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A population-based study of abdominal wall defects in South Australia and Western Australia
R Byron-Scott1, E Haan, A Chan
1South Australian Birth Defects Register, Department of Medical Genetics and Epidemiology, Women's and Children's Hospital, North Adelaide.
Insights
This study investigated abdominal wall defects like gastroschisis and exomphalos in South Australia and Western Australia. Exomphalos showed higher prevalence in younger and older mothers, and potentially in South Australia due to prenatal diagnosis differences.
Area of Science:
- Medical Science
- Epidemiology
- Pediatrics
Background:
- Abdominal wall defects (AWDs) such as gastroschisis and exomphalos are significant congenital anomalies.
- Understanding the prevalence and associated factors of AWDs is crucial for public health and clinical management.
- Population-based registries are vital for tracking the epidemiology of birth defects.
Purpose of the Study:
- To determine the prevalence, clinical characteristics, prenatal diagnosis, and co-occurrence of other birth defects in infants with abdominal wall defects.
- To compare the occurrence of gastroschisis and exomphalos between South Australia (SA) and Western Australia (WA) during 1980-1990.
- To investigate the association of maternal age and other factors with these specific abdominal wall defects.
Main Methods:
- Ascertainment of cases of gastroschisis, exomphalos, bladder exstrophy, cloacal exstrophy, and body stalk anomaly from the WA Birth Defects Registry (1980-90) and SA Birth Defects Register (1986-90).
- Analysis of population-based data including livebirths, stillbirths (≥400 g or ≥20 weeks gestation), and terminations of pregnancy for fetal abnormality.
- Statistical analysis to compare prevalence rates between states and to assess associations with maternal age and other clinical factors.
Main Results:
- Prevalence rates: gastroschisis 1.65/10,000 births, exomphalos 2.90/10,000 births.
- No significant difference in prevalence between SA and WA for 1986-90. However, SA showed higher exomphalos prevalence when including earlier WA data (PR 1.71).
- Exomphalos was associated with maternal age <20 years (OR 2.45) and ≥40 years (OR 5.65). Gastroschisis was more common in younger mothers (OR 8.76). Both defects linked to low birthweight, prematurity, IUGR, and C-section.
Conclusions:
- The study highlights varying prevalence and risk factors for gastroschisis and exomphalos.
- Higher exomphalos prevalence in SA compared to WA may be linked to differences in prenatal diagnosis.
- The association of exomphalos with maternal age <20 suggests potential shared etiological factors with gastroschisis.
Abstract:
The purpose of this study was to determine the prevalence, clinical characteristics, prenatal diagnosis and occurrence of other birth defects with abdominal wall defects in births and terminations of pregnancy in South Australia (SA) and Western Australia (WA) over the period 1980-90. Cases of gastroschisis, exomphalos, bladder exstrophy, cloacal exstrophy and body stalk anomaly were ascertained from the WA Birth Defects Registry (1980-90) and the SA Birth Defects Register (1986-90). The registers are comparable population-based data collections with information on livebirths and stillbirths of at least 400 g birthweight or 20 weeks' gestation, and terminations of pregnancy for fetal abnormality. The prevalence of gastroschisis was 1.65/10,000 births (59 cases) and of exomphalos 2.90/10,000 births (104 cases). There was no significant difference in prevalence of exomphalos or gastroschisis between SA and WA for the years 1986-90. However, if data from WA for the years 1980-85 were included, SA had a significantly higher prevalence of exomphalos (prevalence ratio 1.71, confidence interval [CI] 1.16-2.55), although not of gastroschisis (prevalence ratio 1.35, CI 0.79-2.32). Exomphalos was significantly more common in mothers < 20 years (odds ratio [OR] 2.45, CI 1.22-4.86) and in mothers of 40 years or older (OR 5.65, CI 1.69-16.77). Gastroschisis was more common in younger mothers (OR 8.76, CI 4.02-19.32). Both exomphalos and gastroschisis were associated with low birthweight, prematurity, intrauterine growth retardation and caesarean section. The reason for the higher prevalence of exomphalos in SA than WA was not clear, but may be related to differences in prenatal diagnosis. The association between maternal age < 20 years and exomphalos raises the possibility of common factors in the aetiology of gastroschisis and exomphalos.

