Recurrent Polyhydramnios: A Rare cause of Neonatal Bartter’s Syndrome Type IVA(BSND Gene Mutation)
Keywords:Hydramnios, Bartter’s Syndrome, Amniocentesis, Karyotype, Chromosomal Microarray, Whole Exome Sequencing
Polyhydramnios occurs in 1-2% of pregnancies. It’s an enigma for treating obstetricians when it occurs in subsequent pregnancies. Causes of hydramnios can be due to maternal diabetes, multiple gestation, placental tumours incompatibility, foetal anomalies, aneuploidies, non-immune hydrops, Idiopathic, unexplained causes which are rare such as West syndrome or Polyuric syndromes like Bartter’s syndrome or genetic syndromes. In this report we discuss a case of 29yrs old fifth gravida, married for 5yrs, 2nd degree consanguineous. Her first pregnancy was a medical termination at 2MA, second was a term spontaneous vaginal delivery, healthy female child born with no complications, third pregnancy was terminated at 29w for acute massive hydramnios in spite of repeated amniocentesis for hydramnios, female child born, succumbed on day 12 of life in view of acute renal failure, cause has not be evaluated for any genetic syndrome. Fourth pregnancy was also a medical termination at 6w for unwanted pregnancy. Present was a fifth pregnancy which was a spontaneous conception, presented to us at 28w with hydramnios ,genetic evaluation done in view of previous adverse neonatal outcome, recurrent hydramnios, she had emergency LSCS, delivered a female baby, Who died at 42 days of life due to renal failure and sepsis. On genetic evaluation done by amniocentesis, only whole exome sequencing showed rare disorder of Bartter’s syndrome, one of the causes of hydramnios, Where karyotype is 46xx and chromosomal microarray was normal.