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, sa.6, ss.418-423, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 6
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1080/15513815.2018.1520944
  • Dergi Adı: FETAL AND PEDIATRIC PATHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.418-423
  • Anahtar Kelimeler: Merosin deficient muscular dystrophy, prenatal diagnosis, chorion villus sampling, immunohistochemistry, LAMININ ALPHA-2 CHAIN, LAMA2 MUTATIONS, IDENTIFICATION, EXPRESSION, PHENOTYPE
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.