利用完整绒毛膜绒毛进行胱氨酸病的孕早期诊断。
First trimester diagnosis of cystinosis using intact chorionic villi.
作者信息
Patrick A D, Young E P, Mossman J, Warren R, Kearney L, Rodeck C H
出版信息
Prenat Diagn. 1987 Feb;7(2):71-4. doi: 10.1002/pd.1970070202.
PMID:3575264
Abstract
Cystinosis was diagnosed in the first trimester of pregnancy by studies of uptake and retention of [35S]-cystine by intact biopsy samples of chorionic villi. The diagnosis was confirmed by similar studies on cell cultures of villi and fetal skin fibroblasts.
摘要
通过对绒毛膜绒毛完整活检样本摄取和保留[35S]-胱氨酸的研究，在妊娠早期诊断出胱氨酸病。通过对绒毛细胞培养物和胎儿皮肤成纤维细胞的类似研究证实了诊断。
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