happy. They frequently take pride in their accomplishments (witness
the Special Olympics), experience pleasure in bringing joy to
others, and form lasting relationships. Given these facts, it would
be implausible to suggest that for a typical Down's syndrome child
life is not worth living, and thus difficult to construe an
abortion of a Down's fetus as an informed expression of parental
care.
[13] Finally, there will be borderline cases (neural tube
afflictions) where there is enormous variation in degree of
severity and where the exact degree in a given case cannot be
projected by the appropriate prenatal tests. Given a moral
presumption against fetal destruction, perhaps the reasonable
choice under such conditions of uncertainty is to forego the
abortion option in the hope that a tolerable existence will be
achieved. However one assesses the matter, there can be no denying
that abortion decisions in these contexts will be extremely
difficult. The point to stress here is that morally responsible
judgments in such cases will be those which keep in full view the
fetus's well-being. That is, as far as can be determined, would
abortion be in the interests of this child?
Mass Prenatal Screening Programs
[14] Beyond the moral issues related to individual parental choice
about prenatal diagnosis and genetic abortion, we are faced with a
series of important ethical questions generated by mass prenatal
screening proposals. In this section I shall address some of these
questions, though it should be noted at the outset that the issues
are enormous and warrant more detailed treatment than can be given
them here. For the sake of convenience I shall focus on one of the
more commonly discussed proposals, namely, advocacy of a mass
prenatal screening program designed to detect neural tube defects
(e. g. , anencephaly, spina bifida) in the general population.
Needless to say, I proceed with the same moral reservations
expressed earlier about aborting fetuses when such defects are
indicated prenatally. Yet given the current situation, in which
abortions are legally permissible, it becomes important to consider
the proposal with an eye to other ethical questions that have
structured the policy debate.
[15] A mass screening program for neural tube defect would
involve routine implementation of a series of maternal tests
currently provided by a number of medical centers in this country
and others. The first of the series is given between the fifteenth
and twentieth weeks of pregnancy, and is designed to measure AFP
(alpha-fetoprotein) levels in the maternal blood. Excess levels of
AFP in the blood at this stage of pregnancy signify any of the
following conditions: (1) a twin pregnancy (2) a pregnancy further
advanced than originally thought, or (3) a fetus suffering from
neural tube defect. If this first test is positive, then the step
is repeated, and often the result will be negative. If the second
test is positive, then ultrasound is employed to determine whether
condition (1) or (2) obtains. If ultrasound fails to detect either
condition, then amniocentesis is performed to assess the levels of
AFP in the amniotic fluid. An abnormally high level is a fairly
reliable indicator of tubal defect, though there is still the
slight possibility of misdiagnosis. At this juncture, either of two
confirmatory tests is occasionally employed: an advanced ultrasound
technique, which under optimal conditions can detect spina bifida
lesions, or a chemical test for a particular enzyme
(acetylcholinesterase) whose presence is associated with tubal
defect. Given positive results at this point, the odds are very
strong that the mother is carrying an affected fetus. On the other
hand, for those women who have received negative results at any
stage of the process, the likelihood is high that the pregnancy is
unaffected.
[16] Such a screening program gives rise to a number of
difficult moral questions related to the mutual expectations and
responsibilities of individual physician and client
participants.8
How should a physician respond to a woman who wishes to undergo the
screening process but who also announces her intention not to abort
her child under any circumstances? May the physician refuse to
administer the test on the grounds that the procedure would simply
be an imprudent use of valuable resources or, perhaps more
important, an unnecessary risk? Suppose a woman who undergoes part
of the AFP process with provisionally positive results chooses to
abort without submitting to follow-up tests. Should the physician
refuse to perform the abortion? Should the physician refer the
woman to other physicians who will perform the desired services?
Naturally, these sorts of questions will be especially wrenching
for any physician who believes that the moral point of
participating in screening programs is to serve parents in the
process of caring for their children.
[17] There is also the larger issue of who precisely ought to
have access to an AFP screening program. If it is correct to assume
that the moral purpose of such a program should be to provide
support for parental care, then theoretically the only acceptable
condition of access to the system will be the requirement that the
applicant be a parent at risk, and thus any restriction based on
factors such as wealth or geographical location will be unjust.
What this conclusion will mean in practical terms for an AFP
program is more difficult to say. In ideal circumstances all who
are in need and who give informed consent should be served; yet
realistically matters are never so simple. Indeed, under certain
conditions of scarcity perhaps we would have to settle for a
program with limited outreach, where all parents at risk submitted
to some just (e.g., random) preliminary selection process. At any
rate, whether resources are scarce or abundant, a prenatal
screening program which denies those in need an equal opportunity
for entry will be a deficient system from the point of view of
justice.
[18] Of course, any moral demand for equal access to an AFP
screening system will be fully satisfactory only on the assumption
that the overall goals of the program are morally acceptable. As I
intimated earlier, there ought to be reservations about such goals
because there ought to be reservations about the abortions which
the program inevitably encourages. The painful result for someone
sharing the fundamental values expressed in this essay will be a
divided conscience on many of the policy issues related to the
institution and administration of an AFP system. For, while there
is a responsibility to raise questions in the public arena about a
system whose goals are morally problematic, there is also an
obligation within limits to maximize the justice of such a system
already in place. The irony is that in seeking this justice one
will actually be seeking wider opportunity for participation in an
activity one regards as morally dubious. Indeed, I suspect that
this sort of tension will inform ethical reflection on many (though
not all) of the genetic screening proposals likely to be offered in
the future. At the very least, such moral ambivalence will be
experienced by those who believe both that fairness requires equal
access to the services society affords, and that caring for
children, prenatally or postnatally, is an activity which signifies
in the created order the divine providential economy at the heart
ofthe Christian story.9
End Notes
- John Fletcher, Coping with Genetic Disorders: A
Guide for Clergy and Parents (San Francisco: Harper & Row,
1982), 184-89.
- Recently, however, questions have been raised about
the safety of ultrasound. See Barbara Bolson, "Question of Risk
Still Hovers over Routine Prenatal Use of Ultrasound," Journal
of the American Medical Association 247 (April 1982),
2195-97.
- A relatively new technique involving chorion
sampling is now beginning to provide diagnostic results much
earlier in the pregnancy's term. Indications are, however, that the
risks of the technique are comparable to those of amniocentesis
described below. For a general account of the chorion sampling
process see A.V. Cadkin, et al., "Chorionic Villi Sampling: A New
Technique for Detection of Abnormalities in the First Trimester," Radiology 151 (April, 1984), 159-62.
- Duane Alexander, M.D., "Workgroup Paper: Risks of
Amniocentesis in Maternal Serum Alpha-Fetoprotein: Issues in the
Prenatal Screening and Diagnosis Neural Tube Defects, ed. by
Barbara Gastel, et al. (Washington. D.C.: U.S. Government Printing
Office, 1980), 20-24. Most of the information on risks has been
taken from this paper. See also the landmark American, Canadian and
British studies: NICHD National Registry for Amniocentesis Study
Group, "Midtrimester Amniocentesis for Prenatal Diagnosis: Safety
and Accuracy," Journal of the American Medical Association
236 (1976), 1471-76; Nancy E. Simpson, et al., "Prenatal Diagnosis
of Genetic Disease in Canada: Report of a Collaborative Study,"
Canadian Medical Association Journal 115 (1976), 739-48;
MRC Working Party on Amniocentesis, "An Assessment of the. Hazards
of Amniocentesis," British Journal of Obstetrics and
Gynecology 85: Supplement no. 2 (1978),1-41.
- Department of Health and Human Services,
"Amniocentesis for Prenatal Chromosomal Disorders" (Atlanta: Public
Health Service, Center for Disease Control, 1980), 15.
- See David E and Victoria S. Allen, Ethical
issues in Mental Retardation (Nashville: Abingdon, 1979),
51.
- Of course, this view of the fetus's moral status
and the general stance on abortion are both controversial, but
neither can be defended at length here. For an extended exploration
of the notion that the fetus is an unborn child see William Werpehowski, "The Pathos and Promise of Christian Ethics: A Study
of the Abortion Debate," (unpublished paper).
- Natalie Abrams, "Workgroup Paper: Ethical issues in MSAFP Screening Programs," in
Maternal Serum
Alpha-Fetoprotein, ed. by Gastel, et al.
- I am indebted to Edward Langerak, Paul Nelson, and
Rache D. Santurri for helpful conversations bearing on the contents
of this pamphlet.