title: Influence of second-trimester ultrasound markers for Down syndrome in pregnant women of advanced maternal age.
abstract: 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 (P < 0.001) and structural malformation (P < 0.001) 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.
authors.affiliation: 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.
authors.forename: Mariza
authors.initials: M
authors.lastname: Rumi Kataguiri
authors.affiliation: 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.
authors.forename: Edward
authors.identifier: 0000-0002-6145-2532
authors.initials: E
authors.lastname: Araujo Júnior
authors.affiliation: 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.
authors.forename: Luiz Claudio
authors.initials: LC
authors.lastname: Silva Bussamra
authors.affiliation: 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.
authors.forename: Luciano Marcondes Machado
authors.initials: LM
authors.lastname: Nardozza
authors.affiliation: 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.
authors.forename: Antonio
authors.initials: A
authors.lastname: Fernandes Moron
mesh_terms: D000328:Adult; D000649:Amniocentesis; D016022:Case-Control Studies; D002831:Choroid Plexus / Q000000981:diagnostic imaging; D015331:Cohort Studies; D003560:Cysts / Q000000981:diagnostic imaging; D004314:Down Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging*; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging; D006849:Hydrocephalus / Q000000981:diagnostic imaging; D008423:Maternal Age; D008875:Middle Aged; D048208:Nuchal Translucency Measurement; D016017:Odds Ratio; D011237:Predictive Value of Tests; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D058536:Pyelectasis / Q000000981:diagnostic imaging; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D058529:Single Umbilical Artery / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal