For Parents
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 are used to screen newborns for these problems. 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 should be drawn during the infant's first two to three days of life.
Accessing Services
All infants born in Tennessee should have the newborn screening filter paper collected prior to leaving the hospital. Tests may need to be repeated for a number of reasons including being improperly collected, the infant received a blood transfusion, the specimen was collected when the baby was less than 24 hours of age or a possible disorder is indicated. Parents can contact the baby’s doctor or the local health department to schedule follow-up testing. Tennessee has a comprehensive genetics program that provides access to genetic screening, diagnostic testing, and counseling services for individuals and families who have, or are at risk for, genetic disorders.
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.
The extra blood is stored at the Department of Health Laboratory for one year. It is stored in case the blood is requested by you or the baby’s doctor in the future. The lab also uses it to do quality checks, to make sure the machines are working right or to evaluate new tests to help more babies in the future. Stored blood used for these reasons will have name, address and other information removed so the sample cannot be traced back to your baby.
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 health care provider.
Disease Descriptions and Resources
Argininosuccinic Aciduria (ASA)
Benign
Hyperphenyllalaninemia (H-PHE)
Beta-Ketothiloase
Deficiency (BKT)
Bioptherin
Defect in Cofactor Regeneration (BIOPT-REG)
Bioptherin
Defect in Cofactor Synthesis (BIOPT-BS)
Carbomyl
Phosphate Synthesase 1 Deficiency (CPS)
Carnitine
Acylcarnitine Translocase Deficiency (CACT)
Carnitine
Palmitolytransferase I (CPT-IA)
Carnitine
Palmitoyltransferase Type II Deficiency (CPT II)
Galactokinase
Deficiency (GALK)
Glutaric
Acidemia, Type I (GA-I)
Glutaric
Acidemia, Type II (GA II)
Holocarboxylase
Synthesase Deficiency (MCD)
3-Hydoxy-3-Methylglutaric
Aciduria (HMG)
Hyperornithine
with Gyrate Deficiency (Hyper ORN)
Hyperornithinemia-Hyperammonemia-Homocitrullinuria
Syndrome (HHH)
Medium/Short
Chain L-3 Hydroxyacyl -Coa Dehydrogenase Deficiency (M/SCHAD)
2-Methyl-3-Hydroxybutyric
Acidemia (2M3HBA)
2-Methylbutyrylglycinuria (2MBG)
3-Methylcrotonyl-CoA-Carboxylase
Deficiency (3-MCC)
3-Methylglutaconic
Aciduria (MGA)
Methylmalonic
Acidemia with Homocystinuria (Cbl C,D F)
Methylmalonic
Acidemia: Cobalamin Disorders (Cbl A, B)