Recurrent Severe Polyhydramnios in Bartter Syndrome: A Case Report

Abstract

Repetitive severe polyhydramnios is a potentially serious obstetric condition which requires detail evaluation. We present a case of a 35-year-old pregnant woman referred due to extreme repetitive polyhydramnios in 19 gestational week. She had history of two missed abortions and premature labor in 23 gestational weeks with extreme polyhydramnios and death. Pat histology report didn’t show any anomaly of the organs and systems of that neonate. The actual pregnancy was conceived with IVF procedure and went uneventful until 19 GW. Combined first trimester screening and the noninvasive prenatal test went with low risk for aneuploidies. Gestational diabetes was excluded. Second trimester morphology scan and TORCH infections were within normal. She was hospitalized in 26 GW as a result of premature contractions, received tocolytic therapy on several occasions. Amnioreduction was performed twice, amniotic fluid for quantitative karyotype was done and came negative for aneuploidies (13,18,21 and sex chromosomes). Consultation with genetics and pediatric nephrologist was made due to suspicion of Bartter syndrome. Amniotic fluid as well as blood from both partners was sent to referent genetic laboratory and the molecular findings were in line with the diagnosis of SLC12A1 associated Bartter syndrome type 1 in the fetus. Corticosteroid therapy for fetal lung maturation was given and delivery was made by caesarean section in 31 gestational weeks. The neonate with weight 1180g, length 30cm, Apgar score 6/6/7, was admitted to neonatal intensive care unit. On the 7th day there was a gradual worsening in the general condition with cardiopulmonary failure and no response to reanimation resulted in neonatal death. Conclusion: Bartter syndrome is an autosomal recessive disease characterized by severe fetal polyuria and extreme polyhydramnios. It can be cause of preterm labor and should be suspected in cases of repetitive polyhydramnios.