基因组拷贝数变异测序技术在产前诊断中的临床应用

Clinical application of genome copy number variation sequencing technology in prenatal diagnosis

目的探讨基因组拷贝数变异测序技术(CNV-seq)在产前诊断中的应用价值。方法选取392例具有产前诊断指低且行经腹羊膜腔穿刺术的孕妇,均行羊水细胞染色体核型分析和CNV-seqo比较两种方法检测结果。结果392例孕妇中,染色体核型分析结果:羊水培养失败3例,共成功检测389例(389/392,99.2%),检出染色体变异9例,染色体数目及结构异常43例,阳性率为11.1%。其中21-三体15例,18-三体5例,13-三体1例,9号三体1例,克氏综合征5例,超雌综合征4例,超雄综合征2例,嵌合体8例,染色体微缺失2例。CNV-seq结果:1例亲缘关系不符,4例母血污染,成功检测387例(387/392,98.7%),检出染色体异常58例,阳性率为15.0%。其中致病性异常55例,可能致病性异常3例。致病性异常中非整倍体33例,嵌合体8例,微缺失12例,微重复2例;可能致病性异常中微缺失2例,微重复1例。结论染色体核型分析和CNV-seq技术在产前诊断中各有优缺点,将其结合可以有效提高羊水细胞染色体异常检出率,能够更科学、合理地指导妊娠,避免先天性缺陷儿的出生。

Objective To explore the value of genome copy number variation sequencing(CNV-seq)in prenatal diagnosis Methods 392 pregnant women who had prenatal diagnosis and underwent trans abdominal amniocentesis were selected for karyotype analysis and CNV-seq.The results of the two methods were compared.Results 392 pregnant women,chromosome karyotype analysis showed that there were 3 cases of amniotic fluid culture failure,389 cases(389/392,99.2%)were successfully detected,9 cases of chromosome variation and 43 cases of chromosome number and structure abnormality were detected,the positive rate was 11.1%.There were 15 cases of trisomy 21,5 cases of trisomy 18,1 case of trisomy 13,1 case of Trisomy 9,5 cases of Kirschner syndrome,4 cases of superfemale syndrome,2 cases of supermale syndrome,8 cases of chimerism and 2 cases of chromosomal microdeletion.CNV-seq results:there was 1 case of inconsistent genetic relationship and 4 cases of maternal blood contamination.387 cases(387/392,98.7%)were successfully detected,and 58 cases(15.0% positive rate)of chromosome abnormality were detected.There were 55 cases of abnormal pathogenicity and 3 cases of possible abnormal pathogenicity.There were 33 cases of pathogenic abnormal aneuploidy,8 cases of chimera,12 cases of microdeletion and 2 cases of microduplication.There were 2 cases of microdeletion and 1 case of microduplication.Conclusion Chromosome karyotype analysis and CNV-seq technology have their own advantages and disadvantages in prenatal diagnosis.Combining them can effectively improve the detection rate of chromosome abnonnalities in amniotic fluid cells,guide pregnancy more scientifically and reasonably,and avoid birth of congenital defects.