FAQs
Healthcare Professionals
In cases where the infant is adopted, complete the card using the adoptive mother’s information. Mark the adoption bubble on the card as well. The Newborn Screening Program needs the correct parent or guardian information in case there is an abnormal screen result.
For deliveries at home or in a birth center, please order from our website at least 2 weeks prior to when you expect to need the kit. A newborn screening kit includes the 1st and 2nd newborn screening cards. The first screen is to be collected when the baby is 24-48 hours old. The second screen when the infant is about 2 weeks old. See our Practitioner's Manual opens in a new tab for more instructions or visit our Birth Centers and Home Births page.
Blood specimens should be collected from newborns between 24 and 48 hours of life. Exceptions to the 24-hour rule:
- A newborn screen should always be collected PRIOR to transfusion or discharge.
- Facilities responsible for transferring an infant are encouraged to collect a newborn screen prior to the transfer.
Draw a line through the blue text - SECOND NEWBORN SCREENING FORM- located in the upper left part of the card. Above the crossed-out text using block letters, write - FIRST. Do not write on or near the filter paper. If a parent brings the first newborn screening card to the 2-week well child check, please use a miscellaneous card to collect the second newborn screen and throw the first card away - do not save it. If you do not have miscellaneous cards, you can use the first card if you draw a line through the red text - FIRST NEWBORN SCREENING FORM and clearly write SECOND using block letters.
If the first screen is normal, then wait until the casts are removed or replaced to collect the second screen up to 6 months of life. If the first screen is abnormal, contact the Utah Newborn Screening Program to determine the plan of care.
Approximately one in every three hundred babies tested will receive a diagnosis. When a disorder is identified, early diagnosis and treatment will ensure the best possible outcome for the baby. All abnormal screen results should be taken seriously and recommended follow-up should be done as soon as possible.
No, there is no charge for repeat screens. Although there is a charge for the initial screen, the Utah Newborn Screening Program does not charge for repeat screens. Facilities collecting the repeat screen may have specimen collection charges.
Premature babies may have immature enzyme systems or thyroid function. It may be necessary to monitor their progress to be certain they reach normal levels. Unnecessary repeat testing can be avoided by collecting blood specimens 24 hours after birth, before a transfusion, and using correct specimen collection procedures.
False positive results may be due to immature endocrine or enzyme function in the newborn, the stress of birth on an infant, or the specimen being collected prior to 24 hours after birth. The Utah Newborn Screening Laboratory establishes screen cutoff values which keep the number of false positives at a minimum, yet minimizes the likelihood of an affected newborn being missed.
In Utah, newborn screening is done twice. The first screen is collected when the newborn is 24-48 hours old (generally prior to discharge from the hospital). The second screen is usually collected by the health care provider at the infant’s 2-week well baby checkup.
The parents or legal guardians and the licensed health care provider should sign the “Religious Objection To Newborn Screening” form opens in a new tab. The original should be placed in the child’s medical record with a copy provided to the parents or guardians and a copy sent to the Utah Newborn Screening Program. The waiver serves as documentation that the parents were informed about the possible adverse outcomes of not performing newborn screening and that they accept legal responsibility for the consequences of their decision.
Ideally, all babies should be screened in the first week of life. If the newborn screen is not done, collect a screen immediately. The infant will need the second screening completed a minimum of 5 days after the initial screening. Newborn screening kits can be purchased on our website.
Yes. Parents should arrange with a doctor, hospital, or midwife to have a newborn screening kit purchased and collected. Newborn screening kits can be purchased on our website. For more information, visit our Birth Centers and Home Births page.
Several small drops of blood will be collected from the newborn’s heel. Click here for specific instructions on collection.
Infants can be screened for all disorders up to 6 months of age. Reference ranges for the newborn screening tests have not been validated beyond the newborn period. For infants 6 months and older who have not had a newborn screen, we recommend proceeding directly to diagnostic testing if there are signs or symptoms of a disorder. The newborn screening medical consultants are available to assist with specific questions. See contact information below or please call 801-584-8256 for assistance. Cystic Fibrosis Clinic 801-213-3599 Endocrinology 801-213-3599 Hematology 801-662-4700 Metabolic Genetics 801-213-3599
A screening specimen collected before 24 hours of life could give false positive or false negative test results. Blood specimens should be collected from newborns between 24 and 48 hours of life. Exceptions to the 24-hour rule:
- A newborn screen should always be collected prior to transfusion or discharge.
- Facilities responsible for transferring an infant are encouraged to collect a newborn screen prior to the transfer.
Transient elevations of 17-OHP, the analyte for the congenital adrenal hyperplasia (CAH) screen may occur in pre-term and low birth weight babies. Because of this, four weight related 17-OHP ranges are in place to minimize the number of false positive results. Without a weight indicated on the collection form, CAH results cannot be reported. If the weight is inadvertently omitted, please call the Newborn Screening Program at 801-584-8256.
All tests performed by UPHL are calibrated to an expected blood volume contained in a 1/8-inch punch of filter paper. There must be an even penetration of blood for the test to be accurate. This means soaking through the filter paper with ONE drop of blood that fills the circle. See pages 22-23 of the Practitioner's Manual opens in a new tab for more information. Submitting a poor-quality specimen places the newborn at risk for a delay in diagnosis. It is important that another sample is collected from the newborn as quickly as possible.
A specimen is considered unsatisfactory if the specimen does not meet the lab requirements for testing. Common causes of unsatisfactory specimens are caked blood (more than one drop), blood that did not soak through the filter paper, not enough blood, specimen not properly dried, applying specimen with a capillary tube, alcohol not allowed to dry completely before collection, contaminated screening card, as well as other reasons.
The newborn screening requirements for the state of birth should be followed. Please contact the birth state and request a copy of the newborn screening results. Contact information for each state's Newborn Screening Program can be found at NewSteps state profiles opens in a new tab. If screening has not been done, Utah newborn screening can be completed by purchasing a newborn screening kit.
According to Utah rule R438-15-5 opens in a new tab, the attending health care provider is responsible for ensuring that an infant under their care has newborn screening. A parent or guardian should be informed of the type of specimen being collected, how it is obtained, the nature of the disorders being screened for, and the consequences of treatment and non-treatment. This responsibility includes following up on any abnormal screening results.
Test results are usually ready within two to three days after the receipt of the specimen. Normal results are automatically sent to the submitter (lab or clinic who collected the screen). Presumptive positive (clinically significant) test results are phoned to the health care provider listed on the collection form within 24-48 hours of obtaining the result.
The term 'PKU test' is outdated as well as misleading since PKU is only one of many disorders on the newborn screening panel. PKU was the first condition screened for by newborn screening in the 1960s. Utah has been screening for more than PKU since the 1970s. Telling a parent their newborn has an abnormal PKU can be confusing for parents and providers. An initial reaction would be to look up PKU online, when in fact the screening result may be abnormal for a different disorder on the screening panel. Please call it the newborn screen, NBS, heelstick, or blood spot test.
In general, all of the disorders that are detected by newborn screening tests are those that cause problems with an infant’s physical and mental development. The screening tests detect disorders including metabolic, hormone, and blood disorders. Babies born with one of these disorders can appear healthy in the newborn period. Also, there may be no known family history of one of these disorders. Even though these disorders are rare, early diagnosis along with timely and appropriate treatment can make the difference between healthy development and life-threatening problems.
Newborn screening checks for disorders that can cause problems with the way the body gets energy, how the body makes hormones, or how the body makes blood cells. Click here for a complete list of disorders.
Use of umbilical or cord blood is not acceptable. As with any laboratory test, the newborn screen assay has been validated using certain parameters. For newborn screening, the test has been validated on a dried blood spot collected from the capillary bed of the infant’s heel. Additionally, maternal blood contamination of cord blood may occur and interfere with the interpretation of the screening result leading to a false positive or false negative result.
Utah collects 2 screens for several reasons. First, at the time the second screen is collected, the infant is no longer protected by the mother's hormones. Because of this, infants may have a normal 1st screen, but then the 2nd screen is abnormal (e.g. Hypothyroid and Congenital Adrenal Hyperplasia). Additionally, some disorders are only identifiable on the first screen and the second screen is normal (e.g Very Long Chain Acyl CoA Dehydrogenase deficiency).