FISH技术在无创产前筛查染色体异常中的参考价值分析  

Analysis on the Reference value of FISH technique in screening non-invasive prenatal screening for chromosomal abnormalities

作　　者：盛晓燕 李伟 SHENG Xiao-yan;LI Wei(Department of Maternity and Nursing,Beilun District Hospital of TraditionalChinese Medicine in Ningbo,Ningbo 315800,China)

机构地区：[1]宁波市北仑区中医院妇保科

出　　处：《中国优生与遗传杂志》2019年第5期531-533,共3页Chinese Journal of Birth Health & Heredity

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 showed 120 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.

关 键 词：荧光原位杂交技术 染色体非整倍体 产前筛查 诊断 

分 类 号：R714.55[医药卫生—妇产科学]