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Office of Newborn Screening

Healthcare Providers

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The success of the Newborn Screening program depends on the coordinated efforts of many health professionals. Medical Home and/or other Healthcare Professionals are generally responsible for: ordering the screening tests for newborn infants in their care, informing parents about the screening tests, and collection and handling of newborn screening specimens. Practitioners, and/or their contracted laboratories, may collect and send specimens for testing. Practitioners, hospitals and laboratories work together to coordinate timely collection and rapid delivery of acceptable newborn screening specimens to the Arizona Public Health Laboratory (State Lab).

Bloodspot/Heel Stick Screening | Hearing Screening & EHDI | Disorder Information | Education | Forms | Legal Requirements | Responsibilities | Talking to Parents | New Providers | Emergency Planning with Patients

Responsibilities

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The following are the responsibilities of the medical provider as a partner in the Office of Newborn Screening:

Inform Parents about Newborn Screening

  • Convey the importance of newborn screening and consequences of delayed identification of affected infants:
    • there is no way of predicting affected babies
    • most are identified with no family history
    • most affected babies look normal at birth
    • permanent damage can be done before symptoms appear and some babies can die
  • Provide educational materials to parents of any baby who has a bloodspot test ordered:
    • Newborn Screening Parent brochures (in English and Spanish) can be ordered at no charge from the Office of Newborn Screening and give parents contact information and a description of the newborn screening process.
  • Carriers for CF, hemoglobinopathies and some other disorders are identified:
    • CF and occasionally other carriers and hemoglobin traits are detected for every confirmed disease case detected, 8-10 carriers are identified.
    • Carrier information is important for the baby when grown and planning a family it should be recorded in the baby's medical record
    • Having a carrier baby should also prompt parents to check carrier status for both of them so that they know the chances of having an affected baby in a subsequent pregnancy. If a baby is a carrier it means that at least one of his parents is also a carrier but it is possible that both parents could be carriers and in that case they could have a baby with a disease.

Collect Acceptable Bloodspot Specimens

  • One large drop of blood per circle yields a uniform amount of blood in each punch for testing
  • Mother's name and DOB included – needed for matching specimens
  • Accurate contact information for mother – needed for notification of abnormal results

Ensure Timely Collection of Specimens

  • For well babies:
    • Ideal collection time for first screens is at 24-36 hours of age
    • Collect prior to transfer to another hospital or discharge
    • Medical home will collect second screen at the first outpatient visit or 5-10 days of age, whichever comes first
  • For NICU babies:
    • Ideal collection time for first screens is at 24-36 hours of age
    • Collect prior to factors that influence results even if earlier than 24 hours of age (transfusions, ECMO, therapies, parenteral feeding)
    • Collect prior to transfer to another hospital
    • If in hospital at 5 days of age, collect second screen between 5-10 days of age or before discharge, whichever comes first

Transport Specimens Promptly to the State Lab

  • Each specimen sent no more than 24 hours after collection or on the next business day (Hospitals may use their own couriers or free ADHS-provided FedEx overnight delivery. Other providers can send by mail or courier.)
  • Package sent each weekday (5 per week)
  • Friday package especially important for delivery on Monday so that no more than the weekend delays testing

Document Newborn Screening Results in the Medical Record

  • Verify that results of hearing screening and both bloodspot screens have been recorded in the baby's medical record
  • Medical home will have to ask for bloodspot results if their doctor's name was not on the collection kit
  • Newborn screening results should be noted in the NICU discharge summary sent to the medical home
  • To obtain newborn screening results, call 602-364-1409 or fax a request to 602-542-4099 for any missing reports

Follow-Up on any Abnormal Results

  • Phone call, fax or letter from newborn screening follow-up
  • Obtain further testing
  • Consult with a specialist, if needed
  • Obtain diagnosis or normal results
  • If a disorder is confirmed, refer to CRS or specialty care
  • Send copies of test results from other labs to the Office of Newborn Screening

Perform and Report Hearing Screening

  • Hearing screening should be done prior to discharge from the hospital—all babies should be screened by one month of age
  • Repeat screening as outpatient, if a referral
  • Unless high risk who go direct to a diagnostic test with an audiologist
  • Report all testing weekly to the Office of Newborn Screening
  • Include identifying information (mother's name and DOB to help match results and avoid duplicates in database)

Note: Files are PDF format unless otherwise stated.