title: Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology.
abstract: A case of thanatophoric dysplasia (TD) type I associated with severely increased nuchal translucency at first trimester screening for Down syndrome is reported. A 38-year-old woman, G2P1, with previous uneventful pregnancy, was referred for amniocentesis at 16 weeks due to positive first trimester integrated test. Amniocentesis revealed a 46,XX fetus. At 16 weeks gestation, the ultrasound examination of the fetus revealed a narrow chest, short ribs, and a generalized severe shortening of the long bones. The patient underwent a follow-up scan at 19 weeks which demonstrated ultrasound findings consistent with severe rhizomelic micromelia. A wide prenatal panel of gene mutations related with skeletal dysplasia was performed. Nucleotidic sequence using QF-PCR on exons 7,10, 15, 19 of the fibroblast growth factor receptor 3 (FGFR3) demonstrated a 742 C>T (R248C) mutation, which resulted in an Arg248Cys substitution in heterozygous state, leading to a prenatal diagnosis of thanatophoric dysplasia type I. The early diagnosis of this lethal form of skeletal dysplasia directed the prenatal counseling and allowed appropriate obstetric management. Necropsy, post-mortem x-ray, and histologic analysis of the growth plate might aid the diagnosis of TD type I.
authors: Guastalla Civil Hospital, Department of Gynecology & Obstetrics, Guastalla, Italy.
authors: Gabriele
authors: G
authors: Tonni
authors: Daniela
authors: D
authors: Azzoni
authors: Alessandro
authors: A
authors: Ventura
authors: Bruno
authors: B
authors: Ferrari
authors: Claudio De
authors: CD
authors: Felice
authors: Maurizia
authors: M
authors: Baldi
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D048208:Nuchal Translucency Measurement; D017354:Point Mutation; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D013796:Thanatophoric Dysplasia / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics
chemical_list: D051498:Receptor, Fibroblast Growth Factor, Type 3