Tay-Sachs disease: prenatal diagnosis.

Science (New York, N.Y.) ·Vol. 172 ·No. 3978 ·1971-04-02 ·Pages 61-4

O'Brien JS, Okada S, Fillerup DL, Veath ML, Adornato B, Brenner PH, Leroy JG

Abstract

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.

MeSH Terms

Abortion, Therapeutic Amniotic Fluid/analysis,enzymology Brain Chemistry Culture Techniques Cytoplasmic Granules Drainage Female Fetal Diseases/diagnosis Gangliosides/analysis Glycoside Hydrolases/analysis Hexosamines/analysis Humans Lipidoses/diagnosis Male Methods Microscopy, Electron Pregnancy Spinal Cord/pathology Time Factors

Chemicals

Gangliosides Hexosamines Glycoside Hydrolases

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

O'Brien J S

Okada S

Fillerup D L

Veath M L

Adornato B

Brenner P H

Leroy J G

Article Info

Journal

Science (New York, N.Y.)

Abbr.

Science

ISSN

0036-8075

DOI

10.1126/science.172.3978.61

Published

1971-04-02

Pages

61-4

Language

English

Region

United States

NLM ID

0404511

Subset

External Links

PubMed source DOI: 10.1126/science.172.3978.61 View journal details

Analysis Services

Tay-Sachs disease: prenatal diagnosis.

Contact

WeChat Official Account