莱施-奈恩综合征的孕早期诊断。

First-trimester diagnosis of Lesch-Nyhan syndrome.

作者信息

Gibbs D A, McFadyen I R, Crawfurd M D, De Muinck Keizer E E, Headhouse-Benson C M, Wilson T M, Farrant P H

出版信息

Lancet. 1984 Nov 24;2(8413):1180-3. doi: 10.1016/s0140-6736(84)92743-0.

Abstract

Chorionic villi were sampled at 8-9 weeks' gestation in four women whose fetuses were at risk for Lesch-Nyhan syndrome. Radiochemical assay of hypoxanthine phosphoribosyl transferase activity and fetal sexing (in two fetuses by means of a Y chromosome specific cDNA probe) showed that three fetuses were affected. The biochemical findings were confirmed after therapeutic abortion in two cases and spontaneous abortion in the third. Chorion biopsy and ultramicroscale enzymology may be a suitable alternative to recombinant-DNA-based methods for first-trimester diagnosis in selected diseases where the abnormal gene product is an enzyme expressed in the chorion by the 8th week of pregnancy.

摘要

对4名胎儿有患莱施-奈恩综合征风险的孕妇，在妊娠8 - 9周时采集绒毛膜绒毛样本。通过放射化学法检测次黄嘌呤磷酸核糖基转移酶活性并进行胎儿性别鉴定（其中2例胎儿采用Y染色体特异性cDNA探针），结果显示3例胎儿患病。2例经治疗性流产、1例经自然流产后，生化检查结果得到证实。对于某些特定疾病的孕早期诊断，若异常基因产物是在妊娠8周时绒毛膜中表达的一种酶，绒毛膜活检和超微量酶学检测可能是基于重组DNA方法的合适替代方案。