Prenatal Diagnosis of Bartter Syndrome: Lessons From a Complex Diagnostic Procedure

Bartter syndrome is an idiopathic condition that may manifest antenatally, characterized by a spectrum of symptoms including maternal polyhydramnios, prematurity, polyuria, hypercalciuria, nephrocalcinosis, normomagnesemia, vomiting, growth retardation, and elevated renal synthesis and urinary excretion of prostaglandins. Herein, we present a case of a 36-year-old Caucasian woman (Gravida 1, Para 0) diagnosed with extensive hydramnios at the 27th week of gestation. A decision for decompressive amniocentesis was made, and the amniotic fluid was sent for biochemical testing. The biochemical results from the amniotic fluid were compatible with Bartter syndrome, and the sample was further processed for genetic testing. A week later, the hydramnios reoccurred, and a decision for a second decompression amniocentesis was made. Twelve hours following the procedure, premature membrane rupture occurred, and a female fetus weighing 925 g was delivered via an emergency cesarean section for breech presentation. In conclusion, when a case is diagnosed with idiopathic polyhydramnios, investigating underlying genetic or renal syndromes such as Bartter syndrome using comprehensive diagnostic protocols is essential.