Feature	Gastroschisis	Omphalocele	Umbilical Hernia
Location	Paraumbilical (Right)	Midline (Umbilical ring)	Midline (Umbilical ring)
Covering	None (Exposed viscera)	Sac (Peritoneum + Amnion)	Skin
Associations	None (Isolated)	Trisomies (13, 18, 21), Beckwith-Wiedemann	Congenital Hypothyroidism, Down Syndrome
Maternal AFP	Markedly ↑ c	Slightly ↑	Normal
Tx/Outcome	Surgery; Good prognosis	Surgery; Prognosis depends on anomalies	Spontaneous closure (wait until age 2-5)

Tip

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

Mnemonic

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).

Gastroschisis

Diagnosis

• Initial/Screening: Elevated MSAFP (maternal serum alpha-fetoprotein) in the second trimester (typically higher elevation than in omphalocele).
• Prenatal Imaging: Fetal US showing free-floating, herniated bowel loops in the amniotic cavity (“cauliflower” sign). c
• Confirmatory/Postnatal: Visual inspection on PE at birth.
• Key Labs: No routine genetic testing required as association with karyotypic abnormalities is extremely low.

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Congenital Umbilical Hernia

Epidemiology & Risk Factors

• Pathophysiology: Incomplete closure of the umbilical ring (fascial defect).
• Risk Factors:
  • Prematurity and low birth weight (LBW).
  • African American (AA) infants (up to 10x higher incidence).
  • Associated conditions: Down syndrome (Trisomy 21), Beckwith-Wiedemann syndrome, Congenital hypothyroidism, Hurler syndrome.

Clinical Features

• Soft, non-tender, skin-covered protrusion at the umbilicus.
• Protrudes/enlarges with increased intra-abdominal pressure (e.g., crying, coughing, straining).
• Easily reducible through the fascial defect.
• Size ranges from < 1 cm to > 5 cm.

Diagnosis

• Initial & Confirmatory: Clinical diagnosis via physical exam (PE) demonstrating a palpable umbilical fascial defect.
• Imaging (e.g., ultrasound) is not routinely indicated unless incarceration is suspected.

Management

1. Observation & Reassurance (First-line):
   • Most hernias close spontaneously by age 1-2 years due to growth of rectus abdominis muscles. c
   • Reassure parents that taping/strapping (e.g., taping a coin) is ineffective and contraindicated (causes skin irritation/infection).
2. Surgical Repair (Elective):
   • Indicated if the hernia persists beyond age 5 years.
   • Indicated if defect is > 1.5 - 2 cm (unlikely to close spontaneously).
   • Indicated if growing rapidly or causing pain.
3. Emergency Surgical Repair:
   • Indicated immediately if there are signs of incarceration (non-reducible, painful) or strangulation (erythema, warmth, systemic signs).