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Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy.
Fetal and Pediatric Pathology 2018 October 26
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.
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.
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