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目的探讨单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP array)技术在自然流产遗传学分析中的应用价值。方法选取2016年1月至2017年2月在杭州市第一人民医院就诊的自然流产患者43例,对流产绒毛或胎儿组织应用SNP-array技术进行检测,同时选取15例人工流产妇女作为对照组。结果 43例自然流产样本成功检测43例,成功率为100%,发现染色体异常16例,异常检出率为37.2%(16/43),其中染色体数目异常12例,结构异常4例。对照组15例人工流产样本检测全部成功,未发现染色体异常。结论 SNP-array技术可以作为自然流产物遗传学分析的方法之一,可为患者的病因诊断与再生育风险评估提供指导,具有较好的临床应用价值。
Objective To explore the value of single nucleotide polymorphism array (SNP) in the genetic analysis of spontaneous abortion. Methods From January 2016 to February 2017, 43 cases of spontaneous abortion were treated in Hangzhou First People’s Hospital. SNP-array technique was used to detect abortion villus or fetal tissue, and 15 cases of induced abortion were selected as control group . Results Forty-three cases of spontaneous abortion were successfully detected in 43 cases with a success rate of 100%. There were 16 cases of chromosomal abnormalities and 37.2% (16/43) of them were abnormal, of which 12 cases were abnormal in chromosome number and 4 cases were abnormal in structure. The control group of 15 cases of abortion samples all successful, no chromosomal abnormalities were found. Conclusion The SNP-array technique can be used as one of the methods for genetics analysis of natural fluid products. It can provide guidance for the risk assessment of patients with etiological diagnosis and re-birth risk, and has a good clinical value.