title: First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography.
abstract: Osteogenesis imperfecta type II was diagnosed prenatally by analysis of DNA obtained from chorionic villus sampling (CVS) performed at 12 weeks of gestation in a woman who previously had had an affected child. The father had been shown to be mosaic for a mutation in the gene (COL1A2) which encodes the alpha 2(I) chain of type I collagen. An affected fetus was predicted by detection of the mutation in amplified chorionic villus genomic DNA. Ultrasound examination at 13 weeks 4 days demonstrated femoral deformity and virtual absence of calvarial mineralization. In pregnancies at risk for osteogenesis imperfecta type II, sonographic evidence of skeletal abnormalities may be evident by 13 weeks' gestation.
authors.affiliation: Department of Genetics and Obstetrics and Gynecology, Yale University School of Medicine, New Haven, CT 06510.
authors.forename: M S
authors.initials: MS
authors.lastname: DiMaio
authors.forename: R
authors.initials: R
authors.lastname: Barth
authors.forename: K E
authors.initials: KE
authors.lastname: Koprivnikar
authors.forename: B L
authors.initials: BL
authors.lastname: Sussman
authors.forename: J A
authors.initials: JA
authors.lastname: Copel
authors.forename: M J
authors.initials: MJ
authors.lastname: Mahoney
authors.forename: P H
authors.initials: PH
authors.lastname: Byers
authors.forename: D H
authors.initials: DH
authors.lastname: Cohn
mesh_terms: D000328:Adult; D001483:Base Sequence; D015193:Chorionic Villi Sampling; D004247:DNA / Q000032:analysis*; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal
chemical_list: D004247:DNA