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荧光定量PCR技术在产前诊断中的应用效果OA

Application of fluorescence quantitative PCR in prenatal diagnosis

中文摘要英文摘要

目的 探讨荧光定量PCR(QF-PCR)技术联合染色体核型分析在产前诊断中的应用效果.方法 选取2022年9月至2023年5月于惠州市第二妇幼保健院产前诊断中心行羊水穿刺检查的388例孕中期孕妇为研究对象,所有入选者均进行染色体核型分析、QF-PCR技术检查.以染色体核型分析为标准,分析QF-PCR技术在产前诊断中的应用价值.结果 388例受检羊水中,QF-PCR检测出其中1例母血污染.388例受检者中QF-PCR共检出17例染色体非整倍体异常,包括21三体异常10例,18三体异常2例,13三体异常1例,性染色体异常4例.与染色体核型分析结果相符,染色体核型分析结构异常13例,QF-PCR技术均未检出.结论 QF-PCR技术能鉴别母血污染以及检查快速,可弥补染色体核型分析时间长的不足;而染色体核型分析可补充QF-PCR技术对其他染色体异常检测的不足,两种方法联合使用可起互补作用,利于减少出生缺陷.

Objective To investigate the effect of quantitative fluorescent PCR(QF-PCR)combined with chromosome karyotype analysis in prenatal diagnosis.Methods A total of 388 pregnant women in the second trimester of pregnancy who underwent amniocentesis at the Prenatal Diagnosis Center,Huizhou Second Maternal and Child Health Hospital from September 2022 to May 2023 were selected as the study objects.Chromosome karyotype analysis and QF-PCR were per-formed on all the enrolled women.Using chromosome karyotype analysis as the standard,the application value of QF-PCR in prenatal diagnosis was analyzed.Results In 388 cases of amniotic fluid,QF-PCR detected one case of maternal blood contamination.Among the 388 subjects,17 cases of chromosome aneuploidy were detected by QF-PCR,including 10 cases of trisomy 21,2 cases of trisomy 18,1 case of trisomy 13,and 4 cases of sex chromosome abnormality.It was consistent with the results of chromosome karyotype analysis.Chromosome karyotype analysis of 13 cases of structural abnormalities,QF-PCR technology did not detect.Conclusion QF-PCR can identify maternal blood contamination and detect it quickly,which can make up for the lack of long karyotype analysis time.Chromosome karyotype analysis can supplement the defi-ciency of QF-PCR technology for the detection of other chromosome abnormalities,and the combination of the two methods can play a complementary role,which is conducive to reducing birth defects.

梁罕超;朱素优;曾丽锦;许冠杰;赖其飞

广东省惠州市第二妇幼保健院产前诊断中心,广东惠州 516001

临床医学

非整倍体;荧光定量PCR;染色体核型分析;产前诊断;母血污染

Aneuploid;Quantitative fluorescent PCR;Chromosome karyotype analysis;Prenatal diagnosis;Maternal blood contamination

《中国当代医药》 2024 (001)

59-63 / 5

广东省惠州市科技研发计划(医疗卫生领域自筹经费)项目(2021WC0106098).

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