FISH技术在无创产前筛查染色体异常中的参考价值分析
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摘要
目的分析荧光原位杂交(FISH)技术在产前诊断染色体非整倍体异常中的参考价值。方法选取2018年8-10月于我院接受产前诊断的130位孕妇为研究对象,抽取羊水标本行FISH检测和染色体核型分析,并随访追踪胎儿情况,对比各检测方法的信效度。结果羊水细胞核型分析结果提示120位正常核型胎儿,8位异常核型胎儿;FISH技术检测结果和临床随访结果情况一致,三组检测结果相比,并无显著性差异(P均>0.05);在高龄孕妇、母体唐氏血清筛查高风险、超声筛查异常、多项指证异常和其他因素异常上FISH技术检测和临床随访结果均一致;FISH技术检测、核型分析、联合FISH技术检测和核型分析上存在显著差异(χ~2=4.28,P<0.05)。结论 FISH技术在产前诊断染色体非整倍体异常中的参考价值较高,值得在临床上推广使用
Objective:To analyze the reference value of fluorescence in situ hybridization(FISH)in prenatal diagnosis of chromosome aneuploidy. Methods:130 pregnant women who received prenatal diagnosis in our hospital from August to October in 2018 were selected as subjects. FISH and karyotype analysis were performed on amniotic fluid samples,and the fetus was followed up to compare the reliability and validity of each test method. Results:The karyotype analysis of amniotic fluid showed120 normal karyotype fetuses and 8 abnormal karyotype fetuses. The results of FISH technique were consistent with clinical followup results. There was no significant difference between the three groups(P>0.05). the results of FISH technique detection,karyotype analysis,combined FISH technique in high-risk pregnant women,maternal Down's serum screening high risk,ultrasound screening abnormalities,multiple indication abnormalities and other factors abnormalities were similar;Significant differences were found among the FISH technique detection,karyotype analysis,combined FISH technique and karyotype analysis(χ~2=4.28,P<0.05). Conclusion:FISH technique has a high reference value in prenatal diagnosis of chromosome aneuploidy abnormalities,and it is worthy of clinical use.
Objective:To analyze the reference value of fluorescence in situ hybridization(FISH)in prenatal diagnosis of chromosome aneuploidy. Methods:130 pregnant women who received prenatal diagnosis in our hospital from August to October in 2018 were selected as subjects. FISH and karyotype analysis were performed on amniotic fluid samples,and the fetus was followed up to compare the reliability and validity of each test method. Results:The karyotype analysis of amniotic fluid showed120 normal karyotype fetuses and 8 abnormal karyotype fetuses. The results of FISH technique were consistent with clinical followup results. There was no significant difference between the three groups(P>0.05). the results of FISH technique detection,karyotype analysis,combined FISH technique in high-risk pregnant women,maternal Down's serum screening high risk,ultrasound screening abnormalities,multiple indication abnormalities and other factors abnormalities were similar;Significant differences were found among the FISH technique detection,karyotype analysis,combined FISH technique and karyotype analysis(χ~2=4.28,P<0.05). Conclusion:FISH technique has a high reference value in prenatal diagnosis of chromosome aneuploidy abnormalities,and it is worthy of clinical use.
引文
[1]李屏萍,容林惠.江门市0~2岁儿童残疾早期筛查结果分析[J].护理实践与研究,2018,28(8).
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[13]眭建忠,陈蔚瑜.荧光原位杂交技术在快速产前诊断胎儿染色体非整倍体中的应用[J].上海医学,2015(11):844-846.
[14]Taylor-Phillips S,Freeman K,Geppert J,et al.Accuracy of noninvasive prenatal testing using cell-free DNA for detection of Down,Edwards and Patau syndromes:a systematic review and meta-analysis[J].BMJ Open,2016,6(1):e010002.
[15]Hamidah N H,Munirah A R,Hafiza A,et al.Prenatal diagnosis of aneuploidies in amniotic fluid by multiple ligation-dependent probe amplification(MLPA)analysis.[J].Malays J Pathol,2014,36(3):163-168.
[16]Hyeon P J,Hoon W J,Han S S,et al.Application of a target array Comparative Genomic Hybridization to prenatal diagnosis[J].Bmc Medical Genetics,2010,11(1):102-102.
[17]曹娴,蒋鸿儒,孔祥天,et al.荧光原位杂交技术在流产胚胎染色体检查与产前诊断中应用价值研究[J].临床军医杂志,2017,45(11):1184-1185.
[18]Papoulidis I,Sotiriadis A,Siomou E,et al.Routine use of array comparative genomic hybridization(aCGH)as standard approach for prenatal diagnosis of chromosomal abnormalities.Clinical experience of 1763 prenatal cases[J].Prenatal Diagnosis,2015,35(13):1269-1277.
[19]刘柯伶,贾蓓,汪丽萍,et al.应用荧光原位杂交产前诊断染色体异常的临床价值[J].实用妇产科杂志,2010,26(1):36-39.
[20]Abunimer A N,Noursi D P,Abuasab M S,et al.A Systems Biology Interpretation of Array Comparative Genomic Hybridization(aCGH)Data through Phylogenetics[J].Omics AJournal of Integrative Biology,2016,20(3):169-184.
[21]Alberry M,Hassan W A,Goodburn S,et al.The impact of national guidance for anomaly screening and invasive testing:unintended consequences.[J].Archives of Disease in Childhood Fetal&Neonatal Edition,2014,99(1):83-96.
[2]何法霖,陶炯,王薇,等.全国45家实验室早孕期母血清产前筛查调查[J].检验医学,2016,31(6):533-537.
[3]赵旭亮,张曼,贾建安.荧光原位杂交技术在产前诊断的应用价值[J].中国优生与遗传杂志,2018,15(4):23-26.
[4]Grati F R,Bajaj K,Zanatta V,et al.Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies[J].Prenat Diagn,2017,37(10):14-27.
[5]潘小平,赖金国,许伟华,et al.荧光原位杂交法(FISH)快速检测胎儿染色体异常及临床应用评价[J].现代检验医学杂志,2012,27(2):60-62.
[6]Brison N,Neofytou M,Dehaspe L,et al.Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing[J].Prenatal Diagnosis,2018,19(4):15-28.
[7]荧光原位杂交技术在产前诊断中的应用价值[J].中国实用妇科与产科杂志,2013,9(3):197-199.
[8]王华先.荧光原位杂交技术及染色体核型分析在产前诊断中的应用价值[J].中国实用医药,2015,9(12):93-95.
[9]Caine A,Maltby A E,Parkin C A,et al.Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes13,18,and 21 by FISH or PCR without a full karyotype:a cytogenetic risk assessment.[J].Lancet,2005,366(9480):123-128.
[10]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].Prenatal Diagnosis,2012,98(3):28-49.
[11]Sandra GarcíaHerrero,Camposgalindo I,JoséAntonio MartínezConejero,et al.BACs-on-Beads technology:a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.[J].Biomed Res Int,2014,2014(13):590298.
[12]张利平,剡红民,秦翠云,等.荧光原位杂交技术在1459例羊水产前诊断中的应用研究[J].中国妇幼健康研究,2013,24(1):11-13.
[13]眭建忠,陈蔚瑜.荧光原位杂交技术在快速产前诊断胎儿染色体非整倍体中的应用[J].上海医学,2015(11):844-846.
[14]Taylor-Phillips S,Freeman K,Geppert J,et al.Accuracy of noninvasive prenatal testing using cell-free DNA for detection of Down,Edwards and Patau syndromes:a systematic review and meta-analysis[J].BMJ Open,2016,6(1):e010002.
[15]Hamidah N H,Munirah A R,Hafiza A,et al.Prenatal diagnosis of aneuploidies in amniotic fluid by multiple ligation-dependent probe amplification(MLPA)analysis.[J].Malays J Pathol,2014,36(3):163-168.
[16]Hyeon P J,Hoon W J,Han S S,et al.Application of a target array Comparative Genomic Hybridization to prenatal diagnosis[J].Bmc Medical Genetics,2010,11(1):102-102.
[17]曹娴,蒋鸿儒,孔祥天,et al.荧光原位杂交技术在流产胚胎染色体检查与产前诊断中应用价值研究[J].临床军医杂志,2017,45(11):1184-1185.
[18]Papoulidis I,Sotiriadis A,Siomou E,et al.Routine use of array comparative genomic hybridization(aCGH)as standard approach for prenatal diagnosis of chromosomal abnormalities.Clinical experience of 1763 prenatal cases[J].Prenatal Diagnosis,2015,35(13):1269-1277.
[19]刘柯伶,贾蓓,汪丽萍,et al.应用荧光原位杂交产前诊断染色体异常的临床价值[J].实用妇产科杂志,2010,26(1):36-39.
[20]Abunimer A N,Noursi D P,Abuasab M S,et al.A Systems Biology Interpretation of Array Comparative Genomic Hybridization(aCGH)Data through Phylogenetics[J].Omics AJournal of Integrative Biology,2016,20(3):169-184.
[21]Alberry M,Hassan W A,Goodburn S,et al.The impact of national guidance for anomaly screening and invasive testing:unintended consequences.[J].Archives of Disease in Childhood Fetal&Neonatal Edition,2014,99(1):83-96.