PMID: 64110Jan 1, 1977Paper

Prenatal genetic diagnosis

American Family Physician
M M Sandstrom, A Milunsky

Abstract

More than 100,000 children are born in the U.S. each year with major congenital defects or genetic disorders, with or without mental retardation. Advances in prenatal diagnosis have now made it possible to detect an increasing number of these disorders in utero. Carrier detection is advised prior to pregnancy, rather than after the birth of a defective child, or during pregnancy itself. Patients have a right to know about their genetic risks and should have the freedom to exercise their options.

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Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

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