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Clinical Chemistry 18: 179-187, 1972;
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Clinical Chemistry, Vol 18, 179-187, Copyright © 1972 by the American Association for Clinical Chemistry

Prenatal Diagnosis of Genetic Disorders: Trials and Tribulations

Ronald G. Davidson 1 and Mario C. Rattazzi 1

1 Division of Human Genetics, Children’s Hospital of Buffalo, 219 Bryant St., Buffalo, N. Y. 14222; and the Department of Pediatrics, State University of New York at Buffalo.

Prenatal detection of genetic disorders by amniocentesis in the second trimester of pregnancy, followed by studies of amniotic fluid cells, has added a new dimension to genetic counseling. This paper reviews the technique, indications, results, and complications, with emphasis on the problem of interpretation of results, particularly in the detection of fetuses with metabolic diseases.


Key Words: amniocentesis • karotyping • genetic counseling • Tay—Sachs disease • hexosaminidase • cystic fibrosis • metachromatic leukodystrophy • cell culture • Down’s syndrome






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Copyright © 1972 by the American Association for Clinical Chemistry.