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Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries
E Calzolari1, S Volpato, F Bianchi
1IMER Istituto di Genetica Medica, Università di Ferrara, Italy.
Insights
This study analyzed 117 omphalocele and 44 gastroschisis cases, finding distinct prevalence rates and risk factors. Omphalocele is linked to trisomies, while gastroschisis affects younger mothers.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Epidemiology
Background:
- Omphalocele and gastroschisis are congenital abdominal wall defects with varying prevalence and outcomes.
- Understanding their distinct epidemiological profiles is crucial for diagnosis and management.
Purpose of the Study:
- To determine the prevalence of omphalocele and gastroschisis in a defined Italian population.
- To compare epidemiological characteristics, associated anomalies, and etiological factors between these two conditions.
Main Methods:
- Retrospective analysis of congenital malformation registry data from 1984-1989.
- Inclusion of cases from live births and spontaneous abortions.
- Statistical comparison of prevalence rates, maternal age, birth weight, and associated anomalies.
Main Results:
- Prevalence rates: 1.6/10,000 for omphalocele and 0.6/10,000 for gastroschisis.
- Omphalocele cases showed association with trisomies 13 and 18, while gastroschisis was linked to younger maternal age.
- Differences in birth weight and small-for-date percentages were observed between isolated gastroschisis, omphalocele, and controls.
Conclusions:
- Omphalocele and gastroschisis represent distinct entities with different epidemiological patterns and potential etiopathologies.
- The study highlights the importance of considering associated anomalies and genetic factors in omphalocele.
- Further research into the specific etiological pathways of both defects is warranted.
Abstract:
During 1984-1989, 116 cases of omphalocele and 42 cases of gastroschisis were detected among 736,760 consecutive births in the area covered by five Italian congenital malformation registries. The prevalence rate was 1.6 per 10,000 for omphalocele and 0.6 per 10,000 for gastroschisis. Three additional cases were detected among spontaneous abortions, giving a total of 117 cases of omphalocele and 44 of gastroschisis. No variations in prevalence rates were observed among registries. A cluster of omphalocele was found in 1989 in Firenze. All cases were sporadic except for one infant with two sibs with Beckwith-Wiedemann syndrome. A predominance of male infants was observed for both defects. This study confirms the very young maternal age for isolated gastroschisis as compared to that for omphalocele and controls. Birth weight and the percentage of small-for-date is different among isolated gastroschisis, omphalocele and controls. Associated anomalies occurred in 45 cases of omphalocele and 11 cases of gastroschisis. Our data confirm the association of omphalocele with trisomies 13 and 18. Twelve cases of omphalocele and gastroschisis with associated limb defects were classified as limb body wall complex. The possible differences in etiopathology between omphalocele and gastroschisis, both isolated and associated, are discussed.