File:Guthrie card.jpg

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NSW Newborn Screening Programme

Image shows the Bloodspot test or Guthrie card blood test.

Blood is generally collected by a neonatal heel prick and spotted into the 3 circles at the top of the card.

Each year test more than 90,000 babies and detects about 90 who need urgent assessment and treatment. In NSW and Victoria, the bloodspot cards are currently stored long term.

Links: Guthrie test | Neonatal Diagnosis | NSW Genetics Health

Phenylketonuria (PKU)

1 in 10,000 live births (about 10 babies per year). PKU causes high blood levels of phenylalanine and severe intellectual disability. A diet low in phenylalanine, started in the first two to three weeks results in normal development.

Primary Congenital Hypothyroidism

1 in 3,500 live births (about 26 babies per year). It is caused by the absence or abnormal formation or function of the thyroid gland. This causes growth and intellectual disability if not treated. Medication with thyroid hormone started early, results in normal growth and development.

Cystic Fibrosis (CF)

1 in 2,500 live births (about 34 babies per year). Without treatment babies develop chest infections and often have very serious failure to thrive. Early institution of treatment greatly improves the health of babies with CF. Newborn bloodspot screening detects about 95% of babies with CF but also detects a few babies who may only be healthy carriers. For these babies a sweat test at about six weeks of age determines whether the baby has CF or is a healthy carrier.


1 in 40,000 births (about 1-3 cases per year). Babies cannot process galactose, a component of lactose. Life-threatening liver failure and infections can occur. A galactose-free diet instituted in the first week is life saving.

Spinal Muscular Atrophy

In 2018 Spinal muscular atrophy (SMA) was added to the NSW Newborn Screening Programme. "In an Australian first, newborn babies are now being routinely screened for the genetic condition SMA, or spinal muscular atrophy". SMA leads to a loss of motor neurons and progressive muscle wasting and has several different forms: Type 1, Type 2, and Type 3a SMA.

Links: Spinal muscular atrophy | ABC News

Rarer metabolic disorders

Some fatty acid, organic acid and other amino acid defects can now be detected using Tandem Mass Spectrometry. These much rarer metabolic disorders affect about 15 – 18 babies per year. Early detection is important as diet and medications can treat most of these disorders. Without appropriate management they can cause severe disability or death.

Potential uses and access of stored bloodspots:

  • Identified cards may be used for family benefit or research and only with separate consent obtained before testing.
  • Non-identifiable cards (identifiers permanently removed) may be used for research approved by a Health Research Ethics Committee – consent is not required.
  • Parents have a right to access their child’s information. Other access requires parental consent except where there is a court order. To date this has not occurred.

Note that genetics services in NSW are coordinated by the NSW Genetics Service Advisory Committee, which is supported by the Statewide Services Development Branch of the Strategic Development Division, NSW Department of Health. (Information from NSW Health - Newborn Bloodspot Screening Policy 13-Nov-2006)

Links: Guthrie test | NSW Genetics Health

Cite this page: Hill, M.A. (2024, April 23) Embryology Guthrie card.jpg. Retrieved from

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G

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