Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: The current state of fetal computed tomography

Yoshika Akizawa, Gen Nishimura, Tomonobu Hasegawa, Masaki Takagi, Yayoi Kawamichi, Yoshio Matsuda, Hideo Matsui, Kayoko Saito

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

We report a case of osteogenesis imperfecta (OI) (OMIM166210) type II, in which a prenatal diagnosis was made by three-dimensional computed tomography (3D-CT). Subsequent molecular analysis revealed a recurrent, heterozygous mutation in COL1A2. Fetal CT is a powerful tool for visualizing the fetal skeleton and can provide a definitive diagnosis of fetal skeletal dysplasias; however, whether or not its employment for prenatal diagnosis is warranted in terms of fetal radiation risks remains controversial, both medically and ethically. Based on our experience, we review the current state of fetal CT for the diagnosis of skeletal dysplasias, with a discussion of the relevant literature.

Original languageEnglish
Pages (from-to)203-206
Number of pages4
JournalCongenital anomalies
Volume52
Issue number4
DOIs
Publication statusPublished - 2012 Dec 1

Keywords

  • Genetic counseling
  • Osteogenesis imperfecta type II
  • Prenatal diagnosis
  • Skeletal dysplasia
  • Three-dimensional computed tomography

ASJC Scopus subject areas

  • Medicine(all)

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