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目的 探讨高通量测序技术在韶关市出生缺陷防治中的应用效果.方法 选取我院2015/6-2017/6间妇产科门诊以及本市其他医院转诊的行无创DNA检测孕妇1264例作为研究对象进行研究,所有孕妇均采用高通量测序技术进行诊断,对于诊断结果为阳性者进一步行羊膜腔穿刺确诊.结果 1264例高通量测序孕妇中共有1 9(1.5％)例检测结果为阳性,其中8例为性染色体异常,6例为21三体,2例为18三体,另外13三体、12三体、13三体嵌合体各1例.38例患者中妊娠结局异常的胎儿或新生儿共9例,占比47.4％.其中8例高通量测序检测提示X染色体异常孕妇中,羊膜腔穿刺检测结果显示1例为特纳综合症(46,X)选择性流产,其余7例羊膜腔穿刺检测正常,最后新生儿均正常;6例高通量测序检测提示21三体阳性孕妇中,羊膜腔穿刺检测结果也均提示为21三体阳性,最后均选择性流产;2例高通量测序检测提示18三体阳性孕妇中,羊膜腔穿刺检测结果提示1例为18三体阳性,选择性流产,另1例正常,但新生儿早产且伴随先天性心脏病;另外高通量测序检测提示13三体、12三体和13三体合体各1例,羊膜腔穿刺显示均正常,最后新生儿出生均正常.结论 高通量测序技术能够检测出唐筛高风险及单项值异常情况,与其他产前诊断及筛查技术相比具有较高的准确性,可在韶关市出生缺陷防治中进行推广应用.“,”Objective:To explore the application effect of high throughput sequencing technology in prevention and control of birth defects in Shaoguan City.Methods:1264 cases of pregnant women with noninvasive DNA testing were selected as the study subjects.All pregnant women were diagnosed by high-throughput sequencing.Results were positive for firther amniocentesis confirmed.Results:1264 cases of high-throughput sequencing pregnant women in a total of 19 (1.5％) cases of positive results,of which 8 cases of chromosomal abnormalities,6 cases of 21 trisomy,2 cases of 18 trisomy,another 13 trisomy,13 cases of three-body chimera.38 patients with abnormal pregnancy outcome of the fetus or newborns in 9 cases,accounting for 47.4％.Among them,8 cases of high-throughput sequencing showed that X-chromosome abnormalities in pregnant women,amniocentesis test results showed 1 case of Turner syndrome (46,X) selective abortion,and the remaining 7 cases of amniocentesis was normal,the last neonatal normal.6 cases of high-throughput sequencing test prompted 21 three-body positive pregnant women,amniocentesis test results are also prompted for the 21 three-body positive,and finally selective abortion;2 cases of high-throughput sequencing test prompted 18 trisomy positive pregnant women,Amniocentesis test results suggest that 1 case of 18 trisomy positive,selective abortion,and the other 1 normal,but neonatal premature birth with congenital heart disease.In addition,high-throughput sequencing detection prompted 13 trisomy,12 trisomy 13 trisomy chimerism in 1 case,amniocentesis showed normal,the last neonatal birth were normal.Conclusion:High-throughput sequencing technology can detect the high risk of Tang screening and the individual value of abnormal situation,compared with other prenatal diagnosis and screening technology has a high accuracy,can be in Shaoguan City birth defects prevention and treatment in the promotion and application.