唐氏综合征产前筛查研究进展
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摘要
<正>唐氏综合征又称先天愚型,也叫21-三体综合征,主要表现智力低下。对于唐氏儿目前尚无有效治疗手段,无论国家还是家庭都要为此付出大量人力物力~([1])。为减少先天缺陷儿及染色体病的发生,产前筛查及产前诊断尤为重要。目前,公认的唐氏筛查方法为传统唐筛及无创产前基因检测(noninvasice prenatal testing,NIPT),其中传统唐筛包括结合颈项透明层(nuchal translucency,NT)厚
引文
[1]王佳燕,陈敏,吴莉,等.无创产前基因检测双胎21、18和13-三体综合征的应用研究[J].中国实用妇科与产科杂志,2017,33(5):497-501.
[2]冯广满,詹前柱,蒋旺珍.唐氏综合征血清学在孕早中期产前筛查胎儿染色体异常中的应用[J].中国优生与遗传杂志,2018,26(6):56-58.
[3]曾敏.孕早期血清学联合NT筛查唐氏综合征高风险与不良妊娠结局的关系[D].南昌大学,2018.
[4]陈益明,张闻,王昊,等.中孕期母血清AFP和freeβ-HCG亚基筛查胎儿染色体非整倍体异常的研究[J].中国预防医学杂志,2018,19(1):13-17.
[5]章静,陈军,浦震,等.唐氏综合征血清学产前筛查的研究进展[J].实验与检验医学,2012,30(6):576-579,600.
[6]宋双,李辉.胎儿超声软指标在临床应用中的正确解读[J].中国实用妇科与产科杂志,2013,29(8):627-630.
[7]Agathokleous M,Chaveeva P,Poon LC,et al.Meta-analysis of second-trimester markers for trisomy 21[J].Ultrasound Obstet Gynecol,2013,41(3):247-261.
[8]林如,任芸芸.鼻骨缺失对21-三体胎儿筛查的临床价值[J].中国优生与遗传杂志,2017,25(5):50-52.
[9]刘彦英,陈青,赵晓虹,等.孤立性鼻骨发育异常预测21-三体胎儿[J].中国医学影像技术,2015,31(1):95-97.
[10]夏秋玲,漆洪波.“2018年美国母胎医学会胎儿轻度侧脑室增宽诊断、评估、管理指南”解读[J].中国实用妇科与产科杂志,2018,34(11):1238-1242.
[11]蔡小核,孙素玉,吕杰强.胎儿肾盂扩张的产前诊断与预后分析[J].中国优生与遗传杂志,2015,23(9):89,61.
[12]邓新娥,张红,莫媚媚,等.孤立性单脐动脉胎儿的产前诊断结果及预后分析[J].中国优生与遗传杂志,2017,25(1):87-88.
[13]梁萍,庞丽红,张柳娟.胎儿脉络丛囊肿的产前诊断与临床评估[J].现代妇产科进展,2017,26(3):213-215.
[14]何敏敏,刘芳,吴新华.胎儿肠管回声增强的临床意义[J].现代妇产科进展,2014,23(10):831-833.
[15]李秋玲,查艺葆.超声软指标在产前诊断胎儿染色体异常中的价值[J].中国优生与遗传杂志,2013,21(2):39-40,47.
[16]Reddy UM,Abuhamad AZ,Levine D,et a1.Fetal imaging:executive summary of a joint eunice kennedy shriver national institute of child health and human development,society for maternal-fetal medicine,American Institute of Ultrasound in Medicine,American College of Obstericians and Gynecologists,American College of Radiology,society for pediatric radiology,and society of radiologists in ultrasound fetal imaging workshop[J].Obstet Gynecol,2014,123(5):1070-1082.
[17]徐燕,孟令茜.超声筛查胎儿颜面部畸形及超声软指标异常与染色体异常的关系研究[J].中国全科医学,2018,21(3):350-353.
[18]张颖.无创产前基因检测的临床应用及遗传咨询[J].中国计划生育学杂志,2017,25(12):809-811.
[19]邹朋书,陈莉莎,陈霞慧,等.产前诊断指征和胎儿染色体异常诊断结果的相关性分析[J].中国优生与遗传杂志,2018,26(7):52-54.
[20]Palomaki GE,Deciu C,Kloza EM,et al.DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome:an international collaborative study[J].Genet Med,2012,14(3):296-305.
[21]孟繁杰,罗丽双,于月新,等.无创产前基因检测筛查胎儿性染色体异常[J].中国医科大学学报,2018,47(3):240-243.
[22]彭园园,张艳华,赵丽娟,等.孕妇血浆游离胎儿DNA检测在产前筛查中的临床应用[J].中国产前诊断杂志(电子版),2014,14(3):20,46-48.
[23]Smith M,Lewis KM,Holmes A,et al.A case of false negative NIPT for Down syndrome-lessons learned[J].Case Rep Genet,2014,14:823504.
[24]Jensen TJ,Dzakula Z,Deciu C,et al.Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma[J].Clin Chem,2012,58(7):1148-1151.
[25]Canick JA,Kloza EM,Lambert-Messerlian GM,et al.DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations[J].Prenat Diagn,2012,32(8):730-734.
[26]于文倩,吕远,尹少尉,等.无创产前检测技术在双胎染色体非整倍体疾病筛查中应用研究[J].中国实用妇科与产科杂志,2016,32(10):986-989.
[27]谢晓媛,刘霞,辛力,等.无创DNA检测在双胎唐氏综合征产前筛查中应用价值研究[J].中国实用妇科与产科杂志,2018,34(6):650-653.
[28]曾丹,徐静,江玫玫.无创产前胎儿游离DNA检测的临床应用[J].中国优生与遗传杂志,2018,26(9):55-57.
[29]包歆,陈念念,臧潇潇,等.无创DNA产前检测技术对单项超声软指标孕妇筛查胎儿染色体异常的临床价值[J].中国优生与遗传杂志,2017,25(12):24-25,98.
[30]Bayindir B,Dehaspe L,Brison N,et al.Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management[J].Eur J Hum Genet,2015,23(10):1286-1293.
[31]Beulen L,Faas BHW,Feenstra I,et al.Clinical utility of noninvasive prenatal testing in pregnancies with ultrasound anomalies[J].Ultrasound Obstet Gynecol,2017,49(6):721-728.
[32]Yu B,Lu BY,Zhang B,et al.Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood[J].Med,2017,96(27):e7114.
[33]Li R,Wan J,Zhang Y,et al.Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies[J].Ultrasound Obstet Gynecol,2016,47(1):53-57.
[34]Wapner RJ,Babiarz JE,Levy B,et al.Expanding the scope of noninvasive prenatal testing:detection of fetal microdeletion syndromes[J].Am J Obstet Gynecol,2015,212(3):332.
[35]郭可欣,杨丽,邓涛,等.NIPT用于胎儿染色体微缺失/微重复检测的进展[J].中国优生与遗传杂志,2016,24(10):10-12.
[36]胡芷洋,高雅,郭辉,等.无创产前检测筛查胎儿微缺失微重复综合征阳性病例的临床分析[J].中国产前诊断杂志(电子版),2016,8(1):14-18.(2018-09-14收稿2018-10-24修回)
[2]冯广满,詹前柱,蒋旺珍.唐氏综合征血清学在孕早中期产前筛查胎儿染色体异常中的应用[J].中国优生与遗传杂志,2018,26(6):56-58.
[3]曾敏.孕早期血清学联合NT筛查唐氏综合征高风险与不良妊娠结局的关系[D].南昌大学,2018.
[4]陈益明,张闻,王昊,等.中孕期母血清AFP和freeβ-HCG亚基筛查胎儿染色体非整倍体异常的研究[J].中国预防医学杂志,2018,19(1):13-17.
[5]章静,陈军,浦震,等.唐氏综合征血清学产前筛查的研究进展[J].实验与检验医学,2012,30(6):576-579,600.
[6]宋双,李辉.胎儿超声软指标在临床应用中的正确解读[J].中国实用妇科与产科杂志,2013,29(8):627-630.
[7]Agathokleous M,Chaveeva P,Poon LC,et al.Meta-analysis of second-trimester markers for trisomy 21[J].Ultrasound Obstet Gynecol,2013,41(3):247-261.
[8]林如,任芸芸.鼻骨缺失对21-三体胎儿筛查的临床价值[J].中国优生与遗传杂志,2017,25(5):50-52.
[9]刘彦英,陈青,赵晓虹,等.孤立性鼻骨发育异常预测21-三体胎儿[J].中国医学影像技术,2015,31(1):95-97.
[10]夏秋玲,漆洪波.“2018年美国母胎医学会胎儿轻度侧脑室增宽诊断、评估、管理指南”解读[J].中国实用妇科与产科杂志,2018,34(11):1238-1242.
[11]蔡小核,孙素玉,吕杰强.胎儿肾盂扩张的产前诊断与预后分析[J].中国优生与遗传杂志,2015,23(9):89,61.
[12]邓新娥,张红,莫媚媚,等.孤立性单脐动脉胎儿的产前诊断结果及预后分析[J].中国优生与遗传杂志,2017,25(1):87-88.
[13]梁萍,庞丽红,张柳娟.胎儿脉络丛囊肿的产前诊断与临床评估[J].现代妇产科进展,2017,26(3):213-215.
[14]何敏敏,刘芳,吴新华.胎儿肠管回声增强的临床意义[J].现代妇产科进展,2014,23(10):831-833.
[15]李秋玲,查艺葆.超声软指标在产前诊断胎儿染色体异常中的价值[J].中国优生与遗传杂志,2013,21(2):39-40,47.
[16]Reddy UM,Abuhamad AZ,Levine D,et a1.Fetal imaging:executive summary of a joint eunice kennedy shriver national institute of child health and human development,society for maternal-fetal medicine,American Institute of Ultrasound in Medicine,American College of Obstericians and Gynecologists,American College of Radiology,society for pediatric radiology,and society of radiologists in ultrasound fetal imaging workshop[J].Obstet Gynecol,2014,123(5):1070-1082.
[17]徐燕,孟令茜.超声筛查胎儿颜面部畸形及超声软指标异常与染色体异常的关系研究[J].中国全科医学,2018,21(3):350-353.
[18]张颖.无创产前基因检测的临床应用及遗传咨询[J].中国计划生育学杂志,2017,25(12):809-811.
[19]邹朋书,陈莉莎,陈霞慧,等.产前诊断指征和胎儿染色体异常诊断结果的相关性分析[J].中国优生与遗传杂志,2018,26(7):52-54.
[20]Palomaki GE,Deciu C,Kloza EM,et al.DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome:an international collaborative study[J].Genet Med,2012,14(3):296-305.
[21]孟繁杰,罗丽双,于月新,等.无创产前基因检测筛查胎儿性染色体异常[J].中国医科大学学报,2018,47(3):240-243.
[22]彭园园,张艳华,赵丽娟,等.孕妇血浆游离胎儿DNA检测在产前筛查中的临床应用[J].中国产前诊断杂志(电子版),2014,14(3):20,46-48.
[23]Smith M,Lewis KM,Holmes A,et al.A case of false negative NIPT for Down syndrome-lessons learned[J].Case Rep Genet,2014,14:823504.
[24]Jensen TJ,Dzakula Z,Deciu C,et al.Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma[J].Clin Chem,2012,58(7):1148-1151.
[25]Canick JA,Kloza EM,Lambert-Messerlian GM,et al.DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations[J].Prenat Diagn,2012,32(8):730-734.
[26]于文倩,吕远,尹少尉,等.无创产前检测技术在双胎染色体非整倍体疾病筛查中应用研究[J].中国实用妇科与产科杂志,2016,32(10):986-989.
[27]谢晓媛,刘霞,辛力,等.无创DNA检测在双胎唐氏综合征产前筛查中应用价值研究[J].中国实用妇科与产科杂志,2018,34(6):650-653.
[28]曾丹,徐静,江玫玫.无创产前胎儿游离DNA检测的临床应用[J].中国优生与遗传杂志,2018,26(9):55-57.
[29]包歆,陈念念,臧潇潇,等.无创DNA产前检测技术对单项超声软指标孕妇筛查胎儿染色体异常的临床价值[J].中国优生与遗传杂志,2017,25(12):24-25,98.
[30]Bayindir B,Dehaspe L,Brison N,et al.Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management[J].Eur J Hum Genet,2015,23(10):1286-1293.
[31]Beulen L,Faas BHW,Feenstra I,et al.Clinical utility of noninvasive prenatal testing in pregnancies with ultrasound anomalies[J].Ultrasound Obstet Gynecol,2017,49(6):721-728.
[32]Yu B,Lu BY,Zhang B,et al.Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood[J].Med,2017,96(27):e7114.
[33]Li R,Wan J,Zhang Y,et al.Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies[J].Ultrasound Obstet Gynecol,2016,47(1):53-57.
[34]Wapner RJ,Babiarz JE,Levy B,et al.Expanding the scope of noninvasive prenatal testing:detection of fetal microdeletion syndromes[J].Am J Obstet Gynecol,2015,212(3):332.
[35]郭可欣,杨丽,邓涛,等.NIPT用于胎儿染色体微缺失/微重复检测的进展[J].中国优生与遗传杂志,2016,24(10):10-12.
[36]胡芷洋,高雅,郭辉,等.无创产前检测筛查胎儿微缺失微重复综合征阳性病例的临床分析[J].中国产前诊断杂志(电子版),2016,8(1):14-18.(2018-09-14收稿2018-10-24修回)