Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY(2015)
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.
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关键词
Thanatophoric dysplasia type 1,nuchal translucency,fibroblast growth factor receptor 3 (FGFR3) gene,prenatal diagnosis,high-resolution melting analysis
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