Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1

被引：2

作者：

Zhen, L. ^{[1
]}

Pan, M. ^{[1
]}

Han, J. ^{[1
]}

Yang, X. ^{[1
]}

Liao, C. ^{[1
]}

Li, D. Z. ^{[1
]}

机构：

[1] Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China

来源：

JOURNAL OF OBSTETRICS AND GYNAECOLOGY | 2015年 / 35卷 / 07期

关键词：

Thanatophoric dysplasia type 1; nuchal translucency; fibroblast growth factor receptor 3 (FGFR3) gene; prenatal diagnosis; high-resolution melting analysis; RESOLUTION MELTING ANALYSIS; SKELETAL DYSPLASIAS; PRENATAL-DIAGNOSIS; MUTATIONS; PREGNANCIES; THICKNESS; FETUSES;

D O I：

10.3109/01443615.2015.1006593

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Thanatophoric dysplasia (TD) is the most frequent form of lethal skeletal dysplasia. Prenatal diagnosis is commonly accomplished in the second-trimester scan, but occasionally TD is found to be associated with increased nuchal translucency (NT) at first-trimester screening for aneuploidies. TD may not be clearly distinguished from the other skeletal dysplasias. A definite diagnosis can be established by molecular genetic analysis to find out the abnormal mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. We reported a case of TD type 1 detected by first-trimester NT measurement, and confirmed by molecular analysis of FGFR3 gene using high-resolution melting analysis.

引用

页码：685 / 687

页数：3

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