摘要
目的 探讨血清学筛查及无创产前筛查联合染色体核型分析,在产前诊断应用中的价值。方法 收集2020年1月至2021年8月因各种高危因素来本院产前诊断中心就诊,进行血清学筛查、高龄孕妇进行无创DNA(NIPT)产前检测,并对检测结果中21-三体、18-三体、13-三体及性染色体高风险者进行染色体拷贝数变异测序(CNV-seq)与染色体核型联合分析,分析比较血清学筛查、NIPT、和CNV-seq与染色体核型分析在产前筛查中的差异。结果 血清学组2294例筛查高风险167例,阳性检出率为7.28%(167/2294),确诊阳性率为3.59%(6/127);NIPT组1342例患者中,阳性检出率2.09%(28/1342),确诊阳性率为42.86%(12/28);CNV-seq与染色体核型分析组(联合组)102例患者中,阳性检出率36.27%(37/102),阳性确诊率为89.19%(33/37)。联合组异常检出率高于血清学组和NIPT组,差异有统计学意义(P<0.05),阳性确诊率极显著高于血清学型和NIPT组,差异有统计学意义(P<0.01)。相对于血清学组,NIPT组的检测准确度更高,差异有统计学意义(P<0.05)。结论 血清学初筛的假阳性率较高,NIPT组假阳性率低于血清组,联合组准确率最高。CNV-seq联合染色体核型分析可以有效提高染色体异常检出率,可弥补无创产前诊断带来的不足,为出生缺陷率的降低提供可靠的依据。
Objective To explore the value of serological screening and non-invasive prenatal screening combined with chromosome karyotype analysis in the application of prenatal diagnosis.Methods From January 2020 to August 2021,the patients which visits to the prenatal diagnosis center of Bijie Maternal and Child Health Hospital due to various high-risk factors were collected for serological screening,non-invasive prenatal testing DNA(NIPT)for elderly pregnant women,and perform chromosome copy number variation sequencing(CNV-seq)combined with chromosome karyotype for the 21-trisomy,18-trisomy,13-trisomy and high-risk sex chromosomes in the test to analyze and compare the differences between serology screening,NIPT,CNV-seq and karyotype analysis.Results In the serology group,the 2294 cases were screened of high-risk 167 cases,the positive rate of diagnosis was 7.28%(167/2294),and the diagnosis positive rate was 3.59%(6/127);Among the 1342 patients in the NIPT group,the positive detection rate was 2.09%(28/1342),the positive rate of diagnosis was 42.86%(12/28);Among 102 patients in the CNV-seq and karyotype analysis group(combined group),the positive rate was 36.27%(37/102),and the positive rate of diagnosis was 89.19%(33/37).The abnormal detection rate of the combined group was higher than that of the serology group and NIPT group,the difference was statistically significant(P<0.05),and the positive diagnosis rate was significantly higher than which of the serology group and NIPT group,the difference was statistically significant(P<0.01).Compared with the serology group,the detection accuracy of the NIPT group was higher,the difference was statistically significant(P<0.05).Conclusion The false positive rate of the initial serological screening is higher.The false positive rate of NIPT group is lower than that of serogroup,and the accuracy rate of combined group is the highest.CNV-seq combined with chromosome karyotype analysis can effectively increase the detection rate of chromosomal abnormalities,and can make up for the d
作者
钟杰
陈文高
韩德琴
孟玲
申时龙
姚璞
ZHONG Jie;CHEN Wengao;HAN Deqin;MENG Ling;SHEN Shilong;YAO Pu(Department of Medical Laboratory Science,Bijie Maternal and Child Health Hospital,Bijie,Guizhou 551700,China;Department of Women's Health,Bijie Maternal and Child Health Hospital,Bijie,Guizhou 551700,China)
出处
《国际检验医学杂志》
CAS
2022年第S01期21-25,共5页
International Journal of Laboratory Medicine
基金
贵州省科技计划项目(黔科合成果-LC【2021】029)。
