Prenatal diagnosis of mucopolysaccharidosis by two‐dimensional electrophoresis of amniotic fluid glycosaminoglycans
Prenatal diagnosis of mucopolysaccharidosis by two‐dimensional electrophoresis of amniotic fluid glycosaminoglycans
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羊水糖胺聚糖二维电泳诊断粘多糖贮积症的产前诊断
DOI：
10.1002/pd.1970020305
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发表时间：
1982
影响因子：
3
通讯作者：
A. D. Patrick
中科院分区：
文献类型：
--
作者：
J. Mossman;A. D. Patrick
通过二维电泳对 72 名有粘多糖贮积症风险的孕妇的羊水中的糖胺聚糖 (GAG) 进行了分析。所有案例均获得明确结果，并且仅需 3 天即可报告。在对培养的羊水细胞进行GAG分析同时进行酶测定的66例中，有65例结果一致。在1例不一致的情况下，GAG分析结果被证明是正确的。预计有 14 次妊娠会受到影响，并且通过对胎儿组织和/或培养细胞的研究或在一种情况下对受影响婴儿的出生进行的研究证实了这一预测。在预计不受影响的 58 例妊娠中，目前有 48 例已足月并产下健康婴儿。没有出现假阴性预测。该分析方法简单、快速，并且在本研究中发现对于产前诊断完全可靠。
Amniotic fluid from 72 pregnancies at risk for mucopolysaccharidosis have been analysed for glycosaminoglycans (GAG) by means of two‐dimensional electrophoresis. Definite results were obtained in all cases and required only 3 days to report. Of the 66 cases for which GAG analysis was accompanied by enzyme assays on cultured amniotic fluid cells, there was agreement of results in 65. In the one case of disagreement the result of GAG analysis proved to be correct. Fourteen pregnancies were predicted to be affected and the predictions were confirmed by studies on fetal tissues and/or cultured cells, or in one case the birth of an affected infant. Of the 58 pregnancies predicted to be unaffected, 48 have so far gone to term and produced healthy infants. There have been no false negative predictions. The analytical method is simple, rapid, and, in this study, has been found completely reliable for prenatal diagnosis.