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Congenital visceral malformations

Last updated: September 6, 2021

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Congenital visceral malformations develop during organogenesis, which occurs in the first 8 weeks after conception (embryonal period). Common malformations include anal atresia, omphalocele, gastroschisis, and biliary atresia. They may occur on their own or together with other malformations and syndromes. Anal atresia is characterized by an absent anal opening and failure to pass meconium, which may lead to an ileus or the formation of fistulas. An omphalocele is often associated with trisomies and manifests with the herniation of abdominal viscera through the abdominal wall into a hernia sac. In cases of gastroschisis, by contrast, herniated parts of the intestine are not covered by a sac, but exposed. Bladder exstrophy is a rare condition caused by an embryonal malformation resulting in failed closure of the anterior abdominal wall and an exposed urinary bladder. All four conditions are clinical diagnoses and require surgery to prevent infections and further complications. In extrahepatic biliary atresia, the infant presents with prolonged neonatal jaundice, acholic stools, dark urine, and hepatomegaly. Conjugated hyperbilirubinemia and abnormalities on ultrasonography provide valuable clues for diagnosis. If extrahepatic biliary atresia remains undetected or surgery is delayed, the infant may die within the first two years of life, usually as a result of biliary liver cirrhosis.

Overview of abdominal wall defects
Omphalocele Gastroschisis Umbilical hernia
Description
Pathophysiology
  • Failed spontaneous closure of the umbilical ring following physiological herniation of the midgut → patent umbilical orifice
Anatomy
  • Protrusion of intestinal content usually on the right side of the umbilicus
  • The intestine is not contained in a hernia sac.
Associated conditions
  • Additional anomalies are rarely present.
Diagnostics
  • Clinical diagnosis
  • Usually no further diagnostics necessary
Delivery
  • Usually vaginal delivery
  • Vaginal delivery
Management
  • Wrapping of the hernia sac/free intestines with sterile saline dressings covered with plastic wrap
  • Nasogastric suction
  • IV fluids
  • Conservative: closes spontaneously by the age of 5 years
Surgery
  • Within the first 24 hours of life
  • Emergency surgery
  • Rarely necessary

Unlike in cases of omphalocele, gastroschisis does not manifest with a hernia sac.

Omphalocele keeps your gut O-sealed (covered with peritoneum), but in Gastroschisis, the Gut freezes (herniates through the abdominal wall without being covered by peritoneum).

Bladder exstrophy

Biliary atresia

Alagille syndrome

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