Laminin alpha 2 deficient congenital muscular dystrophy: prenatal diagnosis

Laminin alpha 2 chain-deficient congenital muscular dystrophy (CMD) is diag nosed by genetic analysis and by immunohistochemistry. Since laminin alpha 2 chain is expressed in placental trophoblasts, the demonstration of its de ficiency in chorionic villi is a useful aid to prenatal diagnosis. We prese nt our experience with the use of the immunohistochemical method for prenat al diagnosis in four women, all of whom had at least one child with laminin alpha 2 chain-deficient CMD. Immunohistochemistry provided a rapid procedu re for prenatal diagnosis, and follow-up of these four cases confirmed its reliability. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.