Kovacheva K, Pandurski F, Simeonova M
Akush Ginekol (Sofiia). 2001;40(3):41-5.
Osteogenesis imperfecta (OI) is one of the commonest skeletal disorders with an incidence about one in 10,000. It is characterized by clinical and genetic heterogeneity. Congenital lethal OI (OI type II) is the most severe from with a possibility of the early prenatal sonographic diagnosis. The authors present two clinical cases of antenatal diagnosis of OI in 26 and 24 weeks of gestation. The pregnancies were terminated. The accurate specific diagnosis was based on the clinical examination and radiographic features. In case N 2 additional findings were ascites and hydrothorax, that may occasionally be found in literature. The accurate prenatal sonographic diagnosis of lethal skeletal dysplasias and particularly of OI is possible and based on the specific sonographic findings during the second trimester of pregnancy. Ultrasound screening of all pregnant women in early second trimester is an efficient method for detection of many fetal malformations. It requires a participation of the both clinician sonographer and geneticist in a team in order to achieve a specific genetic diagnosis.
成骨不全症（OI）是最常见的骨骼疾病之一，发病率约为万分之一。它具有临床和遗传异质性。先天性致死性OI（II型OI）最为严重，有可能在产前早期通过超声诊断。作者介绍了两例在妊娠26周和24周时产前诊断OI的临床病例。妊娠均已终止。准确的特异性诊断基于临床检查和影像学特征。在病例2中，额外的发现是腹水和胸腔积液，这在文献中偶尔可见。对致死性骨骼发育不良，尤其是对OI进行准确的产前超声诊断是可能的，且基于妊娠中期的特定超声表现。在妊娠中期早期对所有孕妇进行超声筛查是检测许多胎儿畸形的有效方法。为了实现特异性基因诊断，需要临床超声医师和遗传学家组成团队共同参与。
