无创产前检测技术筛查染色体非整倍体疾病中的参考价值分析
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摘要
目的分析无创产前检测技术在筛查染色体非整倍体疾病中的参考价值。方法选取2015年7月至2018年7月于我院行产前检查的高危孕妇为研究对象,行无创产前基因检测技术产前筛查,对筛查结果为高风险的孕妇,进一步行核型分析,对比分析无创产前基因检测技术的诊断准确率。结果共纳入8626位高危孕妇,无创产前基因检测技术提示54例21-三体综合征,8例18-三体综合征,7例13-三体综合征,22例性染色体异常,22例其他染色体异常,其检测21-三体综合征、18-三体综合征、13-三体综合征和性染色体的准确率分别为96.30%、100%、100%和90.91%,整体的检测准确率为95.06%。结论无创产前检测技术在筛查染色体非整倍体疾病中具有较好的参考价值,有待进一步发展在临床推广使用。
Objective:To analyze the reference value of noninvasive prenatal testing techniques in screening for aneuploidy in chromosomes. Methods:High-risk pregnant women who underwent prenatal examination in our hospital from July 2015 to July2018 were selected as subjects. Non-invasive prenatal genetic testing techniques were used for prenatal screening. Pregnant women with high risk were further analyzed with Karyotype analysis,then we analyzed the diagnostic accuracy of non-invasive prenatal genetic testing technology. Results:A total of 8626 high-risk pregnant women were included. Non-invasive prenatal genetic testing techniques indicated 54 cases of 21-trisomy syndrome,8 cases of 18-trisomy syndrome,7 cases of 13-trisomy syndrome,22 cases of sex chromosome abnormalities,and 22 cases of other chromosomal abnormalities,the accuracy of detecting 21-trisomy syndrome,18-trisomy syndrome,13-trisomy syndrome and sex chromosomes were 96.30%,100%,100% and 90.91%,respectively. The general accurate rate of diagnosis is 95.06%. Conclusion:Non-invasive prenatal detection technology has a good reference value in screening for chromosome aneuploidy diseases,and needs further development in clinical promotion.
Objective:To analyze the reference value of noninvasive prenatal testing techniques in screening for aneuploidy in chromosomes. Methods:High-risk pregnant women who underwent prenatal examination in our hospital from July 2015 to July2018 were selected as subjects. Non-invasive prenatal genetic testing techniques were used for prenatal screening. Pregnant women with high risk were further analyzed with Karyotype analysis,then we analyzed the diagnostic accuracy of non-invasive prenatal genetic testing technology. Results:A total of 8626 high-risk pregnant women were included. Non-invasive prenatal genetic testing techniques indicated 54 cases of 21-trisomy syndrome,8 cases of 18-trisomy syndrome,7 cases of 13-trisomy syndrome,22 cases of sex chromosome abnormalities,and 22 cases of other chromosomal abnormalities,the accuracy of detecting 21-trisomy syndrome,18-trisomy syndrome,13-trisomy syndrome and sex chromosomes were 96.30%,100%,100% and 90.91%,respectively. The general accurate rate of diagnosis is 95.06%. Conclusion:Non-invasive prenatal detection technology has a good reference value in screening for chromosome aneuploidy diseases,and needs further development in clinical promotion.
引文
[1]曹长春.儿童常染色体显性遗传性多囊肾病的早期识别及转归[J].中华实用儿科临床杂志,2016,31(5):321-324.
[2]朱帅,安文彬,万扬,等.伴染色体异常的非重型再生障碍性贫血患儿临床及预后分析[J].中华儿科杂志,2016,54(11):814-818.
[3]杨冬梅,庞丽红,李敏清,等.2012-2015年双胎染色体产前诊断127例结果分析[J].重庆医学,2017,13(15):132-133.
[4]陈海婴,李玉.沈阳地区962例孕妇羊水细胞染色体异常产前诊断的分析[J].中国临床新医学,2015,8(2):162-164.
[5]姚宏,徐聚春,胡华,等.产前诊断染色体异常与妊娠结局的临床分析[J].第三军医大学学报,2012,34(2):106-109.
[6]荧光定量PCR技术在产前诊断中的应用协作组.荧光定量PCR技术在产前诊断中的应用专家共识[J].中华妇产科杂志,2016,51(5):321-324.
[7]Vink J,Wapner R,D′Alton M E.Prenatal Diagnosis in Twin Gestations[J].Seminars in Perinatology,2012,36(3):169-174.
[8]曾艳,许平,范佳鸣,等.251例产前B超诊断畸形胎儿的染色体核型分析[J].中华医学遗传学杂志,2017,34(2):14-16.
[9]Steele MW,Jr BW.Chromosome analysis of human amnioticfluid cells[J].Lancet,1974,287(7434):383-385.
[10]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].Prenatal Diagnosis,2014,34(4):335-340.
[11]Chiu R W,Sun H,Akolekar R,et al.Maternal plasma DNAanalysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21.[J].Clinical Chemistry,2010,56(3):459-463.
[12]Zimmermann B,Hill M,Gemelos G,et al.Noninvasive prenatal aneuploidy testing of chromosomes 13,18,21,X,and Y,using targeted sequencing of polymorphic loci[J].Fertility&Sterility,2012,98(3):28-39.
[13]张卉,孙燕萍,吴瑛,等.产前超声筛查异常胎儿105例染色体核型分析[J].中国妇产科临床杂志,2013,14(4):342-344.
[14]陈杏园,韦小妮,陆碧玉,等.5675例产前诊断胎儿细胞染色体核型分析[J].中国优生与遗传杂志,2017,12(11):67-69.
[15]Benn P.Noninvasive Prenatal Testing Using Cell-free DNA in Maternal Circulation[J].Journal of Fetal Medicine,2014,1(3):107-111.
[16]葛建民,孙波,赵卫华,等.无创产前基因检测胎儿染色体非整倍体的临床应用研究[J].中国妇幼保健,2014,29(12):1889-1892.
[17]史晓琳,张志涛,刘彩霞.胎儿染色体非整倍体无创基因检测在孕早期产前筛查的可行性临床应用研究[J].中国优生与遗传杂志,2014,14(3):44-47.
[18]翁慧男,梁嘉颖,曾伟宏,等.无创产前基因测序在胎儿染色体非整倍体基因检测中的临床应用[J].国际检验医学杂志,2015,12(16):2386-2388.
[19]Palomaki G E,Deciu C,Kloza E M,et al.DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome:an international collaborative study[J].Genetics in Medicine,2012,14(3):296-305.
[2]朱帅,安文彬,万扬,等.伴染色体异常的非重型再生障碍性贫血患儿临床及预后分析[J].中华儿科杂志,2016,54(11):814-818.
[3]杨冬梅,庞丽红,李敏清,等.2012-2015年双胎染色体产前诊断127例结果分析[J].重庆医学,2017,13(15):132-133.
[4]陈海婴,李玉.沈阳地区962例孕妇羊水细胞染色体异常产前诊断的分析[J].中国临床新医学,2015,8(2):162-164.
[5]姚宏,徐聚春,胡华,等.产前诊断染色体异常与妊娠结局的临床分析[J].第三军医大学学报,2012,34(2):106-109.
[6]荧光定量PCR技术在产前诊断中的应用协作组.荧光定量PCR技术在产前诊断中的应用专家共识[J].中华妇产科杂志,2016,51(5):321-324.
[7]Vink J,Wapner R,D′Alton M E.Prenatal Diagnosis in Twin Gestations[J].Seminars in Perinatology,2012,36(3):169-174.
[8]曾艳,许平,范佳鸣,等.251例产前B超诊断畸形胎儿的染色体核型分析[J].中华医学遗传学杂志,2017,34(2):14-16.
[9]Steele MW,Jr BW.Chromosome analysis of human amnioticfluid cells[J].Lancet,1974,287(7434):383-385.
[10]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].Prenatal Diagnosis,2014,34(4):335-340.
[11]Chiu R W,Sun H,Akolekar R,et al.Maternal plasma DNAanalysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21.[J].Clinical Chemistry,2010,56(3):459-463.
[12]Zimmermann B,Hill M,Gemelos G,et al.Noninvasive prenatal aneuploidy testing of chromosomes 13,18,21,X,and Y,using targeted sequencing of polymorphic loci[J].Fertility&Sterility,2012,98(3):28-39.
[13]张卉,孙燕萍,吴瑛,等.产前超声筛查异常胎儿105例染色体核型分析[J].中国妇产科临床杂志,2013,14(4):342-344.
[14]陈杏园,韦小妮,陆碧玉,等.5675例产前诊断胎儿细胞染色体核型分析[J].中国优生与遗传杂志,2017,12(11):67-69.
[15]Benn P.Noninvasive Prenatal Testing Using Cell-free DNA in Maternal Circulation[J].Journal of Fetal Medicine,2014,1(3):107-111.
[16]葛建民,孙波,赵卫华,等.无创产前基因检测胎儿染色体非整倍体的临床应用研究[J].中国妇幼保健,2014,29(12):1889-1892.
[17]史晓琳,张志涛,刘彩霞.胎儿染色体非整倍体无创基因检测在孕早期产前筛查的可行性临床应用研究[J].中国优生与遗传杂志,2014,14(3):44-47.
[18]翁慧男,梁嘉颖,曾伟宏,等.无创产前基因测序在胎儿染色体非整倍体基因检测中的临床应用[J].国际检验医学杂志,2015,12(16):2386-2388.
[19]Palomaki G E,Deciu C,Kloza E M,et al.DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome:an international collaborative study[J].Genetics in Medicine,2012,14(3):296-305.