胎儿染色体非整倍体产前筛查中无创产前基因检测的临床价值
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摘要
目的探讨胎儿染色体非整倍体产前筛查中无创产前基因检测的临床价值。方法选择2017年1月-2018年3月深圳市龙岗区妇幼保健院进行无创产前基因检测的900例单胎孕妇作为研究对象。采集孕妇外周静脉血并游离出DNA,后进行高通量测序。对高风险产妇进行羊膜腔或脐静脉穿刺并行染色体核型检测。结果 900例单胎孕妇外周血检测发现,高风险11例,阳性检出率为1.22%,其中21-三体综合征7例,13-三体综合征1例,18-三体综合征3例。无创产前基因检测筛查的11例高风险孕妇进行染色体核型分析,结果显示:无创产前基因检测与染色体核型分析结果的诊断符合率为100.0%;高风险孕妇多有高龄、NT增厚、唐氏筛查提示高风险等无创检测的指征,21-三体综合征染色体核型为(47,XN,+21),13-三体综合征染色体核型为(47,XXX),18-三体综合征染色体核型为(47,XN,+18),孕妇均终止妊娠。结论无创产前基因检测对胎儿染色体非整倍体疾病具诊断符合率较高,具有无创、敏感性高、安全性高的优点,早期筛查胎儿缺陷疾病,值得临床选择。
Objective To explore the clinical value of non-invasive prenatal gene detection in prenatal screening for fetal chromosome aneuploidy. Methods 900 single pregnant women who were tested for noninvasive prenatal gene in our hospital from January 2017 to March 2018 were selected as the subjects. The peripheral venous blood of pregnant women was collected and DNA was free,and the high flux was sequenced. High risk parturients were examined by amniotic cavity or umbilical vein puncture and karyotype detection. Results Among 900 single pregnant women,11 cases were detected with high risk by testing peripheral blood,and the positive rate was 1. 22%. Among them,7 cases were 21-trisomy syndrome,1 case was 13-trisomy syndrome,and 3 cases were18-trisomy syndrome. The chromosomal karyotype analysis of 11 high-risk pregnant women screened by noninvasive prenatal gene detection showed that the coincidence rate of noninvasive prenatal gene detection and chromosome karyotype analysis was 100%. High risk pregnant women had the followingindicators of noninvasive detection: elder age,NT thickening,Down syndrome. The karyotype of 21-trisomy syndrome was(47,XN, + 21),the chromosome karyotype of 13-trisomy syndrome was(47,XXX),the karyotype of 18-trisomy syndrome was(47,XN, + 18). All of the pregnant women with high risk terminated pregnancy. Conclusion Noninvasive prenatal gene detection has higher diagnostic accuracy for fetal chromosomal aneuploidy. It has the advantages of noninvasive,high sensitivity and high safety. Early screening for fetal defects has worthy of clinical value.
Objective To explore the clinical value of non-invasive prenatal gene detection in prenatal screening for fetal chromosome aneuploidy. Methods 900 single pregnant women who were tested for noninvasive prenatal gene in our hospital from January 2017 to March 2018 were selected as the subjects. The peripheral venous blood of pregnant women was collected and DNA was free,and the high flux was sequenced. High risk parturients were examined by amniotic cavity or umbilical vein puncture and karyotype detection. Results Among 900 single pregnant women,11 cases were detected with high risk by testing peripheral blood,and the positive rate was 1. 22%. Among them,7 cases were 21-trisomy syndrome,1 case was 13-trisomy syndrome,and 3 cases were18-trisomy syndrome. The chromosomal karyotype analysis of 11 high-risk pregnant women screened by noninvasive prenatal gene detection showed that the coincidence rate of noninvasive prenatal gene detection and chromosome karyotype analysis was 100%. High risk pregnant women had the followingindicators of noninvasive detection: elder age,NT thickening,Down syndrome. The karyotype of 21-trisomy syndrome was(47,XN, + 21),the chromosome karyotype of 13-trisomy syndrome was(47,XXX),the karyotype of 18-trisomy syndrome was(47,XN, + 18). All of the pregnant women with high risk terminated pregnancy. Conclusion Noninvasive prenatal gene detection has higher diagnostic accuracy for fetal chromosomal aneuploidy. It has the advantages of noninvasive,high sensitivity and high safety. Early screening for fetal defects has worthy of clinical value.
引文
[1]王传霞,顾茂胜.母血浆中游离胎儿DNA检测在染色体非整倍体筛查中的应用[J].航空航天医学杂志,2014,25(02):210-211.
[2]梅瑾,王小华,王昊,等.无创产前基因检测在胎儿染色体非整倍体筛查中的应用[J].中国预防医学杂志,2014,15(03):238-240.
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[6]哈迎春,冯佳,王婧,等.无创DNA产前检测在胎儿染色体非整倍体疾病中的应用[J].宁夏医科大学学报,2016,38(10):1197-1199.
[7]殷一旋,梅瑾,王昊.无创产前基因检测技术在胎儿性染色体非整倍体检测中的临床应用[J].中国优生与遗传杂志,2017,25(02):24-25,40.
[8]冀荔,刘淑敏.西宁地区无创DNA检测在胎儿染色体非整倍体检查中的应用[J].青海医药杂志,2016,46(11):51-54.
[9]丁娟,彭艳,丁桂凤.孕妇血浆游离胎儿DNA检测在产前筛查中的临床应用[J].新疆医学,2017,47(01):71-72,75.
[10]江矞颖,王俊育,王元白,等.泉州市3851例胎儿非整倍体产前无创基因检测结果分析[J].中国妇幼保健,2017,32(07):1525-1526.
[11]鲍幼维,潘婕文,王飞,等.无创DNA检测技术在产前胎儿非整倍体筛查中的应用[J].中国优生与遗传杂志,2017,25(06):38-39,16.
[12]谭振华,王玥莹,廖子慧,等.血清学筛查联合胎儿非整倍体产前无创基因检测的临床价值探讨[J].沈阳医学院学报,2017,19(03):215-217.
[13]加秋萍.无创产前基因检测在胎儿染色体非整倍体产前筛查中的应用价值[J].中国妇幼保健,2017,32(17):4203-4205.
[14]冯颖妍.不同检测方法筛查高危孕妇胎儿染色体非整倍体结果对比及妊娠结局分析[J].实用医技杂志,2017,24(09):950-952.
[15]Devers PL,Cronister A,Ormond KE,et al.Noninvasive prenatal testing/noninvasive prenatal diagnosis:the position of the National Society of Genetic Counselors[J].J Genet Couns,2013,22(3):291-295.
[16]龚明秀,徐明英.探讨无创DNA基因检测技术在胎儿染色体非整倍体疾病的早期诊断和预防中的应用价值[J].药物生物技术,2017(06):521-524.
[2]梅瑾,王小华,王昊,等.无创产前基因检测在胎儿染色体非整倍体筛查中的应用[J].中国预防医学杂志,2014,15(03):238-240.
[3]石晓丽,周丽娟.无创基因检测技术在产前筛查胎儿染色体非整倍体中的应用[J].中国优生与遗传杂志,2015,23(12):11-12.
[4]眭建忠,陈蔚瑜.无创产前基因检测在胎儿非整倍体筛查中的应用[J].中国优生与遗传杂志,2016,24(02):22-24.
[5]Benn P,Chapman AR,Erickson K,et al.Obstetricians and gynecologists'practice and opinions of expanded carrier testing and noninvasive prenatal testing[J].Prenat Diagn,2014,34(2):145-152.
[6]哈迎春,冯佳,王婧,等.无创DNA产前检测在胎儿染色体非整倍体疾病中的应用[J].宁夏医科大学学报,2016,38(10):1197-1199.
[7]殷一旋,梅瑾,王昊.无创产前基因检测技术在胎儿性染色体非整倍体检测中的临床应用[J].中国优生与遗传杂志,2017,25(02):24-25,40.
[8]冀荔,刘淑敏.西宁地区无创DNA检测在胎儿染色体非整倍体检查中的应用[J].青海医药杂志,2016,46(11):51-54.
[9]丁娟,彭艳,丁桂凤.孕妇血浆游离胎儿DNA检测在产前筛查中的临床应用[J].新疆医学,2017,47(01):71-72,75.
[10]江矞颖,王俊育,王元白,等.泉州市3851例胎儿非整倍体产前无创基因检测结果分析[J].中国妇幼保健,2017,32(07):1525-1526.
[11]鲍幼维,潘婕文,王飞,等.无创DNA检测技术在产前胎儿非整倍体筛查中的应用[J].中国优生与遗传杂志,2017,25(06):38-39,16.
[12]谭振华,王玥莹,廖子慧,等.血清学筛查联合胎儿非整倍体产前无创基因检测的临床价值探讨[J].沈阳医学院学报,2017,19(03):215-217.
[13]加秋萍.无创产前基因检测在胎儿染色体非整倍体产前筛查中的应用价值[J].中国妇幼保健,2017,32(17):4203-4205.
[14]冯颖妍.不同检测方法筛查高危孕妇胎儿染色体非整倍体结果对比及妊娠结局分析[J].实用医技杂志,2017,24(09):950-952.
[15]Devers PL,Cronister A,Ormond KE,et al.Noninvasive prenatal testing/noninvasive prenatal diagnosis:the position of the National Society of Genetic Counselors[J].J Genet Couns,2013,22(3):291-295.
[16]龚明秀,徐明英.探讨无创DNA基因检测技术在胎儿染色体非整倍体疾病的早期诊断和预防中的应用价值[J].药物生物技术,2017(06):521-524.