Unraveling the genetic basis of omphalocele: A systematic review

Key Points

• Omphalocele presents specific genetic variants associated with chromosomal abnormalities, including deletion and duplication events, which highlight its genetic complexity.
• Findings indicate that several biomarkers related to genetic pathways are crucial in understanding the development of omphalocele, supporting early detection.
• Assessment through a systematic review consolidates diverse genetic data across multiple studies to establish a clearer genetic landscape associated with omphalocele.
• This review emphasizes the need for more extensive genetic studies to validate findings and further explore the links between genetic factors and omphalocele risk.