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Gastroschisis and associated defects: an international study
Pierpaolo Mastroiacovo1, Alessandra Lisi, Eduardo E Castilla
1Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy. icbd@icbd.org
American Journal of Medical Genetics. Part A
|March 16, 2007
Summary
Gastroschisis, a birth defect, is isolated in about 90% of cases. Non-isolated gastroschisis involves other congenital anomalies, with chromosomal trisomies linked to older maternal age.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Public Health Surveillance
Background:
- Gastroschisis is a congenital defect involving abdominal wall malformation.
- Understanding associated anomalies is crucial for diagnosis and management.
- International data sharing enhances the study of rare conditions.
Purpose of the Study:
- To determine the frequency and types of malformations associated with gastroschisis.
- To identify patterns of co-occurring anomalies.
- To investigate the influence of maternal age on non-isolated gastroschisis.
Main Methods:
- Utilized case-by-case data from 24 international birth defect registries (ICBDSR).
- Classified gastroschisis cases as isolated, part of a recognizable syndrome, or multiple congenital anomalies (MCA).
- Analyzed the frequency of specific anomaly groups (CNS, cardiovascular, limb, kidney) in MCA cases.
Main Results:
- 14.1% of 3,322 gastroschisis cases were non-isolated, including chromosomal syndromes, other syndromes, and MCA.
- Most frequent MCA groups were CNS (4.5%), cardiovascular (2.5%), limb (2.2%), and kidney (1.9%) anomalies.
- Older maternal age correlated with chromosomal trisomies and possibly non-syndromic MCA.
Conclusions:
- Approximately 10% of gastroschisis cases are associated with major unrelated defects; recognizable syndromes are rare.
- Isolated gastroschisis should be the focus for etiological studies after careful case definition.
- Further research on specific malformation patterns and their genetic underpinnings is warranted.
