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.
Twin reversed arterial perfusion (TRAP sequence) occurs only in the setting of a monochorionic pregnancy and complicates 1 percent of monochorionic twin gestations, with an incidence of 1 in 35,000 births. In the TRAP sequence, the acardiac/acephalic twin receives all of its blood supply from the normal, 'pump twin'. A case of TRAP sequence was diagnosed at 8 weeks of gestation using transvaginal three-dimensional color Doppler ultrasound. Ultrasound imaging showed a monochorionic-monoamniotic twin pregnancy with normal morphology and growth of the first twin. Three-dimensional ultrasound examination showed growth restriction of the second twin, abnormal cephalic pole with acrania, no presence of cardiac activity, and presence of retrograde perfusion in the umbilical artery of the abnormal twin. With the three-dimensional ultrasound images that we presented, we showed that early diagnosis of acardiac twins is possible. Early confirmation of TRAP sequence allows early treatment and better outcome of pregnancy. P09.04 An early diagnosis of trisomy 18 by 2-3-4D at 10th week
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