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[Pre- and postnatal diagnosis of abdominal wall defects (omphalocele and gastroschisis). Case reports]
Insights
Omphalocele and gastroschisis are abdominal wall defects with different origins. Early intrauterine diagnosis is crucial for managing these conditions, guiding decisions on pregnancy management and interventions.
Area of Science:
- Developmental biology
- Medical genetics
- Neonatal surgery
Background:
- Omphalocele arises from mesodermal malformation during embryogenesis.
- Gastroschisis is believed to result from intrauterine vascular disruption.
Observation:
- A three-year study identified eight cases of abdominal wall defects.
- Four cases were associated with Wiedemann-Beckwith syndrome, one with trisomy 18, two with isolated omphalocele, and one with gastroschisis.
Findings:
- Omphalocele presents with distinct malformation signs.
- The co-occurrence of genetic syndromes highlights the need for comprehensive prenatal evaluation.
Implications:
- Intrauterine diagnosis of chromosomal abnormalities and omphalocele aids in pregnancy management decisions.
- Severe conditions like Edwards syndrome may preclude postpartum surgical intervention, necessitating interdisciplinary consultation.
Abstract:
Whereas the omphalocele develops from a malformation of the mesoderm during the embryonal period, the gastroschisis appears to be the result of an intrauterine vascular occlusion; defined as disruption. Definite signs of malformations are seen in omphalocele. In our patient population observed during a three year period, eight cases of abdominal wall defects were seen, four of which with Wiedemann-Beckwith syndrome and one with trisomy 18, two with an isolated omphalocele and one with a gastroschisis. The concomitance of genetic malformation syndromes implies the necessity of intrauterine diagnosis evaluation. In proven cases of chromosomopathies and signs of omphalocele in ultrasound an interruption of pregnancy may be indicated. Similarly with very unfavourable prognosis such as Edwards syndrome, a post partum operative intervention is not necessary. This decision however can only be reached through interdisciplinary consultation between the pediatrician, pediatric surgeon, midwife and parents.
