Antenatal diagnosis of metabolic disorders

Abstract

Reliable techniques for the intrauterine diagnosis of many inherited metabolic disorders have recently been developed. There is little doubt that the list of disorders detectable in utero will continue to rapidly expand with our knowledge of the biochemical basis of inherited disease. New prenatal diagnostic methods will be developed, and existing procedures will become safer, more accurate, and more readily available. Such developments in the prevention of genetic disease will enable physicians to offer additional options to patients and families affected with these often devastating disorders