Abstract：
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron degenerative disease, which is the most common fatal neuromuscular disease in pediatrics with a high carrier frequency and 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. To standardize PGT technologies for SMA, experts from the fields of neurology, pediatrics and reproductive genetics have discussed and drafted this consensus for guiding its clinical application.
摘要：
脊髓性肌萎缩症(SMA)是一种常染色体隐性遗传性运动神经元退行性疾病,这是儿科中最常见的致命神经肌肉疾病，具有很高的携带频率，可导致躯干和四肢进行性对称肌肉无力和萎缩。植入前基因检测（PGT）可有效预防SMA患儿的出生。为了标准化SMA的PGT技术，来自神经学领域的专家，儿科和生殖遗传学已经讨论并起草了这一共识，以指导其临床应用。
