Genetic disease is estimated to impact 1% of all newborns. Babies that require care in the NICU experience at least a 10-fold increased risk for a genetic cause of their symptoms. The Division of Neonatal-Perinatal Medicine’s dedicated perinatal genomics program serves the unique needs of these babies and their families.
The perinatal genomics program helps clinicians and families determine if there is a genetic cause for why a baby needs NICU care. The division offers cutting edge diagnostic evaluations and genetic testing, access to specialists trained in caring for babies impacted by a genetic diagnosis, and novel therapies for many rare diseases. Faculty also lead a variety of research to better understand how to diagnosis and care for babies with a confirmed or suspected genetic diagnosis when current medical knowledge gaps are identified.
Services
- Expert genetic evaluations and comprehensive genetic counseling
- Rapid, comprehensive genetic testing with results available in less than a week
- Family focused care with integrated support from parents who have previously experienced a NICU journey with their own children
- Precision therapeutic care based on the patient’s genetic diagnosis
- Access to the Undiagnosed Rare Disease Clinic to help achieve a genetic answer when clinical testing has been unable to provide a diagnosis
