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First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography |
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| Authors: | Miriam S. Dimaio Richard Barth Kathryn E. Koprivnikar Betsy L. Sussman Joshua A. Copel Maurice J. Mahoney Peter H. Byers Daniel H. Cohn |
| Affiliation: | 1. Department of Radiology, Stanford University Medical Center, Stanford, CA, U.S.A.;2. Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, 8700 Beverly Blvd. Los Angeles, CA and Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA, U.S.A.;3. Department of Radiology, Medical Center Hospital of Vermont, Burlington, VT, U.S.A.;4. Department of Obstetrics and Gynecology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, U.S.A.;5. Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, U.S.A.;6. Departments of Pathology and Medicine, University of Washington, Seattle, WA, U.S.A. |
| 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 α2(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. |
| Keywords: | Osteogenesis imperfecta Ultrasound CVS DNA analysis |