Diagnosis
Common features
Distinguishing features
Gastroschisis
Medial abdominal wall defect with evisceration of abdominal contents
No membrane over abdominal contents
Evisceration usually to the right of umbilical stalk
Higher risk to intestinal viability
Diagnosis impossible before 12 weeks
Omphalocele
Midline abdominal wall defect with herniation of abdominal contents
Amnioperitoneal membrane covers abdominal contents
Umbilical cord inserts into membrane
Associated with other birth defects
Diagnosis possible before 12 weeks if liver herniation present
Bladder or cloacal exstrophy
Extra-abdominal/pelvic sac containing herniated hemibladders, urethra, and possibly kidney and intestine
Defect usually inferior to umbilical stalk
Two hemibladders separated by intestine
Extensive defects associated with omphalocele and epispadias
Prune belly syndrome
Abdominal wall hypoplasia
Abdominal viscera contained within collagenous wall
95 % are in males
Associated with hypoplastic prostate, bilateral undescended testes, infertility, and bladder outlet obstruction
Urachal abnormality
Communication of bladder and anterior abdominal wall, may be associated with cyst or sinus
Communication between bladder and a cystic mass pathognomonic for patent urachus
Often associated with omphalocele and neural tube defects
What Is the Most Likely Diagnosis in This Case?
The most likely diagnosis is gastroschisis in this case. The infant’s mother has several risk factors associated with gastroschisis, including young age, Caucasian race, low body mass index (BMI), singleton pregnancy, and recent tobacco use. Prenatal ultrasound detects gastroschisis in about 70 % of cases. It is effective in distinguishing gastroschisis from omphalocele, and it is useful to evaluate visceral blood flow. In this case, the patient is born with eviscerated bowel and no sac, strongly suggesting a diagnosis of gastroschisis (Fig. 34.1a).
Fig. 34.1
Gastroschisis (a) and omphalocele (b)
History and Physical Examination
Which of the Above Diagnoses Are the Most Common?
Gastroschisis occurs in 1 in 2–10,000 live births, while omphalocele occurs in 1 in 4–5,000 live births. The rest of the conditions are rare, occurring in fewer than 1 in 40,000 live births.
What are the Specific Differences Between Gastroschisis and Omphalocele?
Factor | Gastroschisis (Fig. 34.1a) | Omphalocele (Fig. 34.1b) |
|---|---|---|
Location | Paraumbilical (usually right-side) | Umbilical, epigastric, or hypogastric |
Defect size | Often small (<5 cm) | Variable, often large |
Cord insertion | Normal in umbilicus | Inserts in membrane |
Membrane | Absent | Present (10–20 % rupture) |
Contents | Bowel (gonads, liver, stomach) | Bowel, liver |
Bowel | Matted, dilated, or thickened | Normal |
Malrotation | Often present | Present |
Abdominal cavity | Small | Small |
Maternal AFP level | Elevated (greater than omphalocele) | Elevated |
GI function | Ileus | Normal |
Associated GI anomalies | Intestinal atresia (10–25 %) | Nonspecific, but higher overall risk |
Other associated anomalies | Rare
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