应用QF-PCR和CNV-seq以及染色体核型分析检测羊水的染色体畸变及结果分析

目的评价定量荧光PCR(QF-PCR)在染色体畸变中诊断的准确性,探讨QF-PCR、基因组拷贝数变异测序(CNV-seq)和染色体核型分析(核型分析)这3种技术在染色体畸变的产前诊断中的应用价值以及多方法联合诊断的优势和必要性。方法采用QF-PCR检测106例产前筛查高风险孕妇的产前羊水的染色体畸变,同时使用CNV-seq(102例)及核型分析(4例)检测;统计QF-PCR与后两者之间的阳性符合率。结果在21、18、13、X、Y共5种染色体非整倍体检测方面,QF-PCR与CNV-seq及核型分析的阳性符合率均为100%。对于所有46条染色体畸变的检测,CNV-seq阳性但QF-PCR无法检出的共21例,其中20例微缺失或微重复均小于5 Mb,核型分析可能均无法检出。结论QF-PCR对5种染色体非整倍体的检测具有很高的准确性。QF-PCR结合CNV-seq,相互补充和印证,快速且覆盖面广,具有部分替代核型分析的潜力;多方法联合诊断对染色体畸变的检出具有很大的优势和必要性。

Using QF-PCR,CNV-seq and karyotype analysis to detect chromosomal aberrations in 106 amniotic fluids and comparing the results

Objectives To evaluate the accuracy of quantitative fluorescence PCR(QF⁃PCR)in chromosomal aberrations.To discuss the application value of the three methods(QF⁃PCR,genomic copy number variation sequencing,and karyotype analysis)in prenatal diagnosis of chromosomal aberrations.To explore the advantages and necessity of multi⁃method joint diagnosis.Methods QF⁃PCR was used to detect the chromosomal aberrations of prenatal amniotic fluid samples from 106 prenatal screening high⁃risk pregnant women.CNV⁃seq(102 cases)and karyotype analysis techniques(4 cases)were used at the same time.Calculate the positive coincidence rate between the QF⁃PCR and the latter two.Results In the detection of aneuploidy of 5 chromosomes(21,18,13,X,and Y),compared with CNV⁃seq and karyotype analysis,the positive coincidence rate of QF⁃PCR was 100%.For the detection of distortions in all 46 chromosomes,21 cases were positive for CNV⁃seq but not detectable by QF⁃PCR.Among them,20 cases of microdeletions or microduplications were less than 5 Mb,and may not be detectable by karyotype analysis.Conclusion QF⁃PCR has high accuracy for the detection of five chromosome aneuploidies.QF⁃PCR combined with CNV⁃seq,complement and confirmed with each other,rapid and broad coverage,and has the potential to replace karyotype analysis partially.Multi⁃method joint diagnosis has great advantages and necessity for the detection of chromosomal aberrations.