Berge L N, Marton V, Tranebjaerg L, Kearney M S, Kiserud T, Oian P
Department of Obstetrics and Gynecology, University of Tromsø, Norway.
Acta Obstet Gynecol Scand. 1995 Apr;74(4):321-3. doi: 10.3109/00016349509024458.
The lethal perinatal types (II A-C) of osteogenesis imperfecta are reported to occur in approximately 1:55000 births. We here present three cases in three unrelated families, diagnosed by antenatal ultrasound within one year. A reliable diagnosis of the lethal perinatal type of osteogenesis imperfecta can be made by ultrasound examination during the second trimester, by identification of fractures of the long bones. The compression of the fetal head by the ultrasound probe and the low echogeneity of the cranium, should raise the suspicion of skeletal dysplasia, but is not diagnostic for osteogenesis imperfecta. The diagnosis is confirmed by postmortem examination including radiography and biochemical studies of cultivated fibroblasts from the fetus. Although rare, this lethal condition should be recognized when an ultrasound examination is performed, to prevent unnecessary obstetric intervention. In families with a previously affected fetus, prenatal diagnosis by first trimester transvaginal ultrasound investigation or chorionic villus sampling should be discussed.
据报道，致死性围生期型（II A - C型）成骨不全的发生率约为1:55000活产。我们在此报告三个无关家庭中的三例病例，均在一年内通过产前超声诊断。在孕中期通过超声检查识别长骨骨折，可对致死性围生期型成骨不全做出可靠诊断。超声探头对胎儿头部的压迫以及颅骨的低回声性，应引起对骨骼发育异常的怀疑，但不能确诊为成骨不全。通过包括胎儿培养成纤维细胞的X线摄影和生化研究在内的尸检来确诊。尽管这种致死性疾病罕见，但在进行超声检查时应予以识别，以避免不必要的产科干预。对于有过患病胎儿的家庭，应讨论通过孕早期经阴道超声检查或绒毛取样进行产前诊断。
