PURPOSE: Genetic testing has emerged as a promising tool in pediatric plastic surgery, offering the potential to revolutionize patient care. This study aims to explore the pivotal role of genetic testing in the field, its current utility, and its future prospects, with a focus on metopic craniosynostosis as a case study.
METHODS: An extensive review of the literature and a retrospective analysis of clinical cases were conducted to investigate the integration of genetic testing into pediatric craniofacial plastic surgery.
RESULTS: We identified 165 patients diagnosed with and treated for metopic craniosynostosis at a single center born between January 1997 and December 2020 as to allow for a minimum follow-up of two years. Approximately 61% received no offer of a genetic evaluation and testing, while 26.8% were seen by a Geneticist and proceeded with testing. 12.2% were offered a genetic evaluation but either refused testing or were unable to finance it due to a lack in insurance support. The most common tests administered were Karyotyping and microarray analysis. The most commonly successful test was whole exome sequencing, which was ordered in only 18.2% of patients.
CONCLUSION: The future of pediatric craniofacial plastic surgery, particularly in complex conditions like metopic craniosynostosis which are often associated with other congenital differences and disorders, hinges on the transformative potential of genetic testing.The integration of Genetics and Surgery promises to unlock new frontiers in patient care, ultimately improving outcomes and the overall quality of life for affected children.
