Clinical Laboratory, The Second People's Hospital of Zhaoqing, Zhaoqing, The People's Republic of China.
Clinical Laboratory, The Second People's Hospital of Zhaoqing, No. 2, Jiansheer Street, 526000, Zhaoqing City, Guangdong province, The People's Republic of China.
BMC Med Genomics. 2023 Mar 1;16(1):39. doi: 10.1186/s12920-023-01468-0.
A total of 5,200 pregnant women in Zhaoqing city, Guangdong Province, were screened to identify spinal muscular atrophy (SMA) mutation carriers to guide the prevention of SMA and prevent the birth of children with SMA.
Exons 7 and 8 (E7 and E8) of the survival motor neuron (SMN) 1 gene were detected in women using real-time fluorescence quantitative polymerase chain reaction. SMN1 and SMN2 copy numbers in those who were initially identified as carriers were verified via targeted region capture and next-generation sequencing. When both partners were identified as carriers, prenatal diagnosis of the fetus was performed.
Among the screened women, 75 SMA carriers (71 cases had both E7 and E8 heterozygous deletions and 4 cases only had an E7 heterozygous deletion) were identified, with a carrier frequency of 1.44% (95% confidence interval: 1.31-1.65%). Three couples where both spouses were identified as SMA carriers, and their three fetuses were subjected to prenatal genetic analysis. Of the three, one had homozygous deletions of E7 and E8 and the other two had heterozygous deletions of E7 and E8. After a detailed prenatal consultation, the former couple decided to terminate the pregnancy.
Through screening and prenatal diagnosis of pregnant women in Zhaoqing city, Guangdong Province, the incidence of SMA can be reduced, prevention of birth defects can be improved, incidence of birth defects can be effectively minimized.
对广东省肇庆市的 5200 名孕妇进行脊髓性肌萎缩症（SMA）突变携带者筛查，以指导 SMA 的预防，防止 SMA 患儿的出生。
采用实时荧光定量聚合酶链反应对女性进行生存运动神经元（SMN）1 基因外显子 7 和 8（E7 和 E8）的检测。对初步鉴定为携带者的人，通过靶向区域捕获和下一代测序验证 SMN1 和 SMN2 拷贝数。当双方均被鉴定为携带者时，对胎儿进行产前诊断。
在所筛查的女性中，发现 75 名 SMA 携带者（71 例同时存在 E7 和 E8 杂合缺失，4 例仅存在 E7 杂合缺失），携带者频率为 1.44%（95%置信区间：1.31-1.65%）。有 3 对夫妇均被鉴定为 SMA 携带者，他们的 3 个胎儿接受了产前基因分析。其中，1 个胎儿存在 E7 和 E8 的纯合缺失，另外 2 个胎儿存在 E7 和 E8 的杂合缺失。经过详细的产前咨询，前一对夫妇决定终止妊娠。
通过对广东省肇庆市孕妇的筛查和产前诊断，可以降低 SMA 的发生率，提高出生缺陷的预防效果，有效降低出生缺陷的发生率。
