胎儿游离DNA无创产前筛查11067例分析
摘要
目的分析胎儿游离DNA无创产前筛查(non-invasive prenatal screening,NIPS)的检出效率。方法选择2013年1月—2017年12月在郑州市妇幼保健院优生科进行母体外周血胎儿游离DNA检测的孕妇为研究对象,采用高通量测序法对母体外周血中的胎儿游离DNA进行染色体非整倍体检测,根据检测结果分为高风险组和低风险组,对各组孕妇的妊娠结局进行随访,评估NIPS的筛查效率。结果进行NIPS检测的孕妇11 067例,成功随访11 047例,失访20例。高风险组165例,进行羊水染色体核型分析160例,结果一致114例,结果不一致46例;拒绝进一步产前诊断5例,不良妊娠3例,分娩正常儿2例。低风险组10 882例,分娩正常儿10 880例,分娩异常儿2例,1例为1p36缺失综合症,1例为Prader-Willi综合征。总体检出率(detection rate,DR)为:98.2%,假阳性率:0.4%,阳性预测值(positive predictive value,PPV):69.1%,假阴性率:1.7%。21-三体综合征的DR为100%,PPV为100%,18-三体综合征的DR为100%,PPV为94%,13-三体综合征的DR为100%,PPV为40%,22-三体综合征的DR为100%,PPV为100%,性染色体非整倍体的DR为100%,PPV为35%。结论 NIPS在检测胎儿21-三体综合征、18-三体综合征和13-三体综合征的准确性较高,对性染色体异常和染色体微缺失综合征检测的准确性有待进一步提高,合理规范应用NIPS,可以早期高效检出染色体非整倍体胎儿。
引文
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[3] Gregg AR,Skotko BG,Benkendorf JL,et al.Noninvasivve prenatal screening for fetal aneuploidy,2016 update:a position statement of the American College of Medical Genetics and Genomics[J].Genet Med ,2016,18(10):1056-1065.
[4] Benn P,Cuckle H,PergamentE.Non-invasiveprenatal screening for aneuploidy:current status and future prospects [J].Ultrasound Obstet Gyneccol,2013,42(1):15-33.
[5] 战芳,吴丹丹.无创DNA产前检测在诊断胎儿染色体非整倍体疾病中的应用[J].中国优生与遗传杂志,2014,22(11):46-50.
[6] Lau TK,Cheung SW,Lo PS,et al.Noninvasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA:review of 1982 consecutive cases in a single center[J].Ultrasound Obstet Gyneccol,2014,43(3):254-264.
[7] Cheung SW,Patel A,Leung TY.Accutate description of DNA-based noninvasive prenatal screening[J].N Engl J Med,2015,372(17):1675-1677.
[8] 文萍,薛莹,张芹,等.无创产前检测胎儿染色体非整倍体假阴性两例[J].中华医学遗传学杂志,2017,34(6):884-887.
[2] Breman A,Pursley AN,Hixson P,et al.Prenatal chromosomal microarray analysis in a diagnostic laboratory;experience with >1000 cases and review of the literature[J].Prenat Diagn,2012,32(4):351-361.
[3] Gregg AR,Skotko BG,Benkendorf JL,et al.Noninvasivve prenatal screening for fetal aneuploidy,2016 update:a position statement of the American College of Medical Genetics and Genomics[J].Genet Med ,2016,18(10):1056-1065.
[4] Benn P,Cuckle H,PergamentE.Non-invasiveprenatal screening for aneuploidy:current status and future prospects [J].Ultrasound Obstet Gyneccol,2013,42(1):15-33.
[5] 战芳,吴丹丹.无创DNA产前检测在诊断胎儿染色体非整倍体疾病中的应用[J].中国优生与遗传杂志,2014,22(11):46-50.
[6] Lau TK,Cheung SW,Lo PS,et al.Noninvasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA:review of 1982 consecutive cases in a single center[J].Ultrasound Obstet Gyneccol,2014,43(3):254-264.
[7] Cheung SW,Patel A,Leung TY.Accutate description of DNA-based noninvasive prenatal screening[J].N Engl J Med,2015,372(17):1675-1677.
[8] 文萍,薛莹,张芹,等.无创产前检测胎儿染色体非整倍体假阴性两例[J].中华医学遗传学杂志,2017,34(6):884-887.