摘要
目的探讨羊水染色体核型分析联合基因组拷贝数变异测序(CNV-seq)技术在羊水染色体嵌合体检测中的应用。方法通过常规染色体核型分析和CNV-seq技术对该院3920例羊水标本进行检测,将结果为嵌合体的病例进行回顾性分析。结果(1)3920例羊水标本中,核型分析联合CNV-seq技术共检出嵌合体21例,检出率为0.53%。其中,核型分析检出嵌合体共19例,检出率为0.48%,CNV-seq技术检出嵌合体共12例,检出率为0.33%。(2)血清学筛查高风险标本检出嵌合体10例,无创产前检测结果异常标本检出嵌合体6例,高龄标本检出嵌合体3例,超声结果异常标本检出嵌合体2例。(3)两种检测方法联合检出的嵌合体中,性染色体数目或结构异常占比最高,其次为常染色体数目异常。结论羊水染色体核型分析联合CNV-seq技术检测可提高羊水染色体嵌合体的检出率。
Objective To explore the application of karyotype analysis combined with genome copy number variation sequencing(CNV-seq)techndogy in detection of chimera in amniotic fluid chromosome.Methods Through karyotype analysis and CNV-seq techndogy,3920 amniotic fluid specimens in the hospital were detected at the same time,and the cases with chimera results were retrospectively analyzed.Results Among the 3920 amniotic fluid specimens,21 chimera cases were detected by karyotype analysis combined with CNV-seq techndogy,and the positive rate was 0.53%.Among them,19 chimera cases were detected by karyotype analysis,and the positive rate was 0.53%,while 12 chimera cases were detected by CNV-seq techndogy detection,and the positive rate was 0.33%.A total of 10 chimera cases were detected from pregnant women with high-risk in serological screening.A total of 6 chimera cases were detected from pregnant women with abnormal noninvasive prenatal testing results.A total of 3 chimera cases were detected from pregnant women with advanced age.2 chimera cases were detected from pregnant women with abnormal ultrasound results.In the chimeras detected by the combination of the two methods,abnormal sex chromosome number or structure accounted for the highest proportion.Conclusion The application of karyotype analysis combined with CNV-seq techndogy detection could greatly improve the detection rate of chimera in amniotic fluid.
作者
高明雅
柴玉琼
王亚男
GAO Mingya;CHAI Yuqiong;WANG Yanan(Department of Medical Genetic and Prenatal Diagnosis,Luoyang Maternal and Child Health Hospital,Luoyang,Henan 471000,China)
出处
《检验医学与临床》
CAS
2022年第15期2082-2085,2090,共5页
Laboratory Medicine and Clinic
