The Newborn Examination and Newborn Screening /

Day 3 Newborn Screening Tests

01 In Brief

All babies are offered a simple and reliable blood test a few days after birth to detect if they have a rare disorder that may be life threatening and /or cause intellectual disability. In all of the conditions the baby will benefit from early detection and treatment. Parents are not notified of a normal result and one per cent will need a second blood test. An abnormal result does not always mean that your baby has the condition further investigation is determined by established clinical guidelines. Conditions tested include Phenylketonuria, Congenital hypothyroidism, Cystic Fibrosis, Galactosaemia and rare metabolic conditions where dietary treatment and medications started early can minimise the risk of disability or death.

02 What Others Say

  • Victorian Clinical genetics service 

Newborn screening brochure and further information

Centre for Genetics Education /NSW Health

Newborn Screening for Genetic Conditions

03 I Want To Know More

  • Family Physician inquiries network

What are the causes of elevated TSH in a newborn

04 Clinicians Tools and Resources

  • Australian Paediatric Endocrine Group 

Guidelines for Management of Congenital Hypothyroidism

  • Medscape reference

Cystic fibrosis

  • Cystic fibrosis Mutation Data base

Cystic fribrosis Centre at Hospital for Sick Children


The information published here has been reviewed by Flourish Paediatrics and represents the available published literature at the time of review.
The information is not intended to take the place of medical advice.
Please seek advice from a qualified healthcare professional.
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Last updated: 24/11/2012 by Dr Elizabeth Hallam