Neonatology - Gastroschisis

Question 1

Definition

Answer 1

A paraumbilical, full-thickness abdominal wall defect associated with protrusion of the bowel through the defect

Question 2

Epidemiology

Answer 2

Higher incidence in Hispanic,
Singleton pregnancies,
Younger women less than 20 years of age

Question 3

Aetiology

Answer 3

Unknown

Question 4

Pathophysiology

Answer 4

A congenital defect in the development of the abdominal wall during foetal gestation.

In a developing foetus, the abdominal wall forms in the early stages of pregnancy.
In gastroschisis = there is a failure in the normal development of the abdominal wall, specifically in the region near the umbilical cord. This failure leads to a gap or hole in the abdominal wall, typically to the right side of the umbilical cord insertion, (occasionally occur on the left side).
As a result of this defect, the intestines and sometimes other abdominal organs (such as the stomach and liver) herniate or protrude through the gap in the abdominal wall. Unlike another congenital condition called omphalocele, in which the organs are covered by a protective sac, in gastroschisis, the organs are exposed directly to the amniotic fluid. The exposed organs are in direct contact with the amniotic fluid for the remainder of the pregnancy. This prolonged contact with amniotic fluid can sometimes lead to damage or inflammation of the exposed intestines.

Question 5

Signs and symptoms

Answer 5

?

Question 6

Investigations

Answer 6

Diagnosed of a prenatal ultrasound performed at approximately 20 weeks gestation
In the presence gastroschisis, serum alpha-fetoprotein (AFP) level is elevated

Question 7

Treatment

Answer 7

Infants with gastroschisis should be monitoring for foetal growth. Growth restriction
can be seen in up to 60% of cases.
● A sterile, warm, and moist covering is placed over the exposed organs to prevent
further damage and dehydration. This covering may be a sterile plastic or a specialized silo bag.
● Surgery to repair the abdominal wall defect is typically performed shortly after birth, often within the first few hours to days of life.

Question 8

Complications

Answer 8

Infections,
Necrosis,
Intestinal obstruction,
Short bowel syndrome,
Feeding difficulties,
Hernias

Question 9

Risk factors

Answer 9

Smoking and maternal infections during pregnancy, maternal age <20 years,
male sex of neonate