Get Answers

Health Care Providers

What is the purpose of newborn screening?

All conditions detected by newborn screening can negatively impact an infant’s physical and mental development. The screening tests detect metabolic, endocrine, hemoglobin, pulmonary, and other conditions. Babies born with one of these conditions can appear healthy, and there may be no known family history of one of the conditions screened for. Early diagnosis, along with timely and appropriate treatment, can be the difference between healthy development and life-threatening problems.

 

What conditions are on the screening panel?

Newborn screening checks for conditions that can cause problems with the way the body gets energy, and how the body makes hormones, or how the body makes blood cells. Florida currently screens for more than 55 conditions. Click here for a complete list of conditions.

When should newborn screening be completed?

The three components of newborn screening – blood spot collection, CCHD screening, and hearing screening – are part of the standard of care for all newborns.

For well-babies: Newborn screening should be completed as soon after 24 hours as possible to promote early identification.

For Neonatal Intensive Care Unit (NICU) babies: The first blood spot specimen should be collected upon admission to the NICU. This is to serve as a baseline prior to transfusion or other treatments that may alter screening results. In the case of facility transfer: A blood spot specimen should be collected prior to transfer. A blood spot specimen should also be collected upon admission to the new facility.

A second blood spot specimen should be collected at 48-72 hours of age. A third specimen should be collected prior to discharge for all newborns who weighed less than 2,000 grams at birth. This third specimen is at the discretion of the attending provider for newborns with birth weight more than 2,000 grams.

If additional specimens are required, the treatment facility will be contacted by the Newborn Screening Follow-up Program with instructions. It is advised that the results of previous newborn screening specimens be reviewed prior to discharge from care for all newborns.

The completion of the hearing and CCHD screenings should occur when it is clinically appropriate to do so prior to discharge.

How do I order newborn screening cards?

Specimen collection cards may be ordered from the Bureau of Public Health Laboratory in Jacksonville. A three-month supply should be ordered; allow four to seven days for the shipment to arrive.

Should I collect a newborn screen before or after a transfusion?

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 a newborn are encouraged to collect a newborn screen prior to the transfer.

What is the chance that a baby will have one of the conditions detectable by screening?

Approximately, one in every 300 babies tested will receive an abnormal diagnosis. When a condition 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 tests should be done as soon as possible.

 

Why is it necessary to retest some babies?

Premature babies may have immature enzyme systems or underdeveloped thyroid function. It may be necessary to monitor the infant’s progress to ensure they reach normal levels. Unnecessary, repeat testing can be avoided by collecting blood specimens no sooner than 24 hours after birth, before a transfusion (and in less than 24 hours after birth if necessary), and following correct specimen collection procedures.

 

Why do some newborn screens have “false positive” results?

False positive or abnormal 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 less than 24 hours after birth.

When will the test be done?

The newborn screen should be collected not less than 24 hours and up to 48 hours after birth (generally prior to discharge from the hospital).

 

What do I do if the parents refuse the screen?

While not recommended, parents may refuse newborn screening for any reason. The person responsible for collecting the specimen must obtain a written refusal from the parent and include it in the child’s medical record. The written refusal serves as documentation confirming the parents were informed of the possible adverse outcomes of not performing newborn screening and they accept legal responsibility for the consequences of their decision.

What if the newborn screen is not done for some reason in the first week of life?

Ideally, all babies should be screened in the first week of life. If the newborn screen was not done during that time, collect a screen immediately. 

 

How is the blood for the screen collected?

Several small drops of blood are collected from the newborn’s heel. Please see step-by-step instructions here.

Why is it necessary to wait 24 hours before collecting a newborn screen specimen?

A screening specimen collected before 24 hours of life could give false positive or false negative test results. Blood specimens should be collected once the newborn is 24 hours old, and up to 48 hours after birth. Exceptions to the 24 to 48 hour rule:

  • A newborn screen should always be collected prior to a transfusion or discharge.
  • Facilities responsible for transferring an infant are encouraged to collect a newborn screen prior to the transfer.

I am having trouble collecting blood, what should I do?

Please see step-by-step instructions here.

 

What is an unsatisfactory specimen?

A specimen is considered unsatisfactory if the specimen does not meet the laboratory’s requirements for testing. 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, incomplete information on screening card, as well as other reasons.    

 

Why was the newborn screening specimen reported as unsatisfactory?

All tests performed by the Bureau of Public Health Laboratory – Jacksonville 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. Submitting a poor-quality specimen places the newborn at risk for a delay in diagnosis. It is important to collect another blood sample immediately after being notified of an unsatisfactory specimen.  

The most common causes of unsatisfactory specimens are caused by not having enough blood, either to fill the circles or completely soak through the filter paper.

 

What if a baby has moved here from out of state?

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. If screening has not been done, newborn screening can be completed at a Florida hospital or primary care provider’s office.

 

Whose responsibility is it to advise the parents about the screen?

The health care provider after birth should inform parents or guardians of the type of screening being completed, how it is obtained, the nature of the conditions being screened for, and the consequences of treatment and non-treatment prior to completion of any part of newborn screening. 

The newborn’s primary care provider is responsible for reviewing results of all newborn patients. This responsibility includes following up on any abnormal screening results.    

 

What is the turn-around-time for newborn screening test results?

Test results are usually ready within two to three days after the receipt of the specimen. Normal results are automatically sent to the collection facility. If the specimen requires second or third tier testing, final results may take and additional ten days to be released. 

Abnormal results are released to the Newborn Screening Follow-up Program as they are finalized. The Follow-up Program will contact the appropriate parties about results before testing of all conditions is complete if necessary. 

 

Why shouldn’t we refer to newborn screening as the “PKU test?”

The term “PKU test” is outdated and misleading since phenylketonuria (PKU) is only one of many conditions on the newborn screening panel. PKU was the first condition screened for by newborn screening in the 1960s. Using this misnomer can cause confusion among parents and providers who have been notified of an abnormal test result. The initial reaction from parents could be to look up PKU online and jump to conclusions. Providers hearing this term won’t know the abnormal test result could be related to another condition on the screening panel. More accurate terms are newborn screen, heel stick, or blood spot test.

 

Is it okay to use umbilical or cord blood for the newborn screen sample?

The use of umbilical or cord blood is not acceptable. As with any laboratory test, the newborn screen 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.

 

How do I fill out the card if the baby is adopted or in foster care?

In cases where the newborn is adopted, complete the card using the adoptive parent’s information and mark the adoption bubble on the card. If the adoptive parent’s information is unknown, list the adoption attorney or agency handling the adoption and the phone number. 

In cases where a newborn is discharged home in the care of a foster placement, please list the Department of Children and Families (DCF) contact in the mother’s information field. List the DCF representative’s name, followed by “DCF” and their contact phone number. 

The Newborn Screening Follow-up Program needs to be able to contact the person responsible for coordinating follow up care should the newborn’s screening specimen have an abnormal result. 

Can newborn screening be done if a baby is born at home or in a birth center?

Yes. Parents should arrange with a doctor, hospital, or midwife to have a newborn screening card ordered and collected. Newborn screening cards can be ordered here.