PURPOSE: Prenatal diagnosis with ultrasound findings compatible with skeletal dysplasia due to FGFR3 mutations over a 9 year period in pregnancies and abortuses. METHODS: 54 samples were studied. Aneuploidy studies were carried out on all samples. By sequencing analysis, we determined mutations for achondroplasia (ACH), hypochondroplasia (HCH), and type I and type II tanathophoric dysplasia (TD). RESULTS: 2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs. Neither ACH nor HCH occurred in sporadic cases. CONCLUSIONS: Molecular studies in ongoing pregnancies are indicated in cases with an affected parent, a family history with positive molecular studies (maternal anxiety), and when the US finding demonstrates micromelia with a hypoplastic thorax. A protocol for tissues of abortuses should include an X-ray, pathologic anatomy, and genetic studies.
PURPOSE: Prenatal diagnosis with ultrasound findings compatible with skeletal dysplasia due to FGFR3 mutations over a 9 year period in pregnancies and abortuses. METHODS: 54 samples were studied. Aneuploidy studies were carried out on all samples. By sequencing analysis, we determined mutations for achondroplasia (ACH), hypochondroplasia (HCH), and type I and type II tanathophoric dysplasia (TD). RESULTS: 2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs. Neither ACH nor HCH occurred in sporadic cases. CONCLUSIONS: Molecular studies in ongoing pregnancies are indicated in cases with an affected parent, a family history with positive molecular studies (maternal anxiety), and when the US finding demonstrates micromelia with a hypoplastic thorax. A protocol for tissues of abortuses should include an X-ray, pathologic anatomy, and genetic studies.
Authors: F Rousseau; J Bonaventure; L Legeai-Mallet; H Schmidt; J Weissenbach; P Maroteaux; A Munnich; M Le Merrer Journal: J Med Genet Date: 1996-09 Impact factor: 6.318
Authors: C Karadimas; S Sifakis; P Valsamopoulos; C Makatsoris; V Velissariou; G Nasioulas; M B Petersen; E Koumantakis; A Hatzaki Journal: Am J Med Genet A Date: 2006-05-01 Impact factor: 2.802
Authors: P L Tavormina; G A Bellus; M K Webster; M J Bamshad; A E Fraley; I McIntosh; J Szabo; W Jiang; E W Jabs; W R Wilcox; J J Wasmuth; D J Donoghue; L M Thompson; C A Francomano Journal: Am J Hum Genet Date: 1999-03 Impact factor: 11.025
Authors: A J Wyrobek; B Eskenazi; S Young; N Arnheim; I Tiemann-Boege; E W Jabs; R L Glaser; F S Pearson; D Evenson Journal: Proc Natl Acad Sci U S A Date: 2006-06-09 Impact factor: 11.205
Authors: D J Wilkin; J K Szabo; R Cameron; S Henderson; G A Bellus; M L Mack; I Kaitila; J Loughlin; A Munnich; B Sykes; J Bonaventure; C A Francomano Journal: Am J Hum Genet Date: 1998-09 Impact factor: 11.025
Authors: Ji Hyae Lim; Mee Jin Kim; Shin Young Kim; Hye Ok Kim; Mee Jin Song; Min Hyoung Kim; So Yeon Park; Jae Hyug Yang; Hyun Mee Ryu Journal: J Assist Reprod Genet Date: 2010-10-21 Impact factor: 3.412