Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: The current state of fetal computed tomography
| Autor: | Kayoko Saito, Yayoi Kawamichi, Tomonobu Hasegawa, Gen Nishimura, Hideo Matsui, Masaki Takagi, Yoshika Akizawa, Yoshio Matsuda |
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| Rok vydání: | 2012 |
| Předmět: |
Embryology
medicine.medical_specialty Fetus medicine.diagnostic_test business.industry Genetic counseling Prenatal diagnosis Computed tomography General Medicine medicine.disease Osteogenesis imperfecta Pediatrics Perinatology and Child Health medicine Fetal Skeleton Radiology Osteogenesis Imperfecta Type II business Developmental Biology Heterozygous mutation |
| Zdroj: | Congenital Anomalies. 52:203-206 |
| ISSN: | 0914-3505 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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