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Information about Specific Diseases

Physicians have an ethical duty to avoid reinforcing the belief of many women that all children with genetic disease are doomed to marginal lives. Legally, it is tempting to encourage a woman to abort. Even if she regrets the decision later, she cannot sue her physician for discussing too many risks. Women should be given enough information about the impact of the disease on an affected child to make an informed choice. The nature of the disease is important to most patients in making decisions about screening, conception, and abortion. The woman who has uncles, brothers, and sons who are healthy hemophiliacs may have no interest in prenatal diagnosis. The woman who has lost a child to Tay-Sachs disease may choose to avoid conception altogether or use donor sperm to avoid a recurrence.

An informed decision about genetic screening requires that the patient understand the treatment options available for the disease and whether they are curative or palliative. The prospect of having a child with a cleft lip that can be surgically corrected is not nearly so daunting as the prospect of a child with a biochemical defect that will result in a short life of illness and disability.

Knowing the likelihood of a particular fetus's having a genetic defect is also important for the patient's decision. A woman in her forties may find a 1 in 40 chance of Down syndrome an acceptable risk, particularly if she has amniocentesis and abortion as an option. A woman who has one child with Down syndrome and a chromosome attachment that gives her a 1 in 2 chance of conceiving another affected child may not be willing to accept the risk even if she has the same options for prenatal diagnosis.


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