无创DNA检测在高龄孕妇产前筛查中的应用研究
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摘要
目的探讨无创DNA检测和血清学在高龄孕妇产前筛查中的应用。方法收集2016年12月至2017年11月在本院进行血清学产前筛查的孕妇2 405例,其中869例血清学高风险,单胎高龄孕妇行无创DNA产前检测,并对检测结果中21-三体、18-三体、13-三体及性染色体高风险者进行羊膜穿刺术及胎儿染色体核型分析确诊。以染色体核型结果作为检测"金标准",分析比较血清学筛查和无创DNA检测在产前筛查中的显著性差异。结果 869例血清学筛查高风险、单胎高龄孕妇行NIPT检测,高风险34例,阳性率为3.91%,29例NIPT高风险孕妇接受染色体核型分析确诊阳性19例;NIPT检测的假阳性率为1.73%远低于传统的血清学筛查方法(35.34%);高龄孕妇无创DNA检测结果与羊水穿刺胎儿染色体核型分析有较高的符合率,NIPT检测能避免96.08%侵入性诊断;两种筛查方法的假阳性率、特异度、准确度、阳性预测值的显著性差异有统计学意义(P<0.01)。结论无创DNA产前检测在高龄孕妇产前筛查中具有较高的灵敏度、特异度和准确度,提倡临床广泛推广。
Objective To explore the application of non-invasive DNA prenatal testing in the serological prenatal screening of advanced maternal age. Methods 2 405 cases of pregnant women of advanced maternal age in our hospital from December 2016 to November 2017, who experienced serological screening. 869 advanced maternal age with high risk of serology and single fetus were selected for non-invasive DNA prenatal testing, Pregnant women with positive result gin trisomy 21, trisomy 18,trisomy 13 or high-risk sex chromosomal abnormalities underwent cell culture and chromosomal karyotyping, the karyotype results were used as " gold standard" to analyze the significant differences between serological screening and non-invasive DNA testing in prenatal screening. Results 869 serological screening high-risk, single pregnancy, advanced maternal age performed NIPT testing, 34 cases suggested high risk of NIPT, positive rate was 3.91%, 29 cases of NIPT high-risk pregnant women received karyotype analysis, there were 19 cases diagnosed with aneuploidy. The false positive rate of NIPT test was 1.73% far lower than traditional serological screening methods(35.34%); Non-invasive DNA test results for older pregnant women have a higher rate of coincidence with amniocentesis for fetal karyotype analysis, NIPT detection can avoid 96.08% invasive diagnosis; There were statistically significant differences on false the positive rate,sensitivity, specificity, accuracy and positive predictive value of the two methods(P<0.01). Conclusion Non-invasive DNA prenatal testing has a high sensitivity, specificity and accuracy in prenatal testing for advanced maternal age, and deserves clinical promotion.
Objective To explore the application of non-invasive DNA prenatal testing in the serological prenatal screening of advanced maternal age. Methods 2 405 cases of pregnant women of advanced maternal age in our hospital from December 2016 to November 2017, who experienced serological screening. 869 advanced maternal age with high risk of serology and single fetus were selected for non-invasive DNA prenatal testing, Pregnant women with positive result gin trisomy 21, trisomy 18,trisomy 13 or high-risk sex chromosomal abnormalities underwent cell culture and chromosomal karyotyping, the karyotype results were used as " gold standard" to analyze the significant differences between serological screening and non-invasive DNA testing in prenatal screening. Results 869 serological screening high-risk, single pregnancy, advanced maternal age performed NIPT testing, 34 cases suggested high risk of NIPT, positive rate was 3.91%, 29 cases of NIPT high-risk pregnant women received karyotype analysis, there were 19 cases diagnosed with aneuploidy. The false positive rate of NIPT test was 1.73% far lower than traditional serological screening methods(35.34%); Non-invasive DNA test results for older pregnant women have a higher rate of coincidence with amniocentesis for fetal karyotype analysis, NIPT detection can avoid 96.08% invasive diagnosis; There were statistically significant differences on false the positive rate,sensitivity, specificity, accuracy and positive predictive value of the two methods(P<0.01). Conclusion Non-invasive DNA prenatal testing has a high sensitivity, specificity and accuracy in prenatal testing for advanced maternal age, and deserves clinical promotion.
引文
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[7]施丹华,张莉超,卢文波.10 503例无创产前基因检测结果分析[J].中国优生与遗传杂志,2017,25(9):42-43.
[8] Gil MM, Quezada MS, Revello R, et al. Analysis of cell-free DNA in maternal bloodin screening for fetal aneuploidies:updatedmetaanalysis[J]. Ultrasound Obstet Gynecol, 2015,45(3):249-266.
[9]龙洋,罗艳梅,李亚斐,等.无创DNA检测在诊断高龄孕妇胎儿非整倍体中的应用[J].实用妇产科杂志,2017,33(5):373-375.
[10] Hawkins A, Stenzel A, Taylor J, et al. Variables influencing pregnancy termination following prenatal diagnosis of fetal chromosome abnormalitie[J]. Journal of Genetic Counseling, 2013,22(2):238-248.
[11]叶强,胡勤,钟强,等.血清学筛查联合无创产前检测在胎儿常见非整倍体筛查中的应用[J].当代医学,2018,24(24):47-50.
[2]苏虹,孙洪丽,等.无创DNA检测在产前筛查唐氏综合征中的价值研究[J].云南医药,2017,38(4):328-331.
[3]贾海珍.无创性产前基因检测在唐氏高危人群中的应用[J].中外医学研究,2014,12(31):19-20.
[4]薛秀平.孕妇外周血中游离胎儿DNA检测在染色体非整倍体无创产前诊断中的意义[J].中国妇幼保健杂志,2017,32(22):5668-5670.
[5] Lo YM, Tein MS, Lau TK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum:implications for noninvasive prenatal diagnosis[J].Am J Hum Genet, 1998,62(4):768-775.
[6] Evans MI, Wapner RJ. Invasive prenatal diagnostic procedures[J]. Semin Perinatol, 2005,29(4):215-218.
[7]施丹华,张莉超,卢文波.10 503例无创产前基因检测结果分析[J].中国优生与遗传杂志,2017,25(9):42-43.
[8] Gil MM, Quezada MS, Revello R, et al. Analysis of cell-free DNA in maternal bloodin screening for fetal aneuploidies:updatedmetaanalysis[J]. Ultrasound Obstet Gynecol, 2015,45(3):249-266.
[9]龙洋,罗艳梅,李亚斐,等.无创DNA检测在诊断高龄孕妇胎儿非整倍体中的应用[J].实用妇产科杂志,2017,33(5):373-375.
[10] Hawkins A, Stenzel A, Taylor J, et al. Variables influencing pregnancy termination following prenatal diagnosis of fetal chromosome abnormalitie[J]. Journal of Genetic Counseling, 2013,22(2):238-248.
[11]叶强,胡勤,钟强,等.血清学筛查联合无创产前检测在胎儿常见非整倍体筛查中的应用[J].当代医学,2018,24(24):47-50.