产前超声检测21三体综合征中的先天性白内障。

Prenatal ultrasound detection of congenital cataract in trisomy 21.

作者信息

Romain M, Awoust J, Dugauquier C, Van Maldergem L

机构信息

Departement of Gynaecology and Obstetrics, Clinique Louis Caty, Baudour, Belgium.

出版信息

Prenat Diagn. 1999 Aug;19(8):780-2. doi: 10.1002/(sici)1097-0223(199908)19:8<780::aid-pd634>3.0.co;2-9.

DOI:10.1002/(sici)1097-0223(199908)19:8<780::aid-pd634>3.0.co;2-9

PMID:10451530

Abstract

A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosis of this complication of Down syndrome.

摘要

一名45岁女性因高龄产妇在妊娠早晚期接受了系列超声筛查。培养的羊水细胞染色体核型显示21号染色体完全三体。随后，胎儿在24周时被诊断出患有先天性白内障。这是唐氏综合征这一并发症的首例产前诊断。