Importance of prompt diagnosis for individuals affected by 22q11.2 deletion syndrome

"Prompt diagnosis can play an important role in improving the quality of life for individuals affected by the chromosome 22q11.2 deletion syndrome. The 22q11.2 community therefore supports early identification including via prenatal and neonatal screening," said Prof. Donna McDonald-McGinn, Chair of the 22q11.2 Society, Director of the 22q and You Center, Chief of the Section of Genetic Counseling, and Associate Director of Clinical Genetics at the Children's Hospital of Philadelphia and Clinical Professor of Pediatrics at the Perelman School of Medicine of the University of Pennsylvania.

"Importantly, prenatal suspicion of 22q11.2 deletion syndrome allows for evaluation, confirmatory testing, and delivery at high-level healthcare facilities where neonates have access to potentially life-saving interventions including cardiac surgery, as well as treatment for other key features such as low calcium, immune deficiency, feeding, swallowing, and breathing issues, all with the goal of optimizing long-term outcome while obviating the protracted diagnostic odyssey frequently traversed by families."