title: Diagnosis of fetal osteogenesis imperfecta by multidisciplinary assessment: a retrospective study of 10 cases.
abstract: OBJECTIVE
  To describe our 2 year experience in diagnosing prenatal-onset osteogenesis imperfecta (OI) by multidisciplinary assessment.
  
  
  METHODS
  We retrospectively analyzed 10 cases of fetal OI by using prenatal ultrasound evaluation, postnatal radiographic diagnosis, and molecular genetic testing of COL1A1/2.
  
  
  RESULTS
  By postnatal radiographic examination, five patients were diagnosed with type II OI and five were diagnosed with type III OI. A causative variant in the COL1A1 gene was found in four cases of type II and one case of type III OI; a causative variant in the COL1A2 gene was found in two cases of type III OI.
  
  
  CONCLUSIONS
  The definitive diagnosis of fetal OI should be accomplished using a multidisciplinary assessment, which is paramount for proper genetic counseling. With the discovery of COL1A1/2 gene variants as a cause of OI, sequence analysis of these genes will add to the diagnostic process.
authors.affiliation: Prenatal Diagnosis Center of Xiamen's Maternal & Child Health Care Hospital , Xiamen, Fujian , China.
authors.forename: Qichang
authors.initials: Q
authors.lastname: Wu
authors.forename: Wenbo
authors.initials: W
authors.lastname: Wang
authors.forename: Lin
authors.initials: L
authors.lastname: Cao
authors.forename: Li
authors.initials: L
authors.lastname: Sun
authors.forename: Yasong
authors.initials: Y
authors.lastname: Xu
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Zhong
mesh_terms: D000328:Adult; D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D005817:Genetic Counseling; D014644:Genetic Variation; D006801:Humans; D008967:Molecular Biology; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000196:embryology* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal; D055815:Young Adult
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain
keywords: COL1A1/2; collagen type I; gene; osteogenesis imperfecta; radiograph; ultrasound