明确广东韶关地区育龄妇女的脊髓性肌萎缩症（SMA）携带率，并为双方均为SMA携带者的夫妇提供产前诊断，以减少SMA患儿的出生。

采用荧光定量PCR技术对2646例孕妇进行SMA的致病基因运动神经元生存基因1（SMN1）第7、8外显子（E7、E8）拷贝数进行检测，对双方均为SMA携带者的高风险夫妇进行产前诊断，并采用多重连接探针扩增技术（MLPA）对胎儿基因结果进行验证。

2646例孕妇中共检出SMA携带者54例（其中41例为SMN1基因E7、E8杂合缺失，1例为单独E7杂合缺失，12例为单独E8杂合缺失），广东韶关地区孕妇SMA携带率为2.04%（54/2646）。在两对双方均为SMN1-E7杂合缺失的夫妇中进行产前诊断，最终检出SMN1-E7、E8杂合缺失胎儿1例，正常基因型胎儿1例，经MLPA验证，与诊断结果一致。

广东韶关地区孕妇的SMA携带率相对较高，有必要对孕妇进行SMA携带者筛查，对夫妻均为SMA携带者的高风险胎儿进行介入性产前诊断，对有效减少SMA患儿的出生，降低出生缺陷发生率具有重要意义。

To determine the carrier rate of spinal muscular atrophy (SMA) among women of reproductive age in the Shaoguan, Guangdong Province, and to provide prenatal diagnosis for couples where both partners are identified carriers, aiming to prevent the birth of SMA-affected infants.

A total of 2646 pregnant women were screened using fluorescent quantitative PCR technology to detect the copy number of exons 7 and 8 (E7, E8) of the survival motor neuron gene 1 (SMN1). Prenatal diagnosis was conducted for high-risk couples who were both SMA carriers, and the fetal genotype results were verified using multiplex ligation-dependent probe amplification (MLPA).

Among the 2646 pregnant women, 54 SMA carriers were identified, yielding a carrier rate of 2.04% (54/2646). The carrier genotypes were categorized as follows: 41 cases had concurrent heterozygous deletions of SMN1 gene E7 and E8, 1 case had an isolated heterozygous E7 deletion, and 12 cases had an isolated heterozygous E8 deletion. Prenatal diagnosis was performed for two couples who were both partners carried a heterozygous SMN1-E7 deletion. The results identified one fetus with a heterozygous deletion of SMN1-E7 and E8 and one fetus with a normal genotype. These findings were consistent with the MLPA verification.

The carrier rate of SMA mutations in the pregnant population is relatively high in Shaoguan region of Guangdong. It is necessary to conduct SMA carrier screening among pregnant women and to perform invasive prenatal genetic diagnosis for high-risk fetuses whose parents are both SMA carriers. This approach is of great significance for effectively preventing the birth of SMA-affected infants and reducing the incidence of birth defects.