What are Congenital Abnormalities of the Gastrointestinal Tract?

Congenital Abnormalities of the Gastrointestinal Tract
Heterotaxy syndrome, polysplenia syndrome. Fetus at 20 weeks’ gestation. a Fetal coronal single-shot fast spin-echo MR image in which the liver (arrows) and stomach (arrowhead) are centrally located; the multiple spleens present were not seen at MR. b Anatomical specimen showing these anomalies: liver (arrows), stomach (arrowhead). This fetus had heart defects. Fetal MR in the evaluation of pulmonary and digestive system pathology. Martin C, Darnell A, Escofet C, Duran C, Pérez V - Insights into imaging (2012). Not Altered. CC.

Congenital abnormalities of the gastrointestinal tract are abnormalities in the organs that prevent the digestive system from functioning. They could be further classified based on whether the defect is structural or functional.

Congenital abnormalities of the gastrointestinal tract include: 

  • Atresia
  • Diaphragmatic hernia
  • Duplications
  • Ectopia
  • Fistulae
  • Gastroschisis
  • Hirschsprung disease
  • Meckel diverticulum
  • Omphalocele
  • Pyloric stenosis
Abnormalities Etiology Diagnosis Treatment Prognosis
AtresiaNot enough blood flow to the intestinesBlood tests, ultrasound, nuclear scan   Surgery, nasogastric tube Excellent 
Diaphragmatic HerniaGenetic disorder chest x-ray, echocardiogram, blood testsSurgical repair of the herniaFair 
DuplicationsAbnormalities in recanalization, partial twinningCT scan, Ultrasound, MRIExcision, enemas Bad 
EctopiaGenetic defect, intrauterine drug exposure and rupture of fetal membranesUltrasound, MRI Emergency surgery after birthWorst 
FistulaeCrohn’s disease, radiation therapy for cancerCT scan, MRIFistulotomy, reconstructive surgeryFair
GastroschisisVascular accident in early embryonic lifePhysical examination, Prenatal ultrasonographySurgery, nutrients by IV and antibiotics to prevent infectionGood 
Hirschsprung DiseaseMutations in the RET geneRectal biopsy, plain abdominal radiograph, Anal manometrySurgery, IV antibiotics, nasogastric tube insertion and bowel decompression Good 
Meckel DiverticulumIncomplete obliteration of the omphalomesenteric duct Technetium scan, Colonoscopy, Wireless capsule endoscopySurgery, laparoscopic-assisted approachExcellent 
OmphaloceleChange in the genes or chromosomesPrenatal ultrasounds, physical examination of the infantSurgery Good 
Pyloric StenosisUnclear Barium swallow / upper GI series, Abdominal ultrasound, Blood testsIntravenously fluids, pyloromyotomyExcellent