Prenatal diagnosis of osteogenesis imperfecta congenita by means of fetography.
By means of fetography, prenatal diagnosis of osteogenesis imperfecta congenita was performed on two pregnant women in the 34th week of gestation with familial histories of the disease. In 1 of the 2 cases, the fetogram revealed abnormal twisting of the torso, shortening, and severe angulation deformities of the extremities with callus formation and parchmentlike skull despite clear-cut outline of the scalp. On the basis of these findings, the fetus was diagnosed as osteogenesis imperfecta congenita and subsequently confirmed. Thus, the excellent fetal resolving power of fetography permitted successful prenatal diagnosis of the disease far more easily and precisely than plain roentgenography.
D000328:Adult; D005260:Female; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging* / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011859:Radiography