摘要
目的利用超声及孕妇血浆游离DNA大规模平行测序(MPS)对高龄孕妇进行产前筛查,评价联合两种方法进行无创产前筛查胎儿染色体数目异常的灵敏度、特异度。方法选择≥35岁的高龄孕妇,进行产前超声筛查,并利用MPS方法检测孕妇血浆游离DNA。检测结果通过核型分析和产后随访得到验证。结果本研究共收集有效样本550例,超声联合孕妇血浆游离DNA MPS检测,共发现24例超声异常者,17例MPS异常者,经核型分析确诊14例胎儿染色体数目异常,包括6例T21,5例T18,1例47,XXY,2例Chr X-。联合筛查总检出率达5.8%,较单项筛查检出率增高,灵敏度100%,特异度96.64%,假阳性率3.36%。结论对于高龄孕妇联合超声筛查及孕妇血浆游离DNA MPS检测,可以提高产前筛查检出率,具有较高的灵敏度和特异性,同时还具有较低的假阳性率,联合利用可以提高诊断率。
Objective： Study the sensitivity and specificity of ultrasound and massively parallel sequencing （MPS） of cell- free fetal DNA in maternal plasma to detect the number of fetal chromosomal abnormalities in elder pregnant women. Method： Choose pregnant women more than 35 years old, did prenatal ultrasound screening and detect the cell-free DNA in maternal plasma use massively parallel sequencing. Test results verified by amniocentesis or post-natal follow-up. Results： We collected 550 valid samples, ultrasound combined with massively parallel sequencing of cell-free fetal DNA in maternal plasma had detected 24 cases of ultrasound abnormalities, 17 cases of massively parallel sequencing abnormalities. Finally, verified 14 cases of fetal chromosomal abnormalities by amniocentesis, including 6 cases of T21, 5 cases of T18, 1 case of 47,XXY, 2 cases of ChrX-. Combined the two methods, the total screening detection rate reach to 5.8%, sensitivity of 100%, specificity of 96.64%, false positive rate of 3.36%. Conclusion. For elder pregnant women, combined ultrasound screening and massively parallel sequencing of cell-free fetal DNA in maternal plasma that can improve the detection rate, with high sensitivity and specificity, but also has a very low false positive rate.
出处
《中国优生与遗传杂志》
2015年第5期20-23,F0002,F0003,共6页
Chinese Journal of Birth Health & Heredity
基金
西安交通大学医学院第二附属医院院重大科研方向科研基金(YJ(ZDJH)201303)
关键词
超声
孕妇血浆游离DNA大规模平行测序
无创产前筛查
胎儿染色体数目异常
Ultrasound
Massively parallel sequencing of cell-free fetal DNA in maternal plasma
Noninvasive prenatal screening
Fetal chromosomal abnormalities
