Orginal Publication Date
MCV/Q, Medical College of Virginia Quarterly
The subject of my discussion is prenatal diagnosis of genetic disorders of a metabolic rather than a chromosomal nature. Whereas the chromosomal defects are the result of either the transmission of a translocated chromosome from a single parent to its offspring or an error in meiosis or mitosis, almost all metabolic disorders are inherited in an autosomal recessive fashion. Therefore, except in rare instances, the only clue to the possible presence of an inborn error of metabolism (IEM) in the fetus is that a previous child of the parents has had the disorder. This history identifies both mother and father as heterozygotes for the deleterious gene and thus forewarns that each subsequent pregnancy is at a 1:4 risk of yielding the disorder again. By studying the amniotic fluid of the at-risk fetus, it is now possible to determine if the disorder is present, and if so, to prevent its occurrence by therapeutic abortion. My main purpose is first to review the status of the art of amniocentesis and biochemical analysis of the material thus obtained, and then to examine the impact this procedure will have on the incidence and management of the IEM.
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