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Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy.

作者信息

Fadiloglu Erdem, Ozten Gonca, Unal Canan, Talim Beril, Topaloglu Haluk, Beksac Mehmet Sinan

机构信息

a Division of Perinatology , Department of Obstetrics and Gynecology , Ankara , Turkey.

b Division of Pediatric Pathology , Department of Pediatrics , Ankara , Turkey.

出版信息

Fetal Pediatr Pathol. 2018 Dec;37(6):418-423. doi: 10.1080/15513815.2018.1520944. Epub 2018 Oct 25.

DOI:10.1080/15513815.2018.1520944
PMID:30358464
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.

摘要

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