Information about information regarding new/infants health screening
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minnesota newborn screening program =================================== Homebirths - Frequently Asked Questions =======================================
--------------------------------------------------------------------- On this page: Collecting Newborn Screening Specimens Conducting newborn hearing screens Parent Education Refusal of Newborn Screening Newborn Screening Results
Collecting newborn screening specimens -------------------------------------- Who is responsible for collecting the newborn screening specimen?
Newborn screening is mandated by Minnesota Statutes 144.125 – 144.128; the statute establishes that the person attending the birth is responsible for educating parents about newborn screening and collecting the newborn screening specimen. How should the specimen be collected?
Newborn screening specimens should be collected by heel-stick. Because normal values and cutoffs for the newborn screening assays are determined from samples collected by heel-stick, national standards require that all newborn screening specimens be collected in this manner. If a heel-stick cannot be done on an infant, contact the Newborn Screening Program for guidance. Specimen Collection Information Proper Heel-Stick Technique Flyer (PDF: 320KB/2 pages)
When should the specimen be collected? Specimens are most accurately tested when they are collected between 24 and 48 hours of age. All normal values and reference ranges for newborn screening tests are based on specimens drawn from infants during this age window. Specimens drawn later may increase the chance that the baby will suffer from the affects of the disease before treatment has begun.
For babies less than 24 hours of age at the time of collection, results for some disorders cannot be classified as negative because normal values are not established for this age window. If a specimen is drawn at less than 24 hours of age, the results will be reported as “Unsatisfactory,” and a repeat specimen will be required to ensure accurate screening results. If the parent and practitioner schedules do not allow for specimen collection during the 24 to 48 hours timeframe, a specimen should still be sent as soon as possible even if the baby is older than 48 hours of age.
Back to top Conducting newborn hearing screens ----------------------------------
Minnesota state law (Minnesota Statute 144.966) requires all professionals attending a birth outside a hospital to provide information orally and in writing to parents regarding places where the parents may have their hearing screened and the importance of screening. Information on hearing screening can be found on the Hearing Screening page. Hearing Screening Information
Back to top Parent Education ----------------
What if an infant has a family history of a disorder detected by newborn screening? Please contact the MDH Newborn Screening Program before submitting a sample if a family has a history of a disorder on the newborn screening panel. At minimum, include information about the family history (what disorder the family has) on the screening card.
In addition to newborn screening, infants who have a family history of a disorder detected by newborn screening should have definitive diagnostic testing for that particular disorder. Parents with a child already affected with one of the disorders on the screening panel, should contact their medical specialist for guidance regarding testing and care in the newborn period for the new baby. Is there newborn screening information for parents?
A parent brochure is available from the MDH Newborn Screening Program and you can obtain free copies by contacting the program directly at (800) 664-7772. A copy of the brochure is sent with every screening card. You are welcome to order as many cards as you need to share with expectant parents and other interested people. You may also want to encourage the families you care for to explore this Web site. They may be particularly interested in the parent-to-parent stories in the Screening Spotlight. For babies with positive results, the MDH Newborn Screening Program has developed parent fact sheets for specific disorders.
Disorder Information What if the family doesn't speak English?
The MDH parent brochure is also available in Spanish. Spanish Parent Brochure
Alternatively, fact sheets about newborn screening in a variety of languages are found at the following sites: New England Newborn Screening Program California Department of Public Health New England Regional Genetics Group
Currently, newborn screening refusal forms are not available in any language other than English. In the event that a non-English speaking family requests to opt-out, MDH recommends you have a translator available to both read the form to the family and answer any questions the family may have about newborn screening or parental options. Back to top
Refusal of Newborn Screening ---------------------------- Can parents refuse newborn screening for their infant?
Parents have the option to choose to have the specimen and the results destroyed or to refuse screening of their child. Parents must indicate their refusal in writing, and a copy should be submitted to the MDH Newborn Screening Program. The original form should be retained in the child’s medical chart with a copy provided to the parent(s). The refusal form 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. Since homebirth practitioners really know the families they care for, they may choose to remain in dialogue about the advantages of screening rather than move to quick signing of the opt-out forms. Parental Opt-Out Options & Forms
Back to top Newborn Screening Results -------------------------
How do I obtain a copy of newborn screening results? MDH mails a paper copy of the newborn screening results back to the individual or organization who submitted them. If you do not receive a baby’s screening results in a timely manner, call the MDH Newborn Screening Program at (800) 664-7772.
When do newborn screens need to be repeated? Repeat newborn screen results are typically required after the initial screen has come back with borderline results for a specific disorder or when an initial specimen is unsatisfactory. Staff from the Newborn Screening Program will call you or the baby’s health care provider (if different) with information about the borderline results and a request for a repeat specimen. Repeat screening requires a new specimen card and the full fee. Contact the Newborn Screening Program at (800) 664-7772 if financial circumstances may prohibit a family from having a repeat newborn screen.
A repeat specimen is requested if the initial specimen was unsatisfactory. If, for example, too little or too much blood was applied to the card, or the specimen was contaminated because something was spilled on it, accurate results cannot be obtained and a repeat specimen is requested. Success in collecting screening specimens is dependent on operator experience. If you have only recently started collecting specimens or do so infrequently, you are more likely to have unsatisfactory results. More information and tips on proper specimen collection can be found in the Specimen collection section. Repeat Newborn Screening (PDF: 150KB/1 pages) Borderline Newborn Screen (PDF: 130KB/1 page)
What if a baby in my care has a positive newborn screening result? For positive results, MDH immediately notifies by phone the infant’s health care provider listed on the screening card. MDH may also contact an appropriate specialist. Together with the specialist’s guidance, the health care provider should promptly contact the family and arrange for evaluation and diagnostic tests. You may want to discuss this possibility with the family and ask who they would want to be involved in their infant’s care in the rare event that results were abnormal and required immediate action.
What about false positive results? Any screening methodology is subject to some false positive results. False positive results may be caused by the stress of birth; the specimen being collected prior to 24 hours after birth; poor specimen collection techniques; or the way the specimen was dried, stored, or transported. The MDH Newborn Screening Program establishes screening cutoff values to keep the number of false positives at a minimum while ensuring that affected infants are not missed (false negatives).
False positives can be hard to explain to families, but this simple analogy may be helpful. We all expect our smoke detectors to go off and warn us if there is a fire in our homes. If the detector sounds off each time you use the toaster; that is a false positive. If there really is a fire and the alarm fails to sound off and get you out of bed; that is a false negative that can have tragic effects. Just like an alarm manufacturer tries to build an alarm that neither fails to warn us in an emergency nor goes off too easily, MDH tries to run a screening program that never misses a sick baby and has as few false positives as possible.
What is the chance that an infant will have one of the disorders found by newborn screening? The chance that a baby will have one of the disorders detected by newborn screening is small. Each year, approximately 1 in 800 Minnesota babies (about 90 infants) will be diagnosed with one of the disorders. Additionally, it is estimated that 1 in 300 babies will be found to have a congenital hearing loss in Minnesota. In these cases, early diagnosis, treatment, or intervention may prevent many adverse outcomes associated with these conditions. Health care providers and families should treat all abnormal or refer screening results urgently and should complete recommended follow-up testing or evaluations without delay.
What is the Newborn Screening Program’s specimen storage policy? This policy is currently under review and may be changed this year. Newborn blood spot specimens are stored securely for an indefinite period of time. MDH may use specimens in the laboratory for:
Further testing which can confirm the original screening results Developing new screening tests and improving existing tests
Performing further clinical evaluation - a parent or physician may request a residual newborn screening specimen from a child who died of unknown causes or who is ill, but whose treatment interferes with laboratory testing. Helping parents to identify a missing or deceased child.
Researchers outside MDH may use specimens only if the specimens cannot be traced to individuals and the research has been approved by an institutional review board (IRB). Dried Blood Spots (PDF: 130KB/1 page)
Who decides which disorders are included on the newborn screening panel? Based on nationally accepted criteria, the Minnesota Department of Health Newborn Screening Advisory Committee makes recommendations on disorder inclusion to the Commissioner of Health. The Newborn Screening Advisory Committee meets two times each year to talk about newborn screening issues. Members include parents of affected children, advocacy groups, health care providers, hospital representatives, and other medical and educational experts. The Commissioner has final approval for the addition of new disorders to the screening panel.
Advisory Committee Back to top
--------------------------------------------------------------------- If you have questions or comments about this page, please contact Newborn Screening at: health.newbornscreening@state.mn.us
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