The second trimester genetic sonogram

被引：22

作者：

Breathnach, Fionnuala M.

Fleming, Ann

Malone, Fergal D.

机构：

[1] Royal Coll Surgeons Ireland, Rotunda Hosp, Dept Obstet & Gynaecol, Dublin 1, Ireland

[2] Rotunda Hosp, Fetal Med Serv, Dublin, Ireland

[3] Columbia Univ, New York, NY 10027 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2007年 / 145C卷 / 01期

关键词：

genetic sonogram; fetal aneuploidy; prenatal diagnosis; screening; Down syndrome;

D O I：

10.1002/ajmg.c.30116

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The genetic sonogram, a fetal anatomic survey targeted at identifying features associated with aneuploidy, is carried out between 15 and 20 weeks' gestation. It has evolved as an adjunctive screening tool capable of further refining the individualized risk-calculation for trisomy that is based on maternal age or serum screening markers. The significance of a range of major structural anomalies and so-called "soft-markers" for trisomy, detected both in isolation and in combination, has been widely investigated. This review serves to describe the key components of the second trimester genetic sonogram and to illustrate how these markers are integrated into risk assessment for aneuploidy. (c) 2007 Wiley-Liss, Inc.

引用

收藏

页码：62 / 72

页数：11

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