New developments in genetic diagnosis: implications for the craniofacial surgeon.

Craniofacial anomalies comprise a frequent cause of birth defects requiring surgical treatment. A subset of children with craniofacial anomalies will have additional birth defects, developmental delays, or recognizable genetic syndromes. Genetic consultation should be offered to the families of children in this subgroup. The overall goal of a genetic consultation is the identification of a unifying diagnosis to direct medical management and provide families with information regarding prognosis and recurrence risk. Current clinical genetic testing options for children with recognizable craniofacial syndromes include single-gene-targeted mutation analysis, complete gene sequencing, and gene duplication/deletion analysis. Testing options for children who have multiple birth defects without a recognizable genetic syndrome include karyotype analysis and array comparative genomic hybridization. Future testing may include exome or whole-genome sequencing. In this article, we will discuss indications for genetic consultation and review current and future gene testing options for craniofacial conditions.