Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy

被引：4

作者：

Fadiloglu, Erdem ^{[1
]}

Ozten, Gonca ^{[1
]}

Unal, Canan ^{[1
]}

Talim, Beril ^{[2
]}

Topaloglu, Haluk ^{[3
]}

Beksac, Mehmet Sinan ^{[1
]}

机构：

[1] Dept Obstet & Gynecol, Div Perinatol, Ankara, Turkey

[2] Dept Pediat, Div Pediat Pathol, Ankara, Turkey

[3] Hacettepe Univ, Dept Pediat, Div Pediat Neurol, Med Fac, Ankara, Turkey

来源：

FETAL AND PEDIATRIC PATHOLOGY | 2018年 / 37卷 / 06期

关键词：

Merosin deficient muscular dystrophy; prenatal diagnosis; chorion villus sampling; immunohistochemistry; LAMININ ALPHA-2 CHAIN; LAMA2; MUTATIONS; IDENTIFICATION; EXPRESSION; PHENOTYPE;

D O I：

10.1080/15513815.2018.1520944

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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.

引用

页码：418 / 423

页数：6

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