title: Laminin alpha2 deficient congenital muscular dystrophy: prenatal diagnosis.
abstract: 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.
authors.affiliation: Department of Pathology, Chaim Sheba Medical Center, Tel-Hashomer, and Sackler Faculty of Medicine, Tel-Aviv University, Israel.
authors.forename: D
authors.initials: D
authors.lastname: Nass
authors.forename: I
authors.initials: I
authors.lastname: Goldberg
authors.forename: M
authors.initials: M
authors.lastname: Sadeh
mesh_terms: D000911:Antibodies, Monoclonal; D001706:Biopsy; D002824:Chorionic Villi / Q000473:pathology; D005260:Female; D005333:Fetus / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D007797:Laminin / Q000172:deficiency*; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D000911:Antibodies, Monoclonal; D007797:Laminin