无创DNA产前检测技术筛查唐氏综合征应用效价分析
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摘要
目的:比较无创DNA产前检测技术与传统孕中期血清学筛查对唐氏综合征筛查临床效价。方法:2014年7月—2017年7月于本院行产前检查的孕妇2217例,在孕中期同时行传统血清学筛查和无创DNA产前检测,随访至孩子出生后42d,以随访结果为最后参照。比较不同筛查方法的检出率。结果:血清学筛查阳性41例(1.9%),无创DNA产前检测阳性19例(0.9%),随访染色体非整倍体异常21例(1.0%),血清学筛查阳性率高于随访结果(P<0.05),无创DNA产前检测阳性率与随访结果无差异(P>0.05);血清学筛查的阳性检出率为81.0%,假阳性率为58.5%,阳性预测率为41.5%,阴性预测率为99.8%,灵敏度为81.0%,特异度为98.9%;无创DNA产前检测技术的阳性检出率为90.4%,假阳性率为0,阳性预测率为100.0%,阴性预测率为99.9%,灵敏度为90.5%,特异度为100.0%。结论:在唐氏综合征筛查中,无创产前DNA检测技术较血清学筛查的准确性和特异度更高,具有更高的阳性检出率,降低了侵入性产前检查和误引产的概率,值得推广应用。
Objective: To compare the clinical application value between non-invasive DNA prenatal testing technology(NIPT) and traditional maternal serum screening(SS) for Down's syndrome(DS) screening. Methods: 2217 pregnant women who underwent prenatal examination were selected as subjects from July 2014 to July 2017. All of them were received maternal SS and NIPT for DS screening during the second trimester pregnancy. All included women were followed up to 42 days after delivery. The results were compared between the two screening methods. Results: 41(1.85%) cases with DS high risk were found by SS, and 19(0.86%) cases with DS high risk were found by NIPT, and 21(0.95%) cases were confirmed with abnormal chromosome aneuploidy after delivery. The positive detection rate, the false positive rate, the positive predictive rate, the negative predictive rate, and the specificity of SS were 81.0%, 58.5%, 41.5%, 99.8%, and 81.0%, and 98.9%, respectively. The positive detection rate, the false positive rate, the positive predictive rate, the negative predictive rate, and the specificity of NIPT were 90.5%, 0.0%, 100.0%, 99.9%, 90.5%, and 100.0%. Conclusion: As for DS screening, NTPT is more accurate and higher specificity with higher positive detection rate when compare to those of SS, which can reduce the probability of invasive prenatal examination and false labor, so it is worthy of promoting.
Objective: To compare the clinical application value between non-invasive DNA prenatal testing technology(NIPT) and traditional maternal serum screening(SS) for Down's syndrome(DS) screening. Methods: 2217 pregnant women who underwent prenatal examination were selected as subjects from July 2014 to July 2017. All of them were received maternal SS and NIPT for DS screening during the second trimester pregnancy. All included women were followed up to 42 days after delivery. The results were compared between the two screening methods. Results: 41(1.85%) cases with DS high risk were found by SS, and 19(0.86%) cases with DS high risk were found by NIPT, and 21(0.95%) cases were confirmed with abnormal chromosome aneuploidy after delivery. The positive detection rate, the false positive rate, the positive predictive rate, the negative predictive rate, and the specificity of SS were 81.0%, 58.5%, 41.5%, 99.8%, and 81.0%, and 98.9%, respectively. The positive detection rate, the false positive rate, the positive predictive rate, the negative predictive rate, and the specificity of NIPT were 90.5%, 0.0%, 100.0%, 99.9%, 90.5%, and 100.0%. Conclusion: As for DS screening, NTPT is more accurate and higher specificity with higher positive detection rate when compare to those of SS, which can reduce the probability of invasive prenatal examination and false labor, so it is worthy of promoting.
引文
[1] 师淑静,宋文龄,姚运壮,等.产前筛查21-三体综合征的研究现状[J].中华医学超声杂志(电子版),2015,12(2):103-107.
[2] 杨瑰艳,陈求珠,石秀凤,等.早孕与中孕期唐氏综合征产前血清学筛查方法及评价[J].中国优生与遗传杂志,2017,25(11):70-72.
[3] 刘梅梅,王福玲.妊娠中期产前筛查及影响因素分析[J].中国妇幼保健,2015,30(36):6547-6550.
[4] 窦琳琳,郭远瑜,杨国绘.无创产前基因检测技术的临床应用效果分析[J].中国卫生检验杂志,2016,26(3):370-372.
[5] 李龙,贺建峰,朱宝生.孕中期三联方案筛查唐氏综合征的meta分析[J].中华围产医学杂志,2016,19(2):119-127.
[6] 谢小欢,麦慧映,曾晓凌.无创产前基因检测对唐氏综合征诊断准确性的影响研究[J].现代诊断与治疗,2017,28(10):1781-1782.
[7] 周志强,王进东.超声联合母体血清AFP、uE3、F-hCG检测在孕早期胎儿唐氏综合征诊断中的价值[J].中国妇幼保健,2017,32(6):1311-1313.
[8] 陈寸,何娟,吉文倩.超声NT测量与血清-hCG及PAPP-A检测在孕11～13+6W唐氏征筛查中的临床应用分析[J].中国优生与遗传杂志,2017,25(1):78-80.
[9] 杨岚,石锦平,吴晓,等.早孕期血清PAPP-A检测联合中孕期血清AFP、free -hCG、uE3检测对DS、ES的筛查效果[J].山东医药,2017,57(35):18-21.
[10] 邵妙伟,胡东.二联和三联血清标志物在胎儿唐氏综合征筛查中的应用比较[J].中国优生与遗传杂志,2015,23(5):35-36.
[11] 张素领,王晓峰,赵维丽,等.3495例高龄孕妇唐氏综合征产前超声及血清学筛查的临床结果分析[J].中国妇幼保健,2015,30(36):6542-6544.
[12] 郑文吉,范琦慧,陈志央,等.中孕期血清三联筛查唐氏综合征假阴性病例分析[J].浙江预防医学,2015,27(11):1154-1156.
[13] 罗颖,鲁婷,陶靖,等.母血游离胎儿DNA检测在染色体非整倍体无创产前诊断的应用[J].中国妇幼保健,2016,31(7):1481-1483.
[14] 张玢,刘建兵,张晓青,等.高通量基因测序产前筛查技术(NIPT)在常州地区的临床应用经验总结[J].中国产前诊断杂志:电子版,2016,8(3):25-30.
[15] Benn P,Cuckle H,Pergament E.Non-invasive DNA prenatal testing for aneuploidy:current status and future prospects[J].Ultrasound Obstet Gynecol,2013,42(1):15-33.
[16] 任明保,王欣,刘新月,等.NIPT假阴性新生儿18-三体一例及文献复习[J].中国妇产科临床杂志,2015,16(3):276-277.
[2] 杨瑰艳,陈求珠,石秀凤,等.早孕与中孕期唐氏综合征产前血清学筛查方法及评价[J].中国优生与遗传杂志,2017,25(11):70-72.
[3] 刘梅梅,王福玲.妊娠中期产前筛查及影响因素分析[J].中国妇幼保健,2015,30(36):6547-6550.
[4] 窦琳琳,郭远瑜,杨国绘.无创产前基因检测技术的临床应用效果分析[J].中国卫生检验杂志,2016,26(3):370-372.
[5] 李龙,贺建峰,朱宝生.孕中期三联方案筛查唐氏综合征的meta分析[J].中华围产医学杂志,2016,19(2):119-127.
[6] 谢小欢,麦慧映,曾晓凌.无创产前基因检测对唐氏综合征诊断准确性的影响研究[J].现代诊断与治疗,2017,28(10):1781-1782.
[7] 周志强,王进东.超声联合母体血清AFP、uE3、F-hCG检测在孕早期胎儿唐氏综合征诊断中的价值[J].中国妇幼保健,2017,32(6):1311-1313.
[8] 陈寸,何娟,吉文倩.超声NT测量与血清-hCG及PAPP-A检测在孕11～13+6W唐氏征筛查中的临床应用分析[J].中国优生与遗传杂志,2017,25(1):78-80.
[9] 杨岚,石锦平,吴晓,等.早孕期血清PAPP-A检测联合中孕期血清AFP、free -hCG、uE3检测对DS、ES的筛查效果[J].山东医药,2017,57(35):18-21.
[10] 邵妙伟,胡东.二联和三联血清标志物在胎儿唐氏综合征筛查中的应用比较[J].中国优生与遗传杂志,2015,23(5):35-36.
[11] 张素领,王晓峰,赵维丽,等.3495例高龄孕妇唐氏综合征产前超声及血清学筛查的临床结果分析[J].中国妇幼保健,2015,30(36):6542-6544.
[12] 郑文吉,范琦慧,陈志央,等.中孕期血清三联筛查唐氏综合征假阴性病例分析[J].浙江预防医学,2015,27(11):1154-1156.
[13] 罗颖,鲁婷,陶靖,等.母血游离胎儿DNA检测在染色体非整倍体无创产前诊断的应用[J].中国妇幼保健,2016,31(7):1481-1483.
[14] 张玢,刘建兵,张晓青,等.高通量基因测序产前筛查技术(NIPT)在常州地区的临床应用经验总结[J].中国产前诊断杂志:电子版,2016,8(3):25-30.
[15] Benn P,Cuckle H,Pergament E.Non-invasive DNA prenatal testing for aneuploidy:current status and future prospects[J].Ultrasound Obstet Gynecol,2013,42(1):15-33.
[16] 任明保,王欣,刘新月,等.NIPT假阴性新生儿18-三体一例及文献复习[J].中国妇产科临床杂志,2015,16(3):276-277.