| Autor: |
O'Brien JS, Okada S, Fillerup DL, Veath ML, Adornato B, Brenner PH, Leroy JG |
| Jazyk: |
angličtina |
| Zdroj: |
Science (New York, N.Y.) [Science] 1971 Apr 02; Vol. 172 (3978), pp. 61-4. |
| DOI: |
10.1126/science.172.3978.61 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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