Tay-Sachs Disease: Prenatal Diagnosis

Fifteen pregnant women with a 25 percent risk of delivering a child with Tay-Sachs disease were monitored by amniocentesis and hexosaminidase A assays of amniotic fluid, uncultured amniotic cells, and cultured amniotic cells. Tay-Sachs disease was diagnosed prenatally in six fetuses; the diagnosis w...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1971-04, Vol.172 (3978), p.61-64
Main Authors: O'Brien, John S., Okada, Shintaro, Fillerup, Dorothy L., Veath, M. Lois, Adornato, Bruce, Brenner, Paul H., Leroy, Jules G.
Format: Article
Language:English
Subjects:
Abortion, Therapeutic
Amniocentesis
Amniotic fluid
Amniotic Fluid - analysis
Amniotic Fluid - enzymology
Brain Chemistry
Children
Culture Techniques
Cultured cells
Cytoplasmic Granules
Drainage
Enzymes
Female
Fetal Diseases - diagnosis
Fetus
Fibroblasts
Gangliosides
Gangliosides - analysis
Glycoside Hydrolases - analysis
Hexosamines - analysis
Humans
Lipidoses - diagnosis
Male
Methods
Microscopy, Electron
Pregnancy
Spinal Cord - pathology
Tay Sachs disease
Time Factors
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Summary:Fifteen pregnant women with a 25 percent risk of delivering a child with Tay-Sachs disease were monitored by amniocentesis and hexosaminidase A assays of amniotic fluid, uncultured amniotic cells, and cultured amniotic cells. Tay-Sachs disease was diagnosed prenatally in six fetuses; the diagnosis was confirmed in one child after birth and in five fetuses after therapeutic abortion. Prenatal diagnosis indicated the absence of Tay-Sachs disease in nine other fetuses; this diagnosis was confirmed postnatally in six, three are still in utero.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.172.3978.61