Gen Nishimura, Atsuhiko Handa, Osamu Miyazaki, Yuko Tsujioka, Jun Murotsuki, Hideaki Sawai, Takahiro Yamada, Yutaka Kozuma, Yuichiro Takahashi, Katsunori Ozawa, Ritusuko Pooh, Masakatsu Sase
Bone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies . The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood samples has had a major impact on the prenatal diagnosis of genetic diseases...
July 2023: British Journal of Radiology