脊髓性肌萎缩症的胚胎着床前遗传学检测专家共识  

Expert consensus on preimplantation genetic testing for spinal muscular atrophy The Expert Consensus Groupfor Preimplantation Genetic Testing for Spinal Muscular Atrophy

作　　者：脊髓性肌萎缩症胚胎着床前遗传学检测专家共识编写组 闫丽盈 朱小辉 黄锦 乔杰 Yan Liying;Zhu Xiaohui;Huang Jin

机构地区：[1]不详

出　　处：《中华医学遗传学杂志》2022年第2期129-134,共6页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2019YFA0801400,2018YFC1003104,2018YFC1004000)。

摘　　要：脊髓性肌萎缩症(spinal muscular atrophy,SMA)是一种常染色体隐性遗传的运动神经元退行性疾病,主要表现为躯干和四肢近端为主的进行性、对称性肌无力和肌萎缩,人群携带率高,是儿科最常见的致死性神经肌肉病。单基因病胚胎着床前遗传学检测(preimplantation genetic testing,PGT)可以有效预防SMA患儿的出生。为了规范SMA的PGT技术,由中国神经病学、儿科学和生殖遗传学专家组成脊髓性肌萎缩症胚胎着床前遗传学检测专家共识编写组,讨论和制定了本共识,供临床应用参考。Spinal muscular atrophy(SMA)is an autosomal recessive motor neuron degenerativedisease,which is the most common fatal neuromuscular disease in pediatrics with a high carrier frequencyand can lead to progressive symmetrical muscle weakness and atrophy of the trunk and limbs.Preimplantation genetic testing(PGT)can be used to prevent the birth of children with SMA effectively.Tostandardize PGT technologies for SMA,experts from the fields of neurology,pediatrics and reproductivegenetics have discussed and drafted this consensus for guiding its clinical application.

关 键 词：脊髓性肌萎缩症 胚胎着床前遗传学检测 专家共识 

分 类 号：R744.8[医药卫生—神经病学与精神病学]