Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, People's Republic of China.
Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, People's Republic of China.
J Mol Diagn. 2020 Jun;22(6):817-822. doi: 10.1016/j.jmoldx.2020.03.001. Epub 2020 Mar 20.
Spinal muscular atrophy (SMA) is a relatively common, life-shortening, autosomal recessive neuromuscular disease. The carrier frequency of SMA ranges from approximately 0.98% to 2.02%, depending on ethnicity. The American College of Medical Genetics has therefore recommended population screening for SMA carrier status, regardless of race or ethnicity. We performed the largest-scale carrier screening for SMA carriers in mainland China. Carrier screening was offered to 36,470 pregnant women between July 2017 and June 2019, of whom 13,069 women accepted the screening program [35.83%; 95% credibility interval (CI), 35.34%-36.33%]. Copy numbers of exons 7 and 8 in the SMN1 gene were detected by real-time quantitative PCR, and the results were confirmed by multiplex ligation-dependent probe amplification. A total of 231 women were identified as carriers (1.77%; 95% CI, 1.56%-2.01%), indicating a carrier prevalence of approximately 1:56 in the population. After detailed genetic counseling, 207 paternal partners were recalled and tested. Both partners were carriers in 10 couples, of whom prenatal diagnosis was implemented in seven, and one fetus was diagnosed with SMA. Carrier screening could provide couples with informed reproductive choices. Our workflow and experience of carrier screening may facilitate the popularization of SMA carrier screening in mainland China.
脊髓性肌萎缩症（SMA）是一种相对常见的、缩短寿命的常染色体隐性神经肌肉疾病。SMA 的携带率因种族而异，范围约为 0.98%至 2.02%。因此，美国医学遗传学学院建议对 SMA 携带者进行人群筛查，无论种族或民族如何。我们在中国内地进行了规模最大的 SMA 携带者筛查。2017 年 7 月至 2019 年 6 月，为 36470 名孕妇提供了携带者筛查，其中 13069 名妇女接受了筛查计划[35.83%；95%置信区间（CI），35.34%-36.33%]。通过实时定量 PCR 检测 SMN1 基因外显子 7 和 8 的拷贝数，并通过多重连接依赖性探针扩增进行结果确认。共有 231 名妇女被确定为携带者（1.77%；95%CI，1.56%-2.01%），表明人群中的携带者患病率约为 1:56。经过详细的遗传咨询，召回并检测了 207 名父系伴侣。10 对夫妇均为携带者，其中 7 对夫妇进行了产前诊断，1 例胎儿被诊断为 SMA。携带者筛查可以为夫妇提供知情的生殖选择。我们的携带者筛查工作流程和经验可能有助于 SMA 携带者筛查在中国内地的推广。
