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
收藏
页码：685 / 687
页数：3
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