Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.

Autor: Trujillo-Tiebas MJ; Department of Genetics, Fundación Jiménez Díaz (CIBERER), Madrid, Spain., Fenollar-Cortés M, Lorda-Sánchez I, Díaz-Recasens J, Carrillo Redondo A, Ramos-Corrales C, Ayuso C
Jazyk: angličtina
Zdroj: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2009 Aug; Vol. 26 (8), pp. 455-60. Date of Electronic Publication: 2009 Sep 30.
DOI: 10.1007/s10815-009-9339-1
Abstrakt: 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.
Databáze: MEDLINE
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