Reversed end-diastolic umbilical flow in a first-trimester fetus with congenital heart disease

Reversed end-diastolic umbilical artery velocities and a reduced chorionic sac were first seen at 10 weeks in a pregnancy subsequently showing a normal male karyotype on chorionic villi. Four weeks later Doppler studies demonstrated normal umbilical artery waveforms. At 20 weeks, ultrasound examination of the fetus revealed a mild pericardic effusion, hypoplastic righ heart with hypertrophic myocardium and a single umbilical artery, suggesting pulmonary atresia. After neonatal death, pathological studies confirmed pulmonary atresia. This case suggests that reversed end-diastolic umbilical flow in the first trimester may identify a subgroup of fetuses with a lethal abnormality (heart defect, severe intra-uterine retardation, aneuploidy or others).