Fetal Abdominal Wall Defect (Gastroschisis vs Omphalocele)
Look at the cord insertion relationship and presence of a membrane; gastroschisis usually isolated, omphalocele often with chromosomal/anomalies; MRI for associated anomalies and lung volume.
Omphalocele · check chromosomes + associated anomalies: Omphalocele (midline, membranous sac, often contains liver): high risk of chromosomal abnormality (trisomy 13/18/21) and associated anomali…
Step-by-step decision
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Full pathway
- [Decision] Defect-cord relationship + membraneRelationship of the defect to the cord insertion + presence of a membrane? (Key differentiation = relationship to the cord insertion + presence of a covering membrane. Ultrafast fetal MRI confirms + surveys associated anomalies (especially CNS), measures O/E lung volume for a giant omphalocele. Physiologic midgut herniation resolves before 11–12 weeks (do not misdiagnose).)
- Right paraumbilical, free-floating bowel loops, no membrane, raised AFP (gastroschisis) → Gastroschisis · usually isolated
- Midline, cord inserts into a membranous sac, often contains liver (omphalocele) → Omphalocele · check chromosomes + associated anomalies
- Complex (LBWC/cloacal exstrophy/pentalogy of Cantrell/bladder exstrophy) → Complex abdominal wall defect
- [End] Gastroschisis · usually isolatedGastroschisis (right paraumbilical, free-floating bowel without membrane, raised maternal AFP): usually isolated (~10% extra-intestinal anomalies, rare chromosomal abnormality); serial monitoring of bowel dilation/wall thickening (bowel injury) + FGR; deliver at a center with pediatric surgery, postnatal primary/staged (silo) reduction; GI complications (atresia/volvulus) up to 25%.
- [End] Omphalocele · check chromosomes + associated anomaliesOmphalocele (midline, membranous sac, often contains liver): high risk of chromosomal abnormality (trisomy 13/18/21) and associated anomalies → karyotype/microarray + fetal echocardiography + detailed CNS survey; measure O/E lung volume for a giant omphalocele (pulmonary hypoplasia); assess for BWS (macroglossia/hypoglycemia); prognosis follows associated anomalies, deliver at a specialist center.
- [End] Complex abdominal wall defectComplex abdominal wall defect (limb-body wall complex LBWC, cloacal exstrophy OEIS, pentalogy of Cantrell + ectopia cordis, bladder exstrophy): MRI for comprehensive assessment of extent and associated anomalies + karyotype; widely variable prognosis, usually needs multidisciplinary and genetic counselling; LBWC is mostly lethal.
Source guidelines & references
- Fetal abdominal wall defect prenatal imaging differentiation (RadioGraphics; ultrafast fetal MRI)
This pathway is our own synthesis of the decision logic in the guidelines above (not the guideline verbatim); thresholds and workflows change as guidelines update — in practice follow the latest guideline, your institution's protocol and the individual patient.
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