Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy

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.

Keywords: Merosin deficient muscular dystrophy; chorion villus sampling; immunohistochemistry; prenatal diagnosis.