Diagnosis of fetal osteogenesis imperfecta by multidisciplinary assessment: a retrospective study of 10 cases

Fetal Pediatr Pathol. 2015 Feb;34(1):57-64. doi: 10.3109/15513815.2014.962198. Epub 2014 Oct 7.

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.

Conclusion: 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.

Keywords: COL1A1/2; collagen type I; gene; osteogenesis imperfecta; radiograph; ultrasound.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Collagen Type I / genetics
  • Collagen Type I, alpha 1 Chain
  • Female
  • Genetic Counseling
  • Genetic Variation
  • Humans
  • Molecular Biology
  • Osteogenesis Imperfecta / diagnosis*
  • Osteogenesis Imperfecta / embryology*
  • Osteogenesis Imperfecta / genetics*
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Retrospective Studies
  • Ultrasonography, Prenatal
  • Young Adult

Substances

  • Collagen Type I
  • Collagen Type I, alpha 1 Chain