摘要
目的分析产前诊断使用高通量测序全基因组拷贝数变异(NGS-CNVs)检测联合染色体核型分析的诊断价值。方法回顾性分析2017年7月~2018年9月因各种高危因素来本院产前诊断中心就诊并自愿进行NGS-CNVs和染色体核型分析且检测成功产前诊断300例孕妇产检资料,依据分析方式不同分为NGS-CNVs组、染色体核型组、联合使用NGSCNVs和染色体核型分析组。比较3种方式染色体异常检出率的情况。结果 NGS-CNVs组、染色体核型组、联合组染色体异常检出率分别为23.67%、21.33%和25.00%,3组异常检出率差异无统计学意义(P>0.05),NGS-CNVs组染色体数目异常检出率(19.33%),染色体核型组为(19.67%),联合组为(19.67%),仅联合组与染色体核型组之间有统计学意义(P<0.05)。联合组和NGS-CNVs组对结构异常检出率(5.67%和4.33%)高于染色体核型组(1.67%),仅联合组与染色体核型组之间有统计学意义(P<0.05)。NGS-CNVs组检出染色体结构性异常CNVs13例;传统染色体核型分析检出结构异常5例;NGS-CNVs组检测多态性CNVs15例,其中1例染色体核型为Y倒位,属染色体正常变异。结论 NGS-CNVs联合染色体核型分析可以有效提高羊水细胞染色体异常检出率,尤其是检测染色体微缺失和微重复作用显著,能更好降低出生缺陷率。
Objective:To analyze the value of detection of high-throughput sequencing whole genome copy number variations(NGS-CNVs)combined with karyotype analysis in prenatal diagnosis. Methods:The antenatal examination data of 300 pregnant women who were treated in the prenatal diagnosis center of the hospital due to various high-risk factors from July 2017 to September 2018 and voluntarily received successful detection of NGS-CNVs and karyotype analysis were analyzed retrospectively. According to different analysis methods,the patients were divided into NGS-CNVs group,karyotype group and NGS-CNVs combined with karyotype analysis group. The detection rates of chromosomal abnormalities by the three methods were compared. Results:The detection rates of chromosomal abnormalities in the NGS-CNVs group,the karyotype group and the combination group were 23.67%,21.33%,and 25.00%,respectively.There was no significant difference in the detection rates of chromosomal abnormalities among the three groups(P>0.05). The detection rates of abnormal chromosome number in the NGSCNVs group,karyotypes group and combination group were 19.33% 19.67% and 19.67%,respectively. There were significant differences in combination group and karyotypes group. The detection rates of structural abnormality in the combination group and NGS-CNVs group(5.67%,and 4.33%)were significantly higher than that in the karyotype group(1.67%). There were significant differences in combination group and karyotypes group(P<0.05). There were 13 cases with chromosome structural abnormality CNVs detected in NGS-CNVs group and 5 cases detected by conventional karyotype analysis. There were 15 cases with polymorphic CNVs detected in NGS-CNVs group,including 1 cases with Y-inversion karyotype which belonged to normal chromosome variation. Conclusion:NGS-CNVs combined with karyotype analysis can effectively improve the detection rate of amniotic fluid cell karyotype abnormalities,especially chromosomal microdeletion and micro-repetition. It can better reduce the rate of birth defects.
出处
《中国优生与遗传杂志》
2019年第7期802-804,874,共4页
Chinese Journal of Birth Health & Heredity
基金
佛山市卫生和计生局医学科研课题项目(编号:20190301)
关键词
高通量测序
全基因组拷贝数变异
染色体核型分析
产前诊断
High-throughput sequencing
Whole genome copy number variations
Karyotype analysis
Prenatal diagnosis