Newborn Genetics Screening
All newborns born in Tennessee receive screening for over 70 genetic disorders that could impact their health and development. A routine doctor visit may not uncover such disorders. Changes in diet, procedures and medication can improve outcomes for babies with these conditions.
At Vanderbilt, we typically perform a newborn screening before your baby leaves the delivery center or hospital. This screening includes a heel prick to obtain a small amount of blood. We send this sample to the state newborn screening lab for testing. Your child’s pediatrician and the Vanderbilt team receive results that require more follow-up. Our team talks with your pediatrician to find out if your baby needs re-testing at their office, or an immediate visit at a genetics clinic.
An "abnormal" result does not always mean your baby has a genetic condition. Most babies do not have the condition they are identified to be at risk for. More follow-up, including blood or urine tests and a physical exam at a genetics clinic, may be needed. If the follow-up testing confirms a genetic condition, our genetics clinic offers you access to leading experts in genetic disorders for treatment and management.
The newborn screening also includes safe, painless hearing tests. A confirmed hearing loss requires an early start with therapy to help with communication skills.
All babies are also screened for possible heart defects.
Visit the Tennessee Newborn Genetic Screening website for details.
Conditions We Treat
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Maple syrup urine disease
- Phenylketonuria (PKU)
- Pompe disease
- Biotinidase deficiency