Newborn screening results

 

Where no further testing is required

  1. For the majority of babies, no condition will be suggested by newborn screening.
  2. Parents and doctors are not notified of ‘normal’ results.
  3. Screening does not detect all affected babies, and therefore symptoms in a child warrant further investigation.
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Where further testing is required

  1. Parents will be notified if follow-up testing is required.
  2. Follow-up testing will be required either because there was a problem with the initial blood sample or because one result was abnormal or borderline.
  3. About 1 to 2% of babies tested require repeat or subsequent diagnostic testing.
  4. The majority will receive ‘normal’ results in which case their doctor will be sent the result.
  5. For metabolic conditions and congenital hypothyroidism, a rapid response to the screening result is necessary as delay in diagnosis increases morbidity.
  6. Treatment, counselling and support are provided free of charge by the services associated with the
    Newborn Screening Services in each State or Territory.
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Policies governing conditions included in newborn screening

  1. The Newborn Screening policy developed jointly by the Human Genetics Society of Australasia and the
    Division of Paediatrics of the Royal Australasian College of Physicians recommends that a condition should be included in newborn screening, provided that:
  2. There is benefit for the individual from early diagnosis (ie early treatment/intervention is beneficial)
  3. This benefit is reasonably balanced against financial and other costs
  4. There is a reliable screening test available
  5. There is a suitable system in place to deal with diagnostic testing, counselling, treatment and
    follow-up of patients identified by the test
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