Nass D, Goldberg I, Sadeh M
Department of Pathology, Chaim Sheba Medical Center, Tel-Hashomer, and Sackler Faculty of Medicine, Tel-Aviv University, Israel.
Early Hum Dev. 1999 May;55(1):19-24. doi: 10.1016/s0378-3782(98)00108-x.
Laminin alpha2 chain-deficient congenital muscular dystrophy (CMD) is diagnosed by genetic analysis and by immunohistochemistry. Since laminin alpha2 chain is expressed in placental trophoblasts, the demonstration of its deficiency in chorionic villi is a useful aid to prenatal diagnosis. We present our experience with the use of the immunohistochemical method for prenatal diagnosis in four women, all of whom had at least one child with laminin alpha2 chain-deficient CMD. Immunohistochemistry provided a rapid procedure for prenatal diagnosis, and follow-up of these four cases confirmed its reliability.
层粘连蛋白α2链缺陷型先天性肌营养不良（CMD）通过基因分析和免疫组织化学进行诊断。由于层粘连蛋白α2链在胎盘滋养层细胞中表达，因此在绒毛膜绒毛中证明其缺陷有助于产前诊断。我们介绍了在四名女性中使用免疫组织化学方法进行产前诊断的经验，这四名女性都至少有一个患有层粘连蛋白α2链缺陷型CMD的孩子。免疫组织化学为产前诊断提供了一种快速的方法，对这四例病例的随访证实了其可靠性。
