SNP-array技术联合染色体核型分析在胎儿超声异常产前诊断中的应用

Application of single nucleotide polymorphisms array technique combined with chromosome karyotype analysis in prenatal diagnosis of fetal ultrasonic abnormality

目的探讨单核苷酸多态性芯片(SNP-array)技术联合染色体G显带核型分析在胎儿超声异常产前诊断中的应用价值。方法选取就诊的产前胎儿超声异常的孕妇406例,知情同意后采集孕妇羊水同时进行染色体G显带核型分析和SNP-array技术检测胎儿全基因组拷贝数变异(CNVs),比较两种方法的检出率。结果孕妇年龄为(31±6)岁(范围为19~43岁),产前诊断时的孕周为(21±5)周(范围为孕16~33周),两种方法联合检测成功率为100%。在406例胎儿超声异常的孕妇羊水标本中,染色体G显带核型分析异常检出率为8.13%(33/406),SNP-array技术的异常检出率为14.04%(57/406)。两种方法联合检测异常检出率为16.50%(67/406)。结论在产前胎儿超声异常的孕妇中,SNP-array技术联合染色体G显带核型分析技术能更有效地提高染色体疾病的检出率,从而为产前超声异常孕妇妊娠决策提供更加有效的遗传咨询,并为其再次生育提供有效的指导。

Objective To explore the application value of single nucleotide polymorphism microarray technology combined with chromosome karyotype G-band analysis in prenatal diagnosis of fetal ultrasonic abnormality.Methods 406 pregnant women with the prenatal fetal ultrasound abnormalities were selected in the prenatal diagnosis center of our hospital,amniotic fluid was collected after informed consent of pregnant women and karyotype G-band analysis and SNP-array technology were performed simultaneously to detect the fetus of the whole genome copy number variants.Results Combination of two methods,the detection success rate was 100%,with the age of pregnant women in(31±6) years old(19 ~43 years old) and the gestational age in(21±5) weeks(16~33 weeks). Amniotic fluid samples were collected from 406 pregnant women with abnormal fetal ultrasound,the abnormal detection rate of chromosome karyotype analysis was 8.13%(33/406),the abnormal detection rate of SNP-array technology was 14.04%(57/406). Combination of two methods,the abnormal detection rate was 16.50%(67/406).Conclusion In prenatal fetal ultrasound abnormalities in pregnant women,SNP-array combined with chromosome karyotype G-band analysis can improve the detection rate of chromosome diseases more effectively,and to providing more effective genetic counseling for pregnant women with abnormal prenatal ultrasound and effective guidance for their reproduction.