Present status of intrauterine diagnosis of genetic defects

Genetic counseling has rapidly changed from a simple presentation of Mendelian probability to the identification of high risk marriages and now the in utero diagnosis of specific genetic defects, both chromosomal and biochemical. Techniques for more rapid, safe, and accurate intrauterine diagnosis of an increasing number of genetic defects are being integrated into the practice of medicine almost as rapidly as they are being developed. Continued carefully controlled studies of the precise risks to the mother and fetus are essential. Centralization of facilities and the formation of a central registry will prove to be of great value in identifying patients at risk, eliminating duplication of services, particularly for rare disorders, and evaluating present and future techniques. The current state of knowledge of prenatal detection of genetic disorders is presented. These techniques provide some parents with methods for having children without fear of having a child with a specific deformity. In addition to the development of approaches which will increase the number of disorders detectable in utero, the potential for treatment of genetic disorders is unlimited.