A rare case of posterior urethral valve and pleural effusion in Down syndrome with successful intrauterine shunt

Posterior urethral valve or pleural effusion accompanied with Down syndrome have been described previously; however, there is no reported case of posterior urethral valve and pleural effusion with Down syndrome. A 45-year-old multigravida woman was transferred due to bilateral fetal hydrothorax, polyhydramnios, and threatened preterm labor at 32 weeks' gestation. Transabdominal ultrasonography revealed additional abnormality, posterior urethral valve. Amniocentesis was repeated due to intense amniotic fluid and patient's dyspnea. Ultrasound-guided thoracoamniotic shunt and vesicoamniotic shunt were done successfully. At 33 weeks' gestation, intrauterine infection was suspected by the laboratory findings of amniotic fluid. A 2.25-kg male baby with characteristic phenotypic findings of Down syndrome was delivered by Cesarean section. Cytogenetic analysis after birth revealed a karyotype of 47,XY,+21. The present case reinforces the notions that fetuses with multiple anomalies, like congenital pleural effusion and posterior urethral valve, are at risk of chromosomal abnormalities, in spite of their low possibilities of association with chromosomal abnormalities.