OBJECTIVE To examine the possible association between aneuploidies and fetal lateral cerebral ventriculomegaly in the first trimester of pregnancy. METHODS Three-dimensional brain volumes were acquired by transvaginal ultrasound examination at 11-13 weeks' gestation in 410 euploid fetuses and 63 fetuses with trisomy 21, 34 with trisomy 18 and seven with trisomy 13. Lateral ventricles were ass...

There is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy. Prospective studies in a total of 200,868 pregnancies, including 871 fetuses with trisomy 21, have demonstrated that increased nuchal translucency can identify 76.8% of fetuses with trisomy 21, which represents a false-positive rate of 4.2%. When fetal nu...

OBJECTIVE To determine whether sonographic "markers" are associated with fetal Down syndrome during the second trimester and to estimate the degree of risk of individual markers using likelihood ratios. METHODS Second-trimester (14-20 weeks) sonographic findings in 186 fetuses with trisomy 21 were compared with a control group of 8728 consecutive control fetuses. Six markers were evaluated: n...

Screening for trisomy 21 in twin pregnancies poses a serious clinical, ethical and moral dilemma (Reynolds, 1995), leading some authors to advocate that such screening should be discouraged (Wald et al., 1997). Nevertheless, algorithms have been developed (Wald et al., 1991; Spencer et al., 1994) for biochemical screening in twins during the second trimester which will allow detection of approx...

In a study of 2923 normal pregnancies and 203 pregnancies affected by trisomy 21 we have shown a significant difference in the median MoM of the markers: fetal nuchal translucency, maternal serum free beta-hCG and PAPP-A in the presence of a female fetus compared with a male fetus. For maternal serum free beta-hCG levels are higher by 15% if the fetus is chromosomally normal and by 11% if the f...

OBJECTIVE To determine the likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6-week scan. METHODS Fetal echocardiography was carried out by specialist pediatric cardiologists in 742 singleton pregnancies at 11 to 13 + 6 weeks' gestation and pulsed wave Doppler was used to ascertain the presence or absence of tricuspid regurgitation. To avoid confusion w...

OBJECTIVE To evaluate the prefrontal space ratio (PFSR) in second- and third-trimester euploid fetuses and fetuses with trisomy 21. METHODS This was a retrospective study utilizing stored mid-sagittal two-dimensional images of second- and third-trimester fetal faces that were recorded during prenatal ultrasound examinations at the Department of Prenatal Medicine at the University of Tuebingen...

OBJECTIVE To determine the possible association between single umbilical artery (SUA) at 11-14 weeks of gestation and the incidence of chromosomal abnormalities. METHODS Color flow imaging of the fetal pelvis was used to determine the number of umbilical arteries in 717 fetuses immediately before chorionic villus sampling for karyotyping at 11-14 weeks' gestation. RESULTS Single umbilical a...

OBJECTIVE To compare the maternal serum concentration of placental growth factor-1 (PlGF-1) and PlGF-2 at 11-13 weeks' gestation in normal pregnancies and in those complicated by preeclampsia (PE), delivery of small for gestational age (SGA) neonates and fetal trisomies 21, 18 and 13. METHODS Serum PlGF-1 and PlGF-2 were measured in 270 pathological pregnancies (PE, n = 80; SGA, n = 80; triso...