无创产前检测阳性患者的验证及临床意义  

Non-invasive prenatal testing for aneuploidy: confirmation and clinical significance

作　　者：刘学军[1] 刘慈[1] 马良[1] 刘芸兰 师园园 LIU Xue-jun;LIU Ci;MA Liang;LIU Yun-lan;SHI Yuan-yuan.(The Second Hospital of Hebei Medical University, Shijiazhuang Hebei 050000, Chin)

机构地区：[1]河北医科大学第二医院妇产超声诊疗科遗传室,石家庄050000

出　　处：《中国优生与遗传杂志》2018年第4期45-47,54,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨无创产前检测(NIPT)在产前筛查与诊断中的应用价值。方法对114例NIPT提示阳性的孕妇行羊膜腔穿刺术,羊水细胞培养及染色体核型分析,其中3例NIPT提示可疑常染色体结构异常者同时行染色体拷贝数变异检测(CNV-seq)。结果 NIPT提示21三体高风险的符合率84.21%(48/57),18三体高风险的符合率50.00%(8/16),13三体高风险的符合率12.50%(1/8),性染色体异常的符合率60.00%(15/25),其他常染色体数目异常的符合率0(0/5),3例可疑结构异常者均经染色体核型分析和CNV-seq证实。结论 NIPT并非诊断性检测方法,即使阳性结果符合率最高的21三体也远未达到100%,其阳性结果需通过染色体核型分析和/或CNVs检测等确诊。Objecive：To investigate the clinical application value of NIPT in prenatal diagnosis. Methods：Amniotic fluid amniocentesis and karyotype analysis were sampled from 103 pregnant women whose NIPT results were abnormal. Karyotype analysis and CNV sequencing were done on three samples. Results：Trisomy 21 was detected in 44 of 52 cases（84.61%）,Trisomy 18 was detected in 8 of 15 cases（53.33%）,Trisomy 13 was detected in 1 of 6 cases,sex chromosome aneuploidies was detected in 14 of 24 cases. 3 cases whose NIPT results were structural abnormality were confirmed by Karyotype analysis and CNV sequencing. Conclusion：The results of NIPT should be confirmed by karyotype analysis and CNV sequencing.

关 键 词：核型分析 拷贝数变异 无创产前检测 

分 类 号：R714.55[医药卫生—妇产科学]