minnesota newborn screening program
Newborn Screening Results
Almost every day in Minnesota a baby is found to have one of the disorders detected by the newborn screening panel. Because newborn screening is, as the name suggests, screening and not diagnostic testing, more babies will have positive or abnormal results than are ultimately found to be affected. The Newborn Screening Program is constantly striving to reduce the number of false positive results while ensuring that no affected babies are missed.
All positive results require follow-up diagnostic testing to determine if the infant is truly affected. The Newborn Screening Program immediately notifies the physician providing follow-up care for the infant. Simultaneously, the Minnesota Department of Health notifies an appropriate specialist (hematologist, metabolic geneticist, endocrinologist, cystic fibrosis specialist). The infant’s primary care provider and the specialist develop a management plan for the baby.
Laboratory evaluation of the infant (PDF: 137KB/1page)
By the time birthing centers receive copies of the infants’ newborn screening results, the Newborn Screening Program has already ensured that infants with positive or abnormal results have been connected to a health care provider.
After receiving one, two, or even three abnormal screen results that turn out to be false positives, it can be easy to dismiss the recommendations made by MDH on any future positive newborn screens that come your way.
DO NOT DELAY FOLLOW-UP. As with any screening test, some false positive results occur as part of an overall strategy aimed at minimizing the number of false negative results.
Providing follow-up after an abnormal newborn screen is part of the newborn screening process; explaining this component of newborn screening to parents can help reduce parental anxiety, but by dismissing the newborn screening result or not initiating prompt follow-up, you are putting the baby at potential risk.
A REFER result indicates that an infant did not pass the hearing screen in one or both ears. A REFER newborn hearing screening result does not mean that an infant has a hearing loss. Both ABRs and OAEs are affected by many outside factors which can lead to a high false positive rate for hearing screening. Follow-up rescreening or evaluation by an audiologist is necessary to establish a diagnosis or rule out hearing loss.
Providers should do the following with a REFER result:
- Review information from the hospital
- Initiate rescreening or referral for further evaluation by an audiologist
- Contact the family and encourage prompt follow-up
- If hearing loss is confirmed, refer to early intervention, parent support, and specialty services
Occasionally, newborn screening staff will ask the baby’s primary care provider to collect a repeat newborn screen after the baby has already been discharged from the hospital. Repeat newborn screening might be requested if the first screen was unable to be tested or had abnormal results. This can be accomplished through the birth center laboratory or the primary care clinic. For information on how to order newborn screening cards, please visit the Ordering Newborn Screening Cards Page.
Borderline Fact Sheet
As a health care provider, it is especially important to remember that newborn screening is not diagnostic when it comes to normal results. If a child is showing symptoms of a disease screened for by newborn screening, and had a normal newborn screen, it does not mean that the child cannot have the disorder.
False negatives can happen in newborn screening. If a child is found to have a disorder after a negative screening test, please notify the Newborn Screening Program.
For parents of children born after November 16, 2011:
If the child is more than 71 days old at the time the false negative is identified, the remaining specimen will have been destroyed and program staff will not be able to re-test for further information. If the child is more than 2 years of age, the program will not have a record of the testing results and you will have to obtain the child's medical records.
Please follow-up on any symptoms of newborn screening disorders immediately – regardless of the newborn screening results!
Since not all forms of childhood hearing loss are congenital, a child who passes the hearing screen, but who has hearing loss risk factors should continue to be monitored by the provider.
Risk factors for late onset or progressive hearing loss include:
- a family history of childhood hearing loss
- exposure to infection before or after birth (i.e., cytomegalovirus or bacterial meningitis)
- spending more than 5 days in the neonatal intensive care unit (NICU)
- presence of other congenital and/or craniofacial anomalies
- exposure to ototoxic medications