摘要
目的：评价孕妇血浆胎儿游离DNA检测对高龄孕妇胎儿染色体非整倍体异常的早孕期检测价值。方法自2011年3月1日~2013年8月31日，采用早孕期超声筛查和孕妇血浆胎儿游离DNA检测技术，对136例孕11-13＋6周的高龄孕妇进行检测，并通过染色体核型分析、荧光染色体原位杂交进行结果验证。结果cff-DNA检测，检出3例21-三体，1例18-三体（同时存在NT增厚），1例45，X（超声提示胎儿全身水肿），与荧光染色体杂交的结果一致，分别为47，XN，＋21、47，XN，＋18、45，X；筛查阴性者，未发现染色体异常。结论在早孕期开展cff-DNA检测，能更早期、更准确的检出高危对象进行确诊、干预，并能显著降低不必要的介入性产前诊断。
Objective To investigate the value of maternal plasma cell-free fetal DNA （cff-DNA） examination in detection of fetal chromosomal aneuploidy in pregnant women at advanced maternal ages during the first trimester of pregnancy. Methods A total of 136 pregnant women （11 to 13＋6 gestational weeks） with advanced maternal ages were screened for fetal chromosomal aneuploidy with ultrasound and maternal plasma cff-DNA examination during March 1, 2011 to August 31, 2013, and the results were then confirmed by karyotype analysis and fluorescence in situ hybridization （FISH）. Results Of the 136 women examined, cff-DNA screening detected chromosomal aneuploidy in 5 cases, including trisome-21 in 3 cases, trisome-18 in 1 case, and 45,X in 1 case as confirmed subsequently by karyotype analysis. Ultrasound screening reported a normal finding in one case of trisomy-21, thickening of the NT in the case of trisomy-18, and fetal anasarca in the case of 45,X. Karyotype analysis and follow-up of the women did not find chromosomal abnormality in the 131 negative cases screened by cff-DNA detection. Conclusion Screening of materal plasma cff-DNA allows accurate and early detection of fetal chromosomal aneuploidy in women of advanced maternal ages to avoid unnecessary invasive antenatal examinations.
出处
《南方医科大学学报》
CAS
CSCD
北大核心
2014年第5期655-658,共4页
Journal of Southern Medical University
基金
国家"十二五"科技支撑计划(2012BA131B06)~~
