Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy

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

FETAL AND PEDIATRIC PATHOLOGY, vol.37, no.6, pp.418-423, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 6
  • Publication Date: 2018
  • Doi Number: 10.1080/15513815.2018.1520944
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.418-423
  • Keywords: Merosin deficient muscular dystrophy, prenatal diagnosis, chorion villus sampling, immunohistochemistry, LAMININ ALPHA-2 CHAIN, LAMA2 MUTATIONS, IDENTIFICATION, EXPRESSION, PHENOTYPE
  • Hacettepe University Affiliated: Yes


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.