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condition. This conflict can take the form of denial and the refusal of indicated testing
or a hypersensitivity to risk and the aborting of fetuses with a fair probability of normal
development. Physicians must be sensitive to both of these reactions, while carefully
documenting the information provided and raising the issue at more than one encounter
so that the woman has an opportunity to reconsider her decisions.
1. Medical Risks
All physicians who care for pregnant women or patients with genetic diseases have a
duty to counsel their patients about the nature of the diseases, their probability of
being passed on to children, and the diagnostic options available. A physician who
does not offer genetic screening because he or she is opposed to abortion, or for any
other reason, has a duty to refer the patient to another physician who can carry out
the necessary counseling and testing. The physician has a duty to provide full
information to the patient. There is no therapeutic exception to informing patients
about potential risks to their unborn children.
In some cases it may be necessary to give a patient medical information about
another person. It is not possible to counsel the children of a patient with
Huntington’s disease without letting the children know about the parent’s disease.
Often the information will have been obtained with a release from the affected
parent. If not, every effort should be made to protect the privacy of the other patient.
Names and other identifying information should not be used, although it is probable
that the patients can determine who is affected. There may also be situations in which
the courts can help persons obtain necessary medical information about genetic
diseases. In most states, adoption records are sealed, but the court that granted the
adoption can order the records opened if there is a compelling reason for doing so.
a) Screening for Neural Tube Defects as a Model
The available tests and medical standards for detecting specific genetic diseases are
changing rapidly. Rather than attempting to discuss each test and disease, this
section identifies commonalities in counseling and testing through a discussion of a
small number of diseases. Currently, maternal serum alpha- fetoprotein (MSAFP)
is the only screening test for genetic diseases recommended for all women.[ ACOG
Technical Bulletin 154. Prenatal Detection of Neural Tube Defects. April 1991.] It
provides a good model for genetic counseling because it is a disease with both a
hereditary component and a random component that defies easy separations into
risk groups. Neural tube defects are common, occurring in 1 or 2 per 1000 births
among couples with no history. With one affected parent, the risk rises to 5% of
births, rising further to 6% to 10% if the couple has two previous affected children.
Despite this genetic link, 90% to 95% of the cases are in families with no previous
history, prompting the recommendation that the screening test be offered to all
pregnant women.
When first made, this recommendation was controversial because the test for
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