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Publisher Summary This chapter discusses the prenatal diagnosis of inherited metabolic diseases. For many congenital disorders, preventive measures can be initiated only during the pregnancy . Because screening tests available are reliable, relatively non-invasive, and pose no undue risk to the fetus, it should be possible to test all pregnancies in any population for several of these conditions. For the single-gene disorders, on the other hand, it is necessary to predetermine the pregnancies at risk. This is because there are a very large number of diseases—more than 4300 distinct genetic conditions have been recognized—and most of them occur at a very low frequency. In the face of an increased risk of having a child with a disease for which there is no known treatment, prenatal diagnosis offers a couple the assurance of having their own unaffected children by avoiding the birth of affected ones. It is essential, of course, to have a precise diagnosis of the condition for which the couple is at risk and some estimate of the extent of the risk of another child being affected. |
