Role of amniocentesis in the intrauterine detection of genetic disorders.
Role of amniocentesis in the intrauterine detection of genetic disorders.
复制标题
羊膜穿刺术在宫内检测遗传性疾病中的作用。
DOI：
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发表时间：
1970
影响因子：
158.5
通讯作者：
A. Gerbie
中科院分区：
文献类型：
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作者：
H. Nadler;A. Gerbie
摘要对162例高危妊娠孕妇在妊娠13周至18周期间行经腹羊膜腔引流术。羊水细胞的成功培养导致宫内检测出唐氏综合征(10例)、庞氏病(1例)、溶酶体酸性磷酸酶缺乏症(1例)和异色性脑白质营养不良(1例)。这一手术的风险很低，因为在这一系列的患者中没有表现出胎儿或母体并发症。孕中期早期经腹羊水穿刺术获得的羊水细胞的培养提供了一种方法，使患有某些严重遗传疾病的后代的父母能够生下没有这种缺陷风险的孩子。
Abstract One hundred and sixty-two transabdominal amniocenteses were performed between the thirteenth and eighteenth weeks of fetal gestation as part of the management of 155 "high-risk" pregnancies. Successful cultivation of amniotic-fluid cells led to the intrauterine detection of Down's syndrome (10 cases), Pompe's disease (one case), lysosomal acid phosphatase deficiency (one case) and metachromatic leukodystrophy (one case). The risk of this procedure is low since neither fetal nor maternal complications were demonstrated in this series of patients. Cultivation of amniotic-fluid cells obtained by transabdominal amniocentesis early in the second trimester of pregnancy provides a method that enables parents at "high risk" for having offspring with certain serious genetic disorders to have children without risk of such a defect.