title: Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.
abstract: 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.
authors: a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , China.
authors: L
authors: L
authors: Zhen
authors: a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , China.
authors: M
authors: M
authors: Pan
authors: a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , China.
authors: J
authors: J
authors: Han
authors: a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , China.
authors: X
authors: X
authors: Yang
authors: a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , China.
authors: C
authors: C
authors: Liao
authors: a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , China.
authors: D Z
authors: DZ
authors: Li
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D009154:Mutation; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000172:deficiency* / Q000235:genetics; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging* / Q000235:genetics*
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3
keywords: Thanatophoric dysplasia type 1; fibroblast growth factor receptor 3 (FGFR3) gene; high-resolution melting analysis; nuchal translucency; prenatal diagnosis