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

研究成果: Article査読

7 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)203-206
ページ数4
ジャーナルCongenital anomalies
52
4
DOI
出版ステータスPublished - 2012 12月

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 胎生学
  • 発生生物学

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