We report a case of congenital sodium diarrhea. The parents are consanguineous. The mother (G1P0) had a normal first trimester screening. The second scan was also normal. At 32nd week of pregnancy the patient had premature uterine contractions and ultrasound examination revealed major intestinal abnormalities and polyhydramnios. An amniocentesis was performed to find out the karyotype, ionic and enzymatic levels and also for purpose of uterine decompression. The fetus had dilated, fluid filled bowels all the way to the rectum (see pictures) with minimal peristalsis. The bladder never emptied and we noticed a high frequency of micturitions. The patient delivered vaginally at 37th week.
Distended loops of bowels, polyhydramnios