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Office of Newborn Screening

Healthcare Providers – Responsibilities

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.

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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

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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

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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

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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

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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

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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)

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