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Fetal abdominal wall defects: six years experience at a tertiary center
Insights
Detecting anomalies in fetuses with omphalocele and gastroschisis is crucial. Early identification of associated anomalies and defect type aids in better counseling for these abdominal wall defects.
Area of Science:
- Perinatal Medicine
- Medical Genetics
- Fetal Surgery
Background:
- Abdominal wall defects, including omphalocele and gastroschisis, are significant congenital anomalies.
- Accurate diagnosis and management are essential for optimizing fetal outcomes.
Purpose of the Study:
- To investigate associated anomalies in fetuses with omphalocele and gastroschisis.
- To evaluate the impact of these anomalies on fetal management and outcomes.
- To determine the correlation between defect type, associated anomalies, and chromosomal abnormalities.
Main Methods:
- Retrospective analysis of fetal data between 2007-2013.
- Evaluation of chromosomal abnormalities and morphologic anomalies via ultrasonography and autopsy.
- Categorization of fetuses based on defect type (omphalocele or gastroschisis).
Main Results:
- Ten omphalocele and nine gastroschisis cases were identified among 61 fetuses.
- Seven omphalocele cases exhibited chromosomal abnormalities, all with multiple additional anomalies.
- A 65.3% termination rate was observed in the omphalocele group, contrasting with none in the gastroschisis group.
Conclusions:
- Detection of associated anomalies and defect type is vital for accurate prognosis in fetuses with abdominal wall defects.
- Comprehensive evaluation, including karyotyping and anomaly detection, improves counseling for affected pregnancies.
- Even with a normal karyotype, associated anomalies influence management decisions and outcomes for omphalocele and gastroschisis.
Abstract:
The authors' aim was to detect the associated anomalies and their effect on the management of the fetuses with omphalocele and gastroschisis. Between the period of 2007-2013, the data of fetuses with abdominal wall defects were analyzed. Chromosomal abnormalities and associated morphologic anomalies diagnosed by ultrasonography and autopsy were evaluated. Of the. 61 fetuses, ten (20.4%) omphalocele cases and nine (75%) gastroschisis cases were isolated. Chromosomal abnormalities were found in seven fetuses with omphalocele cases. All fetuses with abnormal karyotypes had multiple additional anomalies. Termination rate was 65.3% for omphalocele group versus none in the gastroschisis group. To give better counseling about the prognosis and outcome of the fetuses with abdominal wall defects, detection of additional anomalies as well as type of the defect are essential tools even if the karyotype is normal.

