Increased nuchal translucency with normal karyotype and anomaly scan: What next?

被引：34

作者：

Bakker, Merel ^{[1
]}

Pajkrt, Eva ^{[2
]}

Bilardo, Caterina M. ^{[1
]}

机构：

[1] Univ Groningen, Univ Med Ctr Groningen, Dept Obstet & Gynecol, Fetal Med Unit, NL-9700 RB Groningen, Netherlands

[2] Acad Med Ctr, Dept Obstet & Gynecol, Fetal Med Unit, NL-1100 DD Amsterdam, Netherlands

来源：

BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY | 2014年 / 28卷 / 03期

关键词：

prenatal screening; increased nuchal translucency; normal karyotype; developmental delay; CHROMOSOMALLY NORMAL FETUSES; CONGENITAL HEART-DEFECTS; VENOSUS BLOOD-FLOW; CARDIAC DEFECTS; NOONAN SYNDROME; DOWN-SYNDROME; DUCTUS VENOSUS; EUPLOID FETUSES; 1ST TRIMESTER; FOLLOW-UP;

D O I：

10.1016/j.bpobgyn.2013.10.004

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Over the years, it has become clear that increased nuchal translucency is a marker for chromosomal abnormalities, and it is also associated with a wide spectrum of structural anomalies, genetic syndromes, a higher risk of miscarriage, and intrauterine fetal death. These risks are all proportionally related to the degree of nuchal translucency enlargement. After the initial assessment of increased nuchal translucency, parents should be counselled by the fetal medicine specialist about the possible outcomes and the value of additional karyotyping and array comparative genomic hybridisation. A detailed late first-trimester and subsequent 20-week scan should aim at identifying structural anomalies, with special focus on the fetal heart and subtle dysmorphic features. In the absence of structural anomalies or markers, the chance of a favourable outcome is high. (C) 2013 Elsevier Ltd. All rights reserved.

引用

页码：355 / 366

页数：12

共 100 条

[1] Increased first trimester nuchal translucency: pregnancy and infant outcomes after routine screening for Down's syndrome in an unselected antenatal population [J].