QF-PCR技术检测4262例胎儿常见染色体非整倍体结果回顾分析  

Retrospective analysis of 4262 cases of common chromosome aneuploidy detected by QF-PCR

作　　者：周伟宁[1] 杜倩怡[1] 钟志成[1] 何天文[1] 张艳霞[1] 唐纯芳 Zhou Weining;Du Qianyi;Zhong Zhicheng;He Tianwen;Zhang Yanxia;Tang Chunfang(Guangdong Women and Children Hospital,Guangzhou 511400,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511442 [2]广东省妇幼保健院新生儿外科,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2020年第1期37-42,共6页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的回顾分析荧光定量聚合酶链反应(quantitative fluorescence polymerase chain reaction,QF-PCR)技术对常见染色体(21、18、13、X/Y)非整倍体产前诊断的结果,评价其应用价值。了解不同产前诊断指征诊断为常见染色体非整倍体的阳性率,从而对遗传咨询提供参考依据。方法选取2018年1月至2018年12月在广东省妇幼保健院进行产前诊断的标本4262例,用QF-PCR和染色体核型分析的方法双盲检测,统计QF-PCR的符合率、灵敏度和特异度及不同产前诊断指征诊断为染色体非整倍体的阳性率。结果与金标准染色体核型分析比较,QF-PCR快速诊断常见染色体(21、18、13、X/Y)非整倍体阳性数305例,漏诊4例低比例非整倍体嵌合体,另外有1例21-三体嵌合体QF-PCR阳性,而核型分析阴性,符合率98.8%,灵敏度和特异度分别为85.9%和99.9%,剔除常见5条染色体非整倍体检测范围以外的阳性标本,灵敏度和特异度分别为98.7%和99.9%。不同的产前诊断指征中诊断为常见染色体非整倍体的阳性率:无创产前基因筛查高风险(77.6%);颈项透明层厚度增厚(10.7%);胎儿超声异常(9.0%);唐氏综合征血清学筛查高风险(8.2%);孕妇年龄≥35岁(4.4%);高危妊娠(3.9%);不良孕产史(1.0%)。结论QF-PCR快速诊断常见染色体(21、18、13、X/Y)非整倍体,灵敏度和特异度高,但对低比例嵌合体非常容易漏诊,两种结果不符合时,不能完全依靠染色体核型分析诊断,了解不同产前诊断指征的阳性率,对遗传咨询有一定的指导价值。Objective To assess the application value of quantitative fluorescence polymerase chain reaction(QF-PCR)for rapid prenatal diagnosis of common chromosome(21,18,13,X/Y)aneuploidies;Understand the positive diagnosis rate of chromosome aneuploidy in different prenatal diagnostic indications and provide reference for genetic counseling.Methods 4262 specimens of prenatal diagnosis in our hospital from January to May 2018 were selected and tested by QF-PCR and karyotype analysis.The coincidence rates,sensitivity and specificity of QF-PCR,and the positive rate of aneuploidy in different prenatal diagnostic indications were statistically analyzed.Results Compared with the gold standard karyotype analysis,QF-PCR rapidly diagnosed 305 cases of common aneuploidy(21,18,13,X/Y),4 cases of low-grade aneuploid chimera were missed,and another 21-trisomy chimera was positive for QF-PCR,while the karyotype analysis was negative,the coincidence rate was 98.8%,and the sensitivity and specificity were 85.9%and 99.9%.Excluding positive samples from the common 5 chromosome aneuploidy detection range,the sensitivity and specificity were 98.7%and 99.9%.Different prenatal diagnostic indications have different positive rates of chromosome aneuploidy,Non-invasive Prenatal Testing(77.6%);Nuchal translucency thickening(10.7%);Fetal ultrasound abnormalities(9.0%);Down's screening high risk(8.2%);advanced age(4.4%);high-risk pregnancy(3.9%);poor pregnancy history(1.0%).Conclusion QF-PCR can rapidly diagnose the aneuploidy of common chromosomes(21,18,21,X/Y)with high sensitivity and specificity,but it is easy to miss the diagnosis of chimera.When the two results are not met,the karyotype analysis diagnosis cannot be completely relied on.The positive rate of different clinical diagnosis has certain guiding value for prenatal genetic counseling.

关 键 词：荧光定量聚合酶链反应 产前诊断 非整倍体 嵌合体 

分 类 号：R714.55[医药卫生—妇产科学]