中国当代医药2024，Vol.31Issue(1)：59-63,5.
荧光定量PCR技术在产前诊断中的应用效果
Application of fluorescence quantitative PCR in prenatal diagnosis
摘要
Abstract
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.关键词
非整倍体/荧光定量PCR/染色体核型分析/产前诊断/母血污染Key words
Aneuploid/Quantitative fluorescent PCR/Chromosome karyotype analysis/Prenatal diagnosis/Maternal blood contamination分类
医药卫生引用本文复制引用
梁罕超,朱素优,曾丽锦,许冠杰,赖其飞..荧光定量PCR技术在产前诊断中的应用效果[J].中国当代医药,2024,31(1):59-63,5.基金项目
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). （医疗卫生领域自筹经费）
