1ST-TRIMESTER PRENATAL-DIAGNOSIS OF MUCOLIPIDOSIS-II (I-CELL DISEASE) BY CHORIONIC BIOPSY
- 1 January 1984
- journal article
- research article
- Vol. 36 (6) , 1379-1385
Abstract
The possibility of mucolipidosis type II (ML II) prenatal diagnosis by lysosomal enzyme determination or trophoblast biopsy obtained at 10 wk of gestation was investigated in 2 pregnancies at risk. Diagnosis of ML II was made in both cases on fresh chorionic villi on the basis of depressed .beta.-galactosidase activity, and after abortion, the diagnosis was confirmed on fresh fetal tissues and on cells cultured from trophoblast and fetuses. The importance of culturing cells from the trophoblast biopsy to ensure a reliable diagnosis is stressed.This publication has 11 references indexed in Scilit:
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