Erdem Fadiloglu1, Gonca Ozten1, Canan Unal1, Beril Talim2, Haluk Topaloglu3, Mehmet Sinan Beksac1. 1. a Division of Perinatology , Department of Obstetrics and Gynecology , Ankara , Turkey. 2. b Division of Pediatric Pathology , Department of Pediatrics , Ankara , Turkey. 3. c Division of Pediatric Neurology , Department of Pediatrics, Hacettepe University Medical Faculty , Ankara , Turkey.
Abstract
GOAL: We evaluated the potential for prenatal diagnosis of merosin-negative muscular dystrophies by immunohistochemistry. MATERIALS AND METHODS: This is a retrospective study of 12 pregnancies with merosin-negative muscular dystrophy in a prior child. Chorionic villus sampling (CVS) was performed between 11th to 13th gestational weeks. Merosin immunohistochemical studies were performed on trophoblastic cells. RESULTS: Two of 12 were "merosin-negative," both were from the same family. Fetal ultrasonographies were evaluated as normal in these pregnancies. Eight of the 10 merosin-positive cases delivered healthy babies. Two were lost to follow-up. CONCLUSION: Prenatal diagnosis of merosin-negative muscular dystrophies can be accomplished by immunohistochemical analysis.
GOAL: We evaluated the potential for prenatal diagnosis of merosin-negative muscular dystrophies by immunohistochemistry. MATERIALS AND METHODS: This is a retrospective study of 12 pregnancies with merosin-negative muscular dystrophy in a prior child. Chorionic villus sampling (CVS) was performed between 11th to 13th gestational weeks. Merosin immunohistochemical studies were performed on trophoblastic cells. RESULTS: Two of 12 were "merosin-negative," both were from the same family. Fetal ultrasonographies were evaluated as normal in these pregnancies. Eight of the 10 merosin-positive cases delivered healthy babies. Two were lost to follow-up. CONCLUSION: Prenatal diagnosis of merosin-negative muscular dystrophies can be accomplished by immunohistochemical analysis.