南方医科大学学报Issue(5)：655-658,4.DOI:10.3969/j.issn.1673-4254.2014.05.12
高龄孕妇胎儿染色体非整倍体异常的早孕期检测
Detection of fetal chromosomal aneuploidy in pregnant women at advanced maternal age during the first trimester
摘要
Abstract
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.关键词
高龄孕妇/染色体非整倍体异常/早孕期检测/胎儿游离DNA检测Key words
advanced maternal age/chromosomal aneuploidy/early pregnancy/cell-free fetal DNA引用本文复制引用
汪淑娟,高志英,卢彦平,李亚里,姜淑芳,汪龙霞,张立文..高龄孕妇胎儿染色体非整倍体异常的早孕期检测[J].南方医科大学学报,2014,(5):655-658,4.基金项目
国家“十二五”科技支撑计划（2012BA131B06）@@@@Supported by National Science&Technology Pillar Program during the Twelfth Five-year Plan Period (2012BA131B06) （2012BA131B06）
