TY - JOUR
T1 - Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography
T2 - The current state of fetal computed tomography
AU - Akizawa, Yoshika
AU - Nishimura, Gen
AU - Hasegawa, Tomonobu
AU - Takagi, Masaki
AU - Kawamichi, Yayoi
AU - Matsuda, Yoshio
AU - Matsui, Hideo
AU - Saito, Kayoko
PY - 2012/12
Y1 - 2012/12
N2 - 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.
AB - 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.
KW - Genetic counseling
KW - Osteogenesis imperfecta type II
KW - Prenatal diagnosis
KW - Skeletal dysplasia
KW - Three-dimensional computed tomography
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U2 - 10.1111/j.1741-4520.2011.00346.x
DO - 10.1111/j.1741-4520.2011.00346.x
M3 - Article
C2 - 23181495
AN - SCOPUS:84870160649
SN - 0914-3505
VL - 52
SP - 203
EP - 206
JO - Congenital anomalies
JF - Congenital anomalies
IS - 4
ER -