Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy

Fadiloglu E. , Ozten G., Unal C. , Talim B. , Topaloglu H., Beksac M. S.

FETAL AND PEDIATRIC PATHOLOGY, cilt.37, ss.418-423, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 37 Konu: 6
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1080/15513815.2018.1520944
  • Sayfa Sayıları: ss.418-423


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.