以下一代测序性基因组拷贝数分析技术的诊断方式对高龄孕妇产前诊断价值的分析

An analysis of the value of sequenced genomic copy number analysis in prenatal diagnosis of elderly pregnant women

目的研究以下一代测序(NGS)性基因组拷贝数分析(CNV-seq)技术的诊断方式对高龄孕妇产前诊断价值。方法纳入从2017年4月~2017年12月,于我院产前诊断中心因高龄接受羊水CNV-seq检测的样本1600例作为研究对象。分析所有羊水样本的CNV-seq检测结果。结果 35~39岁孕妇bCNVs、pCNVs检出率略高于≥40岁孕妇;而非整倍体、致病性染色体异常检出率略低于≥40岁孕妇,但差异无统计学意义(均P>0.05)。18例pCNVs样本中11例为染色体微缺失/微重复综合征,7例为其他pCNVs;变异来源新发、父亲、母亲占比分别为38.89%、11.11%、27.78%。18例pCNVs样本孕妇继续妊娠人数11例,占比61.11%,终止妊娠人数7例,占比38.89%。5例染色体嵌合体样本的CNV-seq检测结果显示均无异常,其中1例样本经QF-PCR以及荧光原位杂交检测提示为三倍体。结论 CNV-seq可作为一种有效染色体拷贝数变异检测方式,且具有分辨率较高、准确性较高以及成本相对低廉的优势,值得临床推广应用。

Objective:To study the diagnostic value of the following generation sequencing(NGS)sex genome copy number analysis(cnv-seq)technique in prenatal diagnosis of elderly pregnant women.Methods:1600 samples of amniotic fluid cnv-seq detected in the prenatal diagnosis center of our hospital due to old age were included from April 2017 to December 2017 as research objects.Cnv-seq test results of all amniotic fluid samples were analyzed.Results:The detection rate of bCNVs and pCNVs in pregnant women aged 35 to 39 was slightly higher than that in pregnant women aged 40 or above.The detection rate of non-euploidy and pathogenic chromosome abnormality was slightly lower than that of pregnant women aged ≥40 years,but the difference was not statistically significant(all P>0.05).Among the 18 cases of pCNVs,11 cases were chromosomal microdeletion/microduplication syndrome,and 7 cases were other pCNVs.The proportion of new sources,fathers and mothers was 38.89%,11.11% and 27.78%,respectively.Among the 18 pCNVs samples,there were 11 cases of continued pregnancy,accounting for 61.11%,and 7 cases of terminated pregnancy,accounting for 38.89%.The cnv-seq test results of 5 chromosome chimeric samples showed no abnormality,and one sample was suggested to be triploid by qf-pcr and fluorescence in situ hybridization.Conclusion:Cnv-seq can be used as an effective method for the detection of chromosome copy number variation.It is worthy of clinical application.