超声联合无创产前DNA检测在孕早期胎儿染色体异常筛查中的研究进展
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摘要
目前妊娠人群构成复杂,如高龄孕妇,体外受精-胚胎移植方式受孕的孕妇,有多次流产史、刮宫史的孕妇,合并子宫疾病的孕妇,有多种合并症(高血压、糖尿病等)的孕妇等,相对于普通孕妇,其对产前筛查与诊断技术的安全性要求更高。本文主要阐述针对这部分人群建立的超声-无创DNA产前检测的无创性筛查方案,该方案在提高了筛查效率的同时能够保证孕妇及胎儿的安全,具有临床应用价值。
引文
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[11]高海侠,刘晓华,岳洁.基于纳米技术从孕妇外周血中分离胎儿有核红细胞并进行无创性产前诊断的可行性[J].广东医学,2017,38(2):280-283.
[12]He ZB,Guo F,Feng C,et al.Fetal nucleated red blood cell analysis for non-invasive prenatal diagnostics using a nanostructure microchip[J].J Mater Chem B,2017,5(2):226-235.
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[14]郭芳芳,杨洁霞,齐一鸣,等.无创产前基因检测在产前筛查异常指标中的应用[J].中华检验医学杂志,2018,41(7):509-513.
[15]Vossaert L,Wang Q,Salman R,et al.Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing[J].Prenat Diagn,2018,38(13):1069-1078.
[16]Lebo RV,Novak RW,Wolfe K,et al.Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative,placental mosaic,and fetal mosaic cfDNA genotypes[J].J Transl Med,2015,13:260.
[17]侯磊,李莉,张涛,等.北京市11 066例产前诊断结果分析[J].中国医刊,2018,53(3):314-317.
[2]Christiansen M,Ekelund CK,Petersen OB,et al.Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort[J].Prenat Diagn,2016,36(1):49-55.
[3]罗欢,蒋敏,张惠芳,等.胎儿外耳畸形筛查最佳超声切面探讨[J].临床超声医学杂志,2015,17(3):169-171.
[4]Pandya PP,Snijders RJ,Johnson S,et al.Natural history of trisomy21 fetuses with increased nuchal translucency thickness[J].Ultrasound Obstet Gynecol,1995,5(6):381-383.
[5]Mavrides E,Sairam S,Hollis B,et al.Screening for aneuploidy in the first trimester by assessment of blood flow in the ductus venosus[J].BJOG,2002,109(9):1015-1019.
[6]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.
[7]高松,蒋刈,戴朴.孕妇外周血中胎儿有核红细胞的分离和富集[J].中国生育健康杂志,2018,29(4):389-391.
[8]Pearson HA.Life-span of the fetal red blood cell[J].J Pediatr,1967,70:166-171.
[9]Hatt L,Brinch M,Singh R,et al.Characterization of fetal cells from the materal circulation by microarray gene expression analysis-could the extravillous trophoblasts be a target for future cell-based non-invasive prenatal diagnosis?[J].Fetal Diagn Ther,2014,35(3):218-227.
[10]Vestergaard EM,Singh R,Schelde P,et al.On the road to replacing invasive testing with cell-based NIPT:five clinical cases with aneuploidies,microduplication,unbalanced structural rearrangement or mosaicism[J].Prenat Diagn,2017,37(11):1120-1124.
[11]高海侠,刘晓华,岳洁.基于纳米技术从孕妇外周血中分离胎儿有核红细胞并进行无创性产前诊断的可行性[J].广东医学,2017,38(2):280-283.
[12]He ZB,Guo F,Feng C,et al.Fetal nucleated red blood cell analysis for non-invasive prenatal diagnostics using a nanostructure microchip[J].J Mater Chem B,2017,5(2):226-235.
[13]李志毅,刘欣燕.流产组织的遗传学检测进展[J].中国计划生育和妇产科,2016,8(2):17-22.
[14]郭芳芳,杨洁霞,齐一鸣,等.无创产前基因检测在产前筛查异常指标中的应用[J].中华检验医学杂志,2018,41(7):509-513.
[15]Vossaert L,Wang Q,Salman R,et al.Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing[J].Prenat Diagn,2018,38(13):1069-1078.
[16]Lebo RV,Novak RW,Wolfe K,et al.Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative,placental mosaic,and fetal mosaic cfDNA genotypes[J].J Transl Med,2015,13:260.
[17]侯磊,李莉,张涛,等.北京市11 066例产前诊断结果分析[J].中国医刊,2018,53(3):314-317.