Prenatal diagnosis of genetic diseases

Abstract

The most important change in genetic counseling in thepast decade has been the development of techiques for the prenatal diagnosis of genetic diseases. These techniques have made it possible, in many instances, to convert genetic counseling from an essentially passive endeavor to one in which the counselors and parents, working together, can take steps to alter the genetic risks to which the offspring of the prospective parents are exposed. As the name implies, the objective of a prenatal diagnosis is to determine whether a fetus believed to be at risk for some genetic disease actually has that disorder. For the most part the information is used by the parents to decide whether they wish to continue the pregnancy or to have it terminated. Although the form of genetic counseling represented by prenatal diagnosis is effective in helping the family make decisions about reproduction, it has only a minimal effect in reducing the incidence of most genetic diseases, and does so by restricting reproduction. It does not gurantee that the counselees will have healthy children, but it does mean that parents who, on the basis of the probability figures, were unwilling to risk reproduction can now have their own children without fearing the birth of a child with a specific, serious genetic disease.