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目的:对脊髓性肌萎缩症(spinal muscular atrophy, SMA)家系进行产前诊断，为SMA产前分子诊断提供遗传咨询指导意见。方法:纳入2016年至2019年在本院产前诊断中心就诊的21个家系开展研究，应用多重连接探针扩增(multiplex ligation-dependent probe amplification, MLPA)技术检测n SMN基因的拷贝数。应用短串联重复序列(short tandem repeat, STR)技术排除母源污染。n 结果:21个家系共23次妊娠的产前诊断结果显示14例胎儿为SMA携带者，1例为患儿，8例为正常人。44例携带者父母样本中共发现3例“2＋0”携带者(n SMN1基因为2拷贝，但2个拷贝均位于同一条染色体，另一条染色体n SMN1等位基因缺失)。n 结论:MLPA技术可准确评估当前胎儿患SMA疾病风险。遗传咨询时应高度重视“2＋0”携带者家庭生育SMA患儿潜在风险，提供具有针对性的遗传咨询和再生育指导意见，降低SMA患儿的出生率。“,”Objective:To carry out prenatal diagnosis for families with high risk for spinal muscular atrophy (SMA) by using multiplex ligation-dependent probe amplification (MLPA).Methods:Twenty-one families were enrolled. MLPA was used to detect copy numbers of n SMN1 and n SMN2 genes. Maternal contamination was excluded by using a short tandem repeat method.n Results:For 23 fetuses from the 21 families, 14 were identified as carriers, 1 as SMA patient, and 8 as normal. By linkage analysis of parental samples, three individuals were determined as silent (2+ 0) carriers.Conclusion:MLPA can determine the carrier status of SMA. The identification of three silent (2+ 0) carriers among the 44 parental samples indicated a risk for such families. Genetic counseling and reproduction guidance should be provided for such families.