广东地区23852例孕妇无创产前筛查指征及结果分析  

Analysis of indications and results of non-invasive prenatal testing in 23 852 pregnant women from Guangdong Province

作　　者：彭海山[1] 黄华洁 杨洁霞[1] 侯亚萍[1] 郭芳芳[1] 齐一鸣[1] 尹爱华[1] Peng Haishan;Huang Huajie;Yang Jiexia;Hou Yaping;Guo Fangfang;Qi Yiming;Yin Aihua(Medical Genetic Centre,Guangdong Women and Children Hospital,Guangzhou 511442,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广州511442

出　　处：《新医学》2018年第12期878-883,共6页Journal of New Medicine

基　　金：十三五国家重大专项课题三(2016YFC1000703);广东省医学科学技术研究基金(B2017057)

摘　　要：目的探讨无创产前基因检测(NIPT)在产前筛查中的临床应用价值。方法收集23 852例孕妇检测指征和结果,对提示高风险孕妇建议进一步行有创产前诊断,对比分析NIPT与核型或微阵列结果。结果 23 852例孕妇的检测指征中,以血清学筛查临界风险(30.18%)及高风险(26.14%)居多。NIPT共检出446例高风险病例,常见的21-、18-、13-三体综合征占高风险总例数的37.39%。其中有226例选择进一步行有创产前诊断,确诊21-三体综合征高风险67例、18-三体综合征14例、13-三体综合征12例、性染色体异常54例、染色体缺失或重复57例、其他染色体数目异常21例以及多条染色体异常1例,NIPT诊断21-三体综合征的PPV为88.06%,18-三体综合征的PPV为78.57%,13-三体综合征的PPV为33.33%,性染色体的阳性预测值(PPV)为33.33%,染色体缺失/重复的PPV为15.79%,其他染色体数目异常的PPV为4.76%。21-、18-、13-三体综合征的复合PPV达79.57%。在对NIPT低风险孕妇的随访中检出8例染色体异常病例。结论 NIPT对21-、18-、13-三体综合征具有较高的检测效能,但是仍然存在假阳性与假阴性的局限性,仅可作为筛查手段,在临床工作中应做好NIPT检测前和检测后的咨询工作。Objective To assess the application value of non-invasive prenatal testing(NIPT)in prenatal screening.Methods The testing indications and results of23852pregnant women who underwent NIPT were collected.Those with a potential high risk further received invasive prenatal diagnosis.The detection results between NIPT and karyotyping and chromosomal microarray analysis(CMA)were statistically compared.Results Among the testing indications of23852pregnant women,the critical risk(30.18%)and high risk(26.14%)of serum screening accounted for the dominant percentage.NIPT demonstrated446patients were high risk cases and37.39%of them were diagnosed with21-,18-and13-trisomy syndrome.Among them,226cases chose to further receive invasive prenatal diagnosis and67women were diagnosed with high-risk21-trisomy syndrome,14with18-trisomy syndrome,12with13-trisomy syndrome,54with sex chromosomal abnormality,57with chromosomal deletion/duplication,21with other chromosomal abnormality and1with multiple chromosomal abnormalities.The positive predictive value of NIPT in the diagnosis of21-trisomy syndrome was88.06%,78.57%for18-trisomy syndrome,33.33%for13-trisomy syndrome,33.33%for sex chromosomal abnormality,15.79%for chromosomal deletion/duplication and4.76%for other chromosomal abnormality,respectively.The composite positive predictive value for21-,18-and13-trisomy syndrome was up to79.57%.During subsequent follow-up,chromosomal abnormality was detected in8low-risk pregnant women by NIPT.Conclusions NIPT possesses relatively high efficiency in the diagnosis of21-,18-and13-trisomy syndrome,whereas it still yields false negative/positive outcomes.Therefore,NIPT can serve as a screening tool.Comprehensive pre-and post-NIPT counseling should be performed in clinical practice.

关 键 词：无创产前基因筛查 应用价值 指征 阳性预测值 

分 类 号：R714.5[医药卫生—妇产科学]