Newborn Screening and Rare Disease Day


Most newborns are born healthy and normal. However, there are some health problems that may not be detected on a routine exam by your baby's physician. This is why blood tests, or screenings, are used to screen newborns for certain genetic disorders. A filter paper blood spot sample is required by state law to be submitted to the Tennessee State Laboratory for every baby born in Tennessee. 

A newborn baby may look perfectly healthy, but still have an inherited disease. To prevent the effects of disease, the sample needs to be drawn during the infant's first two to three days of life. Early diagnosis and treatment can make the difference between a child leading a relatively normal life or having more serious developmental delays, having long-term healthcare needs or even dying.

How and where is your baby tested? 
Before your baby leaves the hospital nursery, his or her heel will be pricked and a few drops of blood will be collected. This blood specimen will be sent to the State Laboratory in Nashville for testing. The hospital will also provide you with a Parent Pamphlet giving you more details about newborn screening.

What is the parents' role? 
After you get home from the hospital, you may be contacted by your baby's doctor or the local health department to bring your baby in for a repeat blood sample. It is important that you follow up quickly. If you have any concerns about the results of the screening tests, please contact your baby's healthcare provider.

Some of the disorders included in the screening are;

  • Amino Acid Disorders
  • Biotinidase Deficiency
  • Congenital Adrenal Hyperplasia
  • Congenital Hypothyroidism
  • Critical Congenital Heart Disease
  • Cystic Fibrosis
  • Fabry Disease
  • Fatty Acid Oxidation Disorders
  • Galactosemia
  • Gaucher Disease
  • Hemoglobinopathies (Sickle Cell Anemia)
  • Homocystinuria
  • Krabbe Disease
  • Maple Syrup Urine Disease (MSUD)
  • Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
  • Mucopolysaccharidosis Type 1
  • Organic Acid Disorders
  • Phenylketonuria (PKU)
  • Pompe Disease
  • Severe Combined Immunodeficiency (SCID)

    Find additional information about newborn screenings.

    Hearing Screenings
    In addition to the screening for genetic disorders, your baby’s hearing will also be checked soon after birth. Hearing screening is not a blood test. The test is very safe and painless (many babies sleep through the screening). Your baby may pass the hearing test or may need to be referred for further testing. If your baby does not pass the hearing test, contact your baby’s medical provider or a hearing provider right away to schedule a follow-up appointment.

    Find a hearing provider near you:
  • Tennessee Directory of Pediatric Hearing Providers
  • Hearing Providers in East Tennessee
  • Hearing Providers in Middle Tennessee
  • Hearing Providers in West Tennessee

Learn more about newborn hearing screenings.

For more information, call 615-532-8462.

Rare Disease Day 2021

Rare Disease Day takes place on the last day of February every year. The main objective of Rare Disease Day is to raise awareness among the public, policy-makers, health professionals, researchers and public authority about rare diseases and their impact on patients' lives. Get ready to get invloved on February 28, 2021!