Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology.
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| 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.
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| Authors | Gabriele Tonni, Daniela Azzoni, Alessandro Ventura, Bruno Ferrari, Claudio De Felice, Maurizia Baldi |
| Journal | Fetal and pediatric pathology (Fetal Pediatr Pathol) Vol. 29 Issue 5 Pg. 314-22 ( 2010) ISSN: 1551-3823 [Electronic] England |
| PMID | 20704477 (Publication Type: Case Reports, Journal Article) |
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