Examining the Ethics of Prenatal Testing and Diagnosis
Kiley M. Bonin
Liberty High School
The first question that Jim and Sue, a couple expecting their first baby, asked the doctor
during their primary appointment was “Is our baby healthy?” This is a common question among
future parents, and it can be answered through prenatal testing. Prenatal testing is an umbrella
term that describes procedures that gather information about both a pregnant woman and her
developing fetus during a pregnancy. Tests can vary from standard ultrasounds to specialized
assessments, looking for a particular and possibly harmful trait. Although the purpose of the
testing process is to ensure the health of the mother and child, various ethical issues are brought
to attention when discussing this topic. Regulations can be installed to help avoid ethical
dilemmas that are introduced by prenatal testing and diagnosis, for the positive outcomes of the
procedures outweigh the negative possibilities for women.
There are two main types of prenatal genetic testing; invasive and noninvasive. Noninvasive
prenatal testing is typically performed through a blood test that analyzes fetal DNA in a mother’s
blood stream and determines the risk of many genetic disorders, including Down syndrome and
other chromosomal abnormalities (Mayo Clinic Staff, 2013). The most common noninvasive test
is referred to as cell-free fetal DNA (cffDNA) sampling. Invasive prenatal testing involves
procedures that generally remove and analyze samples from inside the uterus itself. The two
most familiar types of invasive diagnostic tests are chorionic villus sampling (CVS), in which a
sample is taken from the placenta for analyzation, and amniocentesis, in which a sample of
amniotic fluid is taken from within the mother’s uterus. While all are effective methods of
determining potential genetic abnormalities, invasive prenatal testing tends to have a higher risk
of damaging a fetus or even causing miscarriage, while noninvasive tests pose virtually no risk
to the mother or developing child. “This development holds the promise of NIPD [noninvasive
prenatal diagnosis] testing early in pregnancy and without the small, but significant risk of foetal
loss that the current invasive procedures of chorionic villus sampling (CVS) and amniocentesis
(AP) carry” (de Jong, Dondorp, de Die-Smulders, Frints, & de Wert, 2010, p. 272). Both types
of test can detect a variety of characteristics, from the sex of the baby, to Down Syndrome, to
Tay-Sachs disease. In addition to being less hazardous, noninvasive prenatal tests can also be
performed earlier in a pregnancy, at about 9 weeks of development. CVS cannot be undertaken
until about 13 weeks of gestation and amniocentesis cannot be attempted until after 16 weeks
(Dickens, 2014, Introduction). The earlier detection period is very appealing to many people
because the majority believe that a fetus grows more valuable and more human as development
progresses. However, because noninvasive procedures are relatively new and are still being
assessed, it is recommended that these tests be coupled with the more traditional forms of
prenatal testing. Professor Bernard M. Dickens (2014) states, “the American College of
Obstetricians and Gynecologists (ACOG) cautiously approved cffDNA testing...as a primary
screening test rather than as a replacement for the precision obtained with CVS or amniocentesis.
The test is also approved as a follow-up test for women with a positive first- or second-trimester
screening test result” (Introduction).
When faced with the risk of having a child with a genetic disorder or abnormality, there are
several ways in which potential parents can proceed. If a couple is aware of potential defects due
genetic screening prior to a pregnancy, they may choose not to reproduce at all or accept the risk
of having a disabled child and reproduce, hoping for the best. Another option is to become
pregnant with the aid of artificial reproductive procedures. This includes surrogacy, in which the
infant will only have the DNA of the parent that does not carry an affected gene, or in vitro
fertilization, in which gametes and zygotes are analyzed and set aside if defective. This ensures
that the mother will carry a child without a specific, undesired trait. However, when parents do
not discover a genetic abnormality until after a child has been conceived, they have the choice to
either give birth and learn about treatment options for the disability and how to cope with those
challenges, or the option to terminate the pregnancy (American Medical Association, 1994,
Current Abilities to Select or Manipulate for Genetic Disorders and Traits section). Due to
prenatal testing and diagnosis, couples are presented with a range of choices and they are able to
select which is the best alternative for them.
One of the main appeals that prenatal testing presents is the opportunity it provides for couples
to prepare for a child with a serious genetic disorder. According to Dickens, “disclosure [of
possible genetic defects] may allow parents the advantage of time to make suitable plans”
(Dickens, 2014, Appropriateness of offering testing section). Plans may include learning about
the nature of the disability, how the disorder will affect the child, what special care will be
required of the parents, possible treatment options, as well as saving funds in advance to support
the child through any treatments or procedures that may be necessary. In this manner, prenatal
testing helps families face the challenges of raising an affected child.
On the other hand, a concern that many have in regards to prenatal testing and diagnosis is the
possibility of parents resorting to abortion when the fetus displays what the American Medical
Association (AMA) refers to as “benign genetic traits” (1994, Potential for Exacerbation of
Discriminatory Practices section). These traits include potential disorders or characteristics that
are not serious or of importance in a society that values equality, but may be considered
undesirable by certain populations due to discrimination. Dickens states that “disclosure of fetal
inheritance of genes predisposing, for instance, to breast cancer may provide opportunities for
parents to seek to control their future children’s lives to an extraordinary degree and to terminate
pregnancies on irrational and alarmist grounds” (2014, Appropriateness of Offering Testing
section). According to the American Cancer Society (2014), more than 230,000 new cases of
breast cancer are diagnosed in the United States each year. Because so many women are able to
face the challenges presented by breast cancer every day and live through them, it is
unreasonable to terminate a pregnancy simply because there is a possibility that the child will
develop breast cancer much later in life.
Another common concern when discussing the ethics of prenatal testing is genetic selection
based on gender. There are some situations in which sex selection is necessary, namely when a
sex-linked disorder is detected, but the termination of a pregnancy based on gender preference is
not included among the exceptions. The American Medical Association explains that, although
gender inequality is an issue that is being addressed in the United States, studies still show that
male children are generally preferred over female children (1994, Potential for Exacerbation of
Discriminatory Practices section). This preference suggests that the termination of female
fetuses will be more common than male fetuses when prenatal diagnoses are disclosed. Sex
selection is a huge issue because “it implicitly fosters the value of one sex over the other; it
[confirms] that sex is a governing factor in how humans behave; and it treats gender, a genetic
trait, as a disease” (American Medical Association, 1994, Potential for Exacerbation of
Discriminatory Practices section).
Certain measures can be taken to avoid unethical termination of pregnancies based on
insignificant traits. Noninvasive prenatal tests are currently recommended only for women with a
high risk of bearing a child with a serious congenital disorder. A woman is considered to be
high-risk when she is pregnant at 35 years of age or older, has experienced a positive result on a
past first trimester screening, the possibility of aneuploidy (abnormal number of chromosomes)
was suggested by an ultrasound, has had a past trisomy birth, or is aware of a genetic condition
carried by either herself or her partner (Stokowski & Klugman, 2013). This type of testing is not
extremely common at this time, which may be due in part to the fact that the cost of a
noninvasive prenatal test in the United States is typically between $795 and $2000 (Dickens,
2014, State of the diagnostic art section). However, the American College of Obstetricians and
Gynecologists predicts that noninvasive technologies will improve and the cost will decrease,
making them more accessible to low, or non-risk populations (Dickens, 2014, Introduction). If
this prediction is correct and the availability of cffDNA sampling and similar tests becomes less
limited, genetic selection and termination based on unimportant characteristics will become a
larger issue. In order to avoid this, it should be mandated by law that women who receive
prenatal diagnoses that extend beyond the standard tests, such as ultrasounds, must be considered
high-risk.
One benefit to noninvasive prenatal testing and diagnosis is that it is still a developing field.
There is a great amount of potential for the improvement and growth of these procedures,
including the possibility of processing the entire genome of a fetus before it is even born as well
as in-utero genetic modifications through gene therapy. “Gene therapy is the replacement or
repair of an undesired gene with a desired gene, and may provide a promising treatment for
genetic disorders resulting from a single gene defect” (American Medical Association, 1994,
Current Abilities to Select or Manipulate for Genetic Disorders and Traits section). Going handin-hand with this is also the possibility to substantially reduce the occurrence of congenital
diseases. The American Medical Association explains that, “A primary goal of genetic selection
and manipulation is to increase the capacity to diagnose, treat, an[d] eliminate disorders which
are genetically caused” (1994, Elimination of Disease section). Prenatal testing helps to shed
light on the possibility of gene therapy being effective as early as the embryonic stage of
development as well as on the elimination of severe genetic abnormalities. This development
could mean a substantial improvement in world health. In the future, it may be rare to encounter
someone diagnosed with Down Syndrome, just as it had been uncommon to hear of someone
with polio since the creation of the vaccine in the 1950’s.
While prenatal testing is typically viewed as a beneficial procedure in the United States, it has
been seen to do more harm than good in others, specifically Latin countries. Many nations
provide prenatal testing and diagnosis to pregnant women, but do not provide them with the
option to legally terminate a pregnancy, even when a serious congenital disorder is found. “In
developed regions, 81 per cent of countries allow abortions for fetal impairment, whereas in less
[developed] regions only 26 per cent allow abortions on these grounds” (Ballantyne, Newson,
Luna, & Ashcroft, 2009, p. 50). Because abortion is not legal, these women must either have a
child with a usually expensive and serious condition or resort to an unsafe and illegal abortion.
However, a study conducted buy Quadrelli suggests that 89 per cent of couples in a Latin
American country that discovered their child would have Down Syndrome preferred termination
to treatment (as cited by Ballantyne, et al., 2009 p. 50). Caring for a child with a congenital
disorder can be very challenging and traumatic for a family, especially when they do not have
the necessary financial resources to provide proper treatment. Because of this, many pregnant
women in Latin countries will opt for unsafe and illegal abortions. According to the World
Health Organization (WHO),“thirteen percent of all maternal deaths worldwide are thought to be
due to unsafe abortion—equating to 68,000 maternal deaths per year ” (as cited by Ballantyne, et
al., 2009, p. 51). This statistic suggests that it is unethical to provide prenatal testing for genetic
abnormalities as an option when the termination of a pregnancy is prohibited because it may lead
to hazardous consequences for pregnant women who feel that they are not able to handle a
disabled child. In cases such as these, regulations should be in place that require safe and legal
termination to coincide with prenatal testing in order to give pregnant women the option to
pursue that route. This will ultimately promote the overall health of women by preventing
dangerous attempts at abortion.
When discussing the ethics that surround prenatal testing and diagnosis, there are many
different perspectives and interpretations to consider. There are clear advantages and
disadvantages to prenatal testing from an ethical standpoint. It is important to find a balance
between the two, which can be done by putting regulations and mandates in place that prevent
the abuse of this type of testing and the knowledge learned from it. When determining what
should be done in the instance of a fetus that will potentially be affected by a genetic disease, it
is imperative to keep in mind that there is not a one-size-fits-all answer to this question. Each
family and each pregnancy has its own set of circumstances. However, some things to consider
when reaching a decision on how to proceed in the event of the detection of a disorder are “how
precious is the pregnancy? What is the nature of the illness or handicap that is at stake? How to
cope with the lack of certainty? What additional tests should be conducted?” (Kannai, 2010).
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