Abstract
The diagnosis of genetic disease in utero in early pregnancy is a new and exciting development with important applications in the management of families with a high risk of producing a child with an hereditary disorder. Techniques currently under investigation are briefly reviewed and include sex chromatin, cytogenetic and biochemical studies on amniotic fluid cells and the biochemical composition of amniotic fluid. The study of amniotic fluid and its contained cells would seem to offer a promising and important approach to the prevention of genetic disease.
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