无创DNA检测结果为高风险孕妇的产前诊断结果及妊娠结局分析
|
摘要
目的:探讨无创DNA检测结果为阳性的高风险孕妇产前诊断结果及妊娠结局。方法:对无创产前DNA检测的5 077名孕妇外周血中游离胎儿DNA进行二代测序,检查结果为阳性者建议进一步做羊水穿刺进行细胞核型分析确认,并进行电话追踪随访。结果:5 077名受检孕妇中检测结果为高风险者64例,包括21-三体28例,18-三体4例,13-三体3例,性染色体异常14例,其他染色体异常8例,微缺失微重复7例。54例进行了羊水穿刺,其中21-三体24例,确诊23例;18-三体4例,确诊2例;13-三体3例,确诊1例;性染色体异常11例,确诊5例;其他染色体异常6例,确诊0例;微缺失微重复6例,确诊2例。1例无创DNA检测结果为阴性,因超声检查提示多发异常,羊水穿刺结果证实为18-三体。结论:无创DNA产前检测对21-三体综合征的阳性预测值较高,但仍有假阳性和假阴性的发生,不能完全代替核型分析;无创DNA产前检测对18-三体综合征和13-三体综合征阳性预测值仍存在很大偏差,但其可检测到微缺失微重复异常,具有染色体核型分析不可代替的优越性。
Objective:To analyze the antenatal diagnosis and pregnancy outcome in high risk pregnant women with positive results of the non-invasive prenatal DNA testing,and discuss its clinical significance.Methods:The non-invasive prenatal DNA testing in 5 077 pregnant women were implemented,the free fetal DNA in maternal peripheral blood of the second generation was sequenced.The positive was confirmed by the cell karyotype detected by amniocentesis,and followed up by telephone.Results:Among 5 077 pregnant women detected by non-invasive prenatal DNA testing,the high risk in 64 cases was identified,which included 28 cases of 21-trisomy,4 cases of 18-trisomy,3 cases of 13-trisomy,14 cases of sexual chromosome abnormality,8 cases of other chromosome abnormality and 7 cases of microdeletion and microduplication.Amniocentesis was performed in 54 cases,the results showed that 23 cases were confirmed among 24 cases of 21-trisomy,2 cases were confirmed among 4 cases of 18-trisomy,1 case was confirmed among 3 cases of trisomy,5 cases were confirmed among 11 cases of sex chromosome,no case was confirmed among 6 cases of other chromosomes,and 2 cases were confirmed among 6 cases of micro deletion and micro duplication.The non-invasive DNA testing results showed 1 case was negative,the ultrasound examination suggested the multiple abnormalities,and the amniocentesis result showed which was the 18-trisomy.Conclusions:The positive predictive value of 21-trisomy syndrome is higher by the non-invasive prenatal DNA testing,but the false positive and false negative result still occur,which cannot completely replace karyotype analysis.The non-invasive DNA prenatal testing is still far from the positive predictive value of 18-trisomy syndrome and 13-trisomy syndrome,but it can detect micro-deletion and micro-repetition abnormalities,which has irreplaceable superiority over the karyotype analysis.
Objective:To analyze the antenatal diagnosis and pregnancy outcome in high risk pregnant women with positive results of the non-invasive prenatal DNA testing,and discuss its clinical significance.Methods:The non-invasive prenatal DNA testing in 5 077 pregnant women were implemented,the free fetal DNA in maternal peripheral blood of the second generation was sequenced.The positive was confirmed by the cell karyotype detected by amniocentesis,and followed up by telephone.Results:Among 5 077 pregnant women detected by non-invasive prenatal DNA testing,the high risk in 64 cases was identified,which included 28 cases of 21-trisomy,4 cases of 18-trisomy,3 cases of 13-trisomy,14 cases of sexual chromosome abnormality,8 cases of other chromosome abnormality and 7 cases of microdeletion and microduplication.Amniocentesis was performed in 54 cases,the results showed that 23 cases were confirmed among 24 cases of 21-trisomy,2 cases were confirmed among 4 cases of 18-trisomy,1 case was confirmed among 3 cases of trisomy,5 cases were confirmed among 11 cases of sex chromosome,no case was confirmed among 6 cases of other chromosomes,and 2 cases were confirmed among 6 cases of micro deletion and micro duplication.The non-invasive DNA testing results showed 1 case was negative,the ultrasound examination suggested the multiple abnormalities,and the amniocentesis result showed which was the 18-trisomy.Conclusions:The positive predictive value of 21-trisomy syndrome is higher by the non-invasive prenatal DNA testing,but the false positive and false negative result still occur,which cannot completely replace karyotype analysis.The non-invasive DNA prenatal testing is still far from the positive predictive value of 18-trisomy syndrome and 13-trisomy syndrome,but it can detect micro-deletion and micro-repetition abnormalities,which has irreplaceable superiority over the karyotype analysis.
引文
[1] 边旭明.胎儿染色体非整倍体的无创 DNA 产前检测 [J].实用妇产科杂志,2013,29(5):330.
[2] 李燕芳,张兰珍,田耕,等.胎儿游离DNA用于无创产前检测21、18、13三体综合征的临床研究[J].中国妇产科临床杂志,2015,16(22):126.
[3] 杨灿锋,石锦平,肖建平,等.无创DNA测序与传统方法在产前诊断应用中的比较[J].中国优生与遗传杂志,2014,22(11):27.
[4] 燕凤,陈必良,徐慧.无创DNA阳性结果的验证和分析[J/CD].中国产前诊断杂志(电子版),2016,8(2):19.
[5] 周舒香,刘妮,杨一琼,等.5076 例孕妇无创 DNA 产前检测结果的分析[J].中国优生与遗传杂志,2018,26 (5):63.
[6] 侯亚萍,杨洁霞,郭芳芳,等.无创DNA产前检测在胎儿染色体非整倍体疾病筛查中的应用[J].检验医学与临床,2018,15(2):1542.
[7] CHEN S,LAU TK,ZHANG C,et al.A method for noninvasivedetection of fetal large deletions/duplications by low coverage massively parallel sequencing[J].Prenat Diagn,2013,33(6):584.
[8] HUANG X,ZHENG J,CHEN M,et al.Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies[J].Prenat Diagn,2014,34(4):335.
[9] 向萍霞,刘翎,冷培,等.游离胎儿DNA高通量基因测序技术在产前筛查的临床应用[J].实用妇产科杂志,2013,29(10):777.
[10] 杨兴坤,郭晓玲,钟进,等.2 433例孕妇血浆胎儿游离DNA无创产前非整倍性检测结果分析[J].中国优生与遗传杂志,2014,22(9):50.
[2] 李燕芳,张兰珍,田耕,等.胎儿游离DNA用于无创产前检测21、18、13三体综合征的临床研究[J].中国妇产科临床杂志,2015,16(22):126.
[3] 杨灿锋,石锦平,肖建平,等.无创DNA测序与传统方法在产前诊断应用中的比较[J].中国优生与遗传杂志,2014,22(11):27.
[4] 燕凤,陈必良,徐慧.无创DNA阳性结果的验证和分析[J/CD].中国产前诊断杂志(电子版),2016,8(2):19.
[5] 周舒香,刘妮,杨一琼,等.5076 例孕妇无创 DNA 产前检测结果的分析[J].中国优生与遗传杂志,2018,26 (5):63.
[6] 侯亚萍,杨洁霞,郭芳芳,等.无创DNA产前检测在胎儿染色体非整倍体疾病筛查中的应用[J].检验医学与临床,2018,15(2):1542.
[7] CHEN S,LAU TK,ZHANG C,et al.A method for noninvasivedetection of fetal large deletions/duplications by low coverage massively parallel sequencing[J].Prenat Diagn,2013,33(6):584.
[8] HUANG X,ZHENG J,CHEN M,et al.Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies[J].Prenat Diagn,2014,34(4):335.
[9] 向萍霞,刘翎,冷培,等.游离胎儿DNA高通量基因测序技术在产前筛查的临床应用[J].实用妇产科杂志,2013,29(10):777.
[10] 杨兴坤,郭晓玲,钟进,等.2 433例孕妇血浆胎儿游离DNA无创产前非整倍性检测结果分析[J].中国优生与遗传杂志,2014,22(9):50.