A male infant is described, who presented a dilated bowel in an ultrasound exam performed at 17th week gestation.
The mother was referred to the Prenatal Diagnosis Center at Maternidade Bissaya Barreto where the fetal sonography at 23rd weeks confirmed a dilated loop (). Investigation procedures were taken, infections like cytomegalovirus and other were excluded and amniocentesis was performed. Fetal chromosome analysis revealed 46,XY and CF mutation analysis identified a ΔF508del in an homozygous form. After being informed of diagnosis and prognosis, the couple decided to proceed with the pregnancy. ΔF508del mutation, in heterozygous form, was found in both progenitors. There was no consanguinity and family history was unremarkable in what concerns to CF. The couple oldest son was an healthy 7-year boy. Monthly fetal scans revealed progressive severe bowel enlargement with multiple loops involved and polyhydramnios (). No other sonographic abnormalities where found.
Ultrasound scan at 23rd week gestation, showing dilated loop of bowel (8.2 mm).
Ultrasound scan at 37th week gestation with multiple dilated bowel loops (26 mm) and polyhydramnios.
A vaginal delivery, with vacuum extraction, was taken at 38 weeks gestation The newborn weight was 3660 g and Apgar scores were 9 and 10 at 1 and 5 min.
He showed abdominal distension, with poor gastric content, and a permeable rectum and was admitted to Neonatal Intensive Care Unit with a nasogastric tube. Worsening of abdominal distension was apparent in the first hours and he passed no stools even after stimulation.
At 12th hour of life he was transferred to a surgical neonatal unit for surgery evaluation. Acetyllcisteine and gastrografin enemas were ineffective (). Laparotomy was then performed and total occlusion of the lower part of the ileum with viscid meconium and microcolon were found (). Resection of 8 cm of ileum and an ileostomy was performed.
Gastrografin enema performed at 3rd day of life: microcolon and no contrast progression over hepatic flexure.
Surgery performed at 3rd day of life: (A) extremely dilated small-bowel loops, total occlusion of terminal ileum (arrow) with meconium; (B) viscid meconium found at terminal ileum.
At 6th day of life there was worsening of abdominal distention and a new gastrografin enema trough ileostomy was performed. Large quantities of meconium material were eliminated. He started oral feeding at 11th day with good tolerance and was delivered home at 18th day of life.