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Outcome of prenatally diagnosed anterior abdominal wall defects
P A Boyd1, A Bhattacharjee, S Gould
1Prenatal Diagnosis Unit, Women's Centre, Oxford Radcliffe Hospital.
Insights
Prenatal diagnosis of anterior abdominal wall defects like omphalocele and gastroschisis shows high survival rates. Isolated cases have excellent outcomes, with most infants experiencing no long-term issues.
Area of Science:
- Perinatal Medicine
- Medical Genetics
- Pediatric Surgery
Background:
- Anterior abdominal wall defects (AAWDs) are congenital malformations diagnosed prenatally.
- Omphalocele and gastroschisis are the most common types of AAWDs, differing in their embryological origins and associated anomalies.
- Accurate prenatal diagnosis and understanding of outcomes are crucial for effective management.
Purpose of the Study:
- To analyze the outcomes of prenatally diagnosed anterior abdominal wall defects, specifically omphalocele and gastroschisis.
- To compare the incidence of associated anomalies, karyotype abnormalities, and long-term prognosis between omphalocele and gastroschisis.
- To evaluate the impact of isolated defects on survival and long-term health.
Main Methods:
- Retrospective review of 100 consecutive cases of prenatally diagnosed AAWDs over 11 years.
- Classification of defects into suspected omphalocele and gastroschisis.
- Analysis of associated anomalies, karyotype results, survival rates, and long-term follow-up data up to age 2 years.
Main Results:
- Omphalocele occurred in 59% of cases, with 54% having associated defects and 29% abnormal karyotypes.
- Isolated omphalocele cases showed 88% survival to birth (excluding terminations), with most infants having no long-term problems.
- Gastroschisis occurred in 41% of cases, with a 97% survival rate (excluding terminations) and fewer associated anomalies.
- Gastroschisis was associated with younger maternal age and lower birthweight centiles compared to omphalocele.
Conclusions:
- Prenatal diagnosis of AAWDs allows for effective management and counseling.
- Isolated omphalocele and gastroschisis generally have favorable prognoses with high survival and low rates of long-term morbidity.
- The presence of associated anomalies significantly impacts the outcome of omphalocele.
Abstract:
One hundred consecutive cases of confirmed anterior abdominal wall defect, identified prenatally in the Oxford Prenatal Diagnosis Unit over 11 years, were studied. Fifty nine per cent of cases were suspected omphaloceles and 41% suspected gastroschisis. Fifty four per cent of omphaloceles were accompanied by other defects compared with 5% of those with gastroschisis. Overall, 29% of fetuses with omphalocele had an abnormal karyotype, and of those with another abnormality identified on scan (excluding four cases with no karyotype performed), 54% had an abnormal karyotype. Of the 27 cases with suspected isolated omphalocele, 14 were live born, all of whom have survived. If the 11 whose parents opted for termination of pregnancy are excluded, survival to birth was 88%. Six of the suspected isolated omphaloceles have Beckwith Wiedemann syndrome (BWS). Eight (57%) of the live born babies with omphaloceles had major problems up to the age of 2, but only one (7%) has long term major problems. This child has BWS and is deaf. Of the 39 cases of suspected isolated gastroschisis, 33 (85%) pregnancies resulted in live birth and one in neonatal death after surgery. Survival rate (excluding terminated pregnancies) was 97%. Gastroschisis was associated with a younger maternal age than omphalocele (p < 0.001) and lower birthweight centile (p < 0.01). Fifteen per cent of the gastroschisis babies had major problems up to the age of 2 years and 12% long term developmental problems. Ninety three per cent of the omphalocele babies and 88% of those who had gastroschisis have no long term problems. Over the study period there have been major changes in scanning equipment and expertise. Since 1991 no woman with a suspected isolated lesion has opted for termination of pregnancy.