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Journal of Pregnancy
Volume 2014, Article ID 785730, 6 pages
Clinical Study

Influence of Second-Trimester Ultrasound Markers for Down Syndrome in Pregnant Women of Advanced Maternal Age

Department of Obstetrics, Paulista School of Medicine—Federal University of São Paulo (EPM-UNIFESP), Rua Carlos Weber, 956, apto. 113 Visage, Vila Leopoldina, 05303-000 São Paulo, Brazil

Received 24 January 2014; Revised 22 February 2014; Accepted 24 February 2014; Published 25 March 2014

Academic Editor: R. L. Deter

Copyright © 2014 Mariza Rumi Kataguiri et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The objective of the present study was to evaluate the influence of second-trimester ultrasound markers on the incidence of Down syndrome among pregnant women of advanced maternal age. This was a retrospective cohort study on 889 singleton pregnancies between the 14th and 30th weeks, with maternal age ≥ 35 years, which would undergo genetic amniocentesis. The second-trimester ultrasound assessed the following markers: increased nuchal fold thickness, cardiac hyperechogenic focus, mild ventriculomegaly, choroid plexus cysts, uni- or bilateral renal pyelectasis, intestinal hyperechogenicity, single umbilical artery, short femur and humerus length, hand/foot alterations, structural fetal malformation, and congenital heart disease. To investigate differences between the groups with and without markers, nonparametric tests consisting of the chi-square test or Fisher’s exact test were used. Moreover, odds ratios with their respective 95% confidence intervals were calculated. Out of the 889 pregnant women, 131 (17.3%) presented markers and 758 (82.7%) did not present markers on the second-trimester ultrasound. Increased nuchal fold ( ) and structural malformation ( ) were the markers most associated with Down syndrome. The presence of one marker increased the relative risk 10.5-fold, while the presence of two or more markers increased the risk 13.5-fold. The presence of markers on the second-trimester ultrasound, especially thickened nuchal fold and structural malformation, increased the risk of Down syndrome among pregnant women with advanced maternal age.