Márcio Augusto Pinto de Ávila

Reversed diastolic umbilical artery flow in the first trimester associated with chromosomal fetal abnormalities or cardiac defects

Abstract Background: Six cases have been reported of reversed end-diastolic umbilical artery (UA) blood flow at 10–14 weeks’ gestation. Four were associated with chromosomal anomalies, and one showed congenital heart disease. Cases: This report describes two cases of reversed end-diastolic UA flow at 10 and 12 weeks’ gestation with increased nuchal translucency in which cytogenetic analysis by chorionic villus sampling showed triploidy (69,XXX) and trisomy 9, respectively. In second case, the fetus had a ventricular septal defect. Conclusion: Reversed end-diastolic UA flow in the first trimester might be an important sign of chromosomal abnormalities in early pregnancy and might be a useful signal for the diagnosis of early cardiac defects.

Detection of Functional Changes of the Fetal Heart in the First Trimester of Gestation

The authors consider the possibility of using color Doppler of the ductus venosus and the measurement of nuchal translucency as a screening test for alterations in fetal cardiac functions in the first trimester of gestation. Review of the literature suggests that the combination of the ultrasonographic measurement of nuchal translucency and Doppler at 10 and 14 weeks of gestation can be effective in detecting certain cardiac abnormalities. This conclusion, however, is preliminary and needs to be further investigated.

Fluxo reverso no duto venoso: nova perspectiva na detecção de anomalias cromossômicas

Purpose: to evaluate the possible value of pulsed and color Doppler of ductus venosus blood flow in the screening for chromosomal abnormalities at 10-14 weeks of gestation. Methods: the ductus venosus flow velocity waveforms and the nuchal translucency (NT) thickness were obtained immediately before the chorionic villus sample in 26 pregnancies. We employed the following criteria for the suspicion of chromosomal defects: reverse or absent flow during atrial contraction and NT greater or equal to 3 mm. We calculated the sensitivity, the specificity, the negative and positive predictive value for each of the above items. Results: there were 9 chromosomal abnormalities (3 cases of trisomy 21, 2 cases of trisomy 13, 1 case of trisomy 9, 1 case of trisomy 22, 1 triploidy and 1 monosomy X). Abnormal ductus venosus flow was observed in all cases (sensitivity of 100%). In the normal fetuses (17 cases) only 1 had abnormal flow (specificity of 94%). Concerning NT, the sensitivity and the specificity were 88% and 76%, respectively. Conclusion: our preliminary results suggest that the presence of chromosomal abnormalities may be strongly suspected when an increased NT thickness is associated with an absent or reverse flow in the ductus venosus. We speculated that both methods are valid in the screening of chromosomal defects.