PMID- 24849430 OWN - NLM STAT- MEDLINE DCOM- 20150909 LR - 20181202 IS - 1673-4254 (Print) IS - 1673-4254 (Linking) VI - 34 IP - 5 DP - 2014 May TI - [Detection of fetal chromosomal aneuploidy in pregnant women at advanced maternal age during the first trimester]. PG - 655-8 AB - 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 material plasma cff-DNA allows accurate and early detection of fetal chromosomal aneuploidy in women of advanced maternal ages to avoid unnecessary invasive antenatal examinations. FAU - Wang, Shujuan AU - Wang S AD - Department of Obstetrics and Gynecology, General Hospital of PLA, Beijing 100853, China. E-mail: dch853@126.com. FAU - Gao, Zhiying AU - Gao Z FAU - Lu, Yanping AU - Lu Y FAU - Li, Yali AU - Li Y FAU - Jiang, Shufang AU - Jiang S FAU - Wang, Longxia AU - Wang L FAU - Zhang, Liwen AU - Zhang L LA - chi PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - China TA - Nan Fang Yi Ke Da Xue Xue Bao JT - Nan fang yi ke da xue xue bao = Journal of Southern Medical University JID - 101266132 RN - 9007-49-2 (DNA) SB - IM MH - *Aneuploidy MH - Chromosomes, Human, Pair 18 MH - DNA/blood MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - *Maternal Age MH - Pregnancy MH - *Pregnancy Trimester, First MH - Prenatal Diagnosis MH - Trisomy EDAT- 2014/05/23 06:00 MHDA- 2015/09/10 06:00 CRDT- 2014/05/23 06:00 PHST- 2014/05/23 06:00 [entrez] PHST- 2014/05/23 06:00 [pubmed] PHST- 2015/09/10 06:00 [medline] PST - ppublish SO - Nan Fang Yi Ke Da Xue Xue Bao. 2014 May;34(5):655-8.