"Going through a wild experience like that just kind of bonds you to those that helped you through that time, and I just feel supremely grateful for each and every one of you! I even told A when we came in for the PKU days later that I got all excited to see you guys. You just put a smile on my face! Thanks so much again for all you did and all you do!"
According to Utah State Code 26-10-6, we are required to perform a newborn blood spot screen (formerly called the "newborn metabolic screen" or "PKU") on your baby.
Why is this required?
The screening test checks for more than three dozen rare but serious conditions your baby could have. In all of these disorders there are no symptoms at birth. In most of them, by the time you see symptoms, severe irreversible damage has been done. If caught early, however, all can be treated to prevent the majority of the damage.
There are three general types of disorders tested on the screening test. They are: Metabolic Disorders (where the body does not produce an enzyme required by the body, and substances normally metabolized build up in dangerous or lethal amounts), Endocrine Disorders (where the baby does not produce certain hormones required by the body), and Hemoglobin Disorders (where the body does not correctly construct the hemoglobin in red blood cells, thus affecting how oxygen is used by the body, whether enough oxygen is usable, or other problems).
How is the test performed?
The test is performed by making a cut in your baby's heel and obtaining a small amount of blood which is put on a test card and submitted to a state laboratory. The timing of the test is important. Before 24 hours of age parts of the test may not be accurate. After 28 days damage to an affected child may already be occurring. The ideal time to perform the test is twice, once between 24 - 48 hours of age, and again at 14 days of age.
What are the risks of not performing the test?
The risks of not performing the tests are that your child may be affected by one or more of the tested-for conditions, and may suffer the effects of the disorder(s) if not treated. These effects include brain damage, mental retardation, illness, and death.
What are the risks of performing the test?
What if I want my baby tested?
We will ask you to sign an authorization form and we will test your baby at approximately 48 hours and 2 weeks of age.
What if my baby tests positive?
If your baby has an abnormal result, further testing is necessary to confirm the diagnosis. Additional testing does not necessarily mean that your baby has one of these diseases. The provider identified on the screening form (usually BetterBirth) will be notified of the abnormal results and s/he will notify you of the need for further testing. Normal test results are mailed to the provider who performed the test. If your baby is identified as having phenylketonuria (PKU) or galactosemia, you will be referred to the Metabolic Clinic, which provides diagnostic and consultative services for children and adults with metabolic disorders. Evaluation and management services are provided by a team which includes a pediatrician/geneticist, nutritionist, psychologist, social worker, genetic counselor, nurse, and secretary. Other consultants, such as neurology, ophthamology, and speech and hearing specialists, are available if needed. The Metabolic Clinic staff helps coordinate efforts to purchase special metabolic formulas and medications with pharmacies, the WIC Program and other community agencies when needed. The Metabolic Clinic is administered by the Division of Medical Genetics, Department of Pediatrics, University of Utah Medical Center. The clinics are held at Primary Children’s Medical Center. Call 801-585-2457 for more information.
If your baby has a hemoglobinopathy, you will be referred to the Hematology clinic. The hematology clinics are held at Primary Children's Medical Center. There are similar clinics for other disorders found with this test.
What if I do not want my baby tested?
The law provides that parents may refuse this test for religious reasons. We will ask both parents to sign a waiver which we must send to the state, and we will not perform the test.