通过绒毛取样进行孕早期黏脂贮积症II型（I细胞病）的产前诊断。
First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy.
作者信息
Poenaru L, Castelnau L, Dumez Y, Thepot F
出版信息
Am J Hum Genet. 1984 Nov;36(6):1379-85.
Abstract
We investigated the possibility of mucolipidosis type II (ML II) prenatal diagnosis by lysosomal enzyme determination on trophoblast biopsy obtained at 10 weeks of gestation in two 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. We stress the importance of culturing cells from the trophoblast biopsy to ensure a reliable diagnosis.
摘要
我们研究了通过测定孕10周时从处于风险中的两次妊娠所获取的滋养层活检组织中的溶酶体酶，来进行II型粘脂贮积症（ML II）产前诊断的可能性。在两例病例中，基于新鲜绒毛膜绒毛中β-半乳糖苷酶活性降低，在新鲜绒毛膜绒毛上做出了ML II的诊断，流产后，在新鲜胎儿组织以及从滋养层和胎儿培养的细胞上证实了诊断。我们强调从滋养层活检组织培养细胞对于确保可靠诊断的重要性。
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