Newborn Genetic Screenings

Newborn screening allows for the early diagnosis of metabolic disorders, followed by appropriate medical treatment. All babies born in Tennessee are screened for certain genetic conditions - this screening generally occurs before a baby leaves the hospital after birth. If any of the test results are abnormal showing a possible disorder, the Department of Health follows up with the baby’s doctor to initiate retesting, confirmation and treatment from a specialist if necessary.

Early diagnosis and treatment can make the difference between a child leading a relatively normal life or having more significant developmental delays, long-term health care needs, or even death. Click here for more Newborn Genetic Screening information.

Newborn Screening Program

Tennessee law requires a blood sample be obtained for each infant born in the state and tested for specific genetic disorders before discharge from the hospital. A parent may refuse testing due to religious beliefs. However, some genetic disorders can cause mental retardation or death if not treated quickly.

The Tennessee Department of Health screens for more than 30 diseases, which may reflect as many as 50 different genetic disorders.
The test methods used are not suitable for infants over 6 months of age.
Some of these disorders include:

  • Phenylketonuria (PKU)
  • Congenital hypothyroidism
  • Congential adrenal hyperplasia
  • Galactosemia
  • Sickle Cell

Learn more about these disorders and genetic screening at Tennessee Department of Health's Newborn Genetic Screening page For Parents.

 

Follow-up of abnormal or unsatisfactory specimens is critical, and further testing is required. The state lab informs the parent/legal guardian and provider by letter of need for confirmatory testing, follow-up, and treatment. The appropriate endocrinologist, genetic or sickle center is also notified.

The state lab or genetics center will notify the Chattanooga-Hamilton County Health Department when a repeat test has not been completed. The staff of the Case Management Services Department then attempts to contact the parent/legal guardian by phone or home visit.

Parents are instructed in the importance of retesting and urged to follow-up with doctor appointments for additional lab tests and evaluation. They are also given educational materials on newborn genetic/metabolic disorders.

For more information, please call (423) 209-8080 or visit http://tn.gov/health/topic/MCH-nbs