Suppr超能文献

常染色体显性多囊肾病:14周时通过DNA分析和超声进行产前诊断。

Autosomal dominant polycystic kidney disease: prenatal diagnosis by DNA analysis and sonography at 14 weeks.

作者信息

Ceccherini I, Lituania M, Cordone M S, Perfumo F, Gusmano R, Callea F, Archidiacono N, Romeo G

机构信息

Lab. Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy.

出版信息

Prenat Diagn. 1989 Nov;9(11):751-8. doi: 10.1002/pd.1970091103.

Abstract

A pregnant woman affected with autosomal dominant polycystic kidney disease (ADPKD) had a history of an affected fetus, diagnosed by sonography at 29 weeks of pregnancy. The proband's father was also affected. DNA analysis performed on chorionic villi at 11 weeks during a second pregnancy predicted an affected fetus, and sonographic examination at 14 weeks confirmed the diagnosis.

摘要

一名患有常染色体显性多囊肾病(ADPKD)的孕妇有过一个患病胎儿的病史,该胎儿在妊娠29周时通过超声检查确诊。先证者的父亲也患有该病。在第二次怀孕11周时对绒毛膜进行的DNA分析预测胎儿患病,14周时的超声检查证实了这一诊断。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验