NSW Newborn Screening Program

The purpose of newborn screening is to test all newborns for a number of treatable genetic metabolic disorders. Each year the Program tests more than 90,000 babies and detects about 90 who need urgent assessment and treatment.

Newborn screening tests are free. The tests are not compulsory, and parents may refuse the test on behalf of their baby, but this could unnecessarily risk the baby's health.

What we test for

The laboratory is committed to delivering a quality service in all aspects of newborn screening equal to the highest international standard. The laboratory is accredited by the National Association of Testing Authorities, Australia (NATA) and has ISO 15189.

We test for:

  • Phenylketonuria
  • Congenital hypothyroidism
  • Cystic fibrosis
  • Galactosaemia
  • Aminoacidopathies
  • Organic acidaemias such as Homocystinuria (cystathionine synthase deficiency), Maple Syrup Urine Disease (MSUD), Tyrosinaemia types I and II, Urea cycle disorders
  • Fatty acid oxidation defects, such as Medium-chain acylCoA dehydrogenase (MCAD) deficiency and other fatty acid oxidation disorders

Read more information about these disorders and the tests used in Disorders we test for.

     

Our laboratory

The NSW Newborn Screening (NBS) laboratory is the reference laboratory for newborn screening services for all babies born in NSW and the ACT. Our main business is to provide:

  • tests to detect certain metabolic disorders in apparently healthy babies, so that treatment can be started before the baby gets sick and before permanent damage is done
  • a system to ensure confirmation of results, counselling, treatment and follow-up for babies whose results suggest a metabolic disorder. The confirmation of results includes arranging for samples to be sent to the NSW Biochemical Genetics Service.

Testing for Phenylketonuria began in 1964 and by 1973 all babies in NSW were tested. Testing for congenital hypothyroidism began in 1977, and cystic fibrosis in 1981. We took over the testing of babies born in the Australian Capital Territory (ACT) in 1983 and started galactosaemia screening in that year. Over the years there have been a number of pilot programmes to investigate the benefits or need to screen for such disorders. In 1998 we began to use a new technology, tandem mass spectrometry (MSMS). This enables us to test all newborns for over 30 additional metabolic disorders.

The NBS Programme is a state-wide service managed by the Clinical Director, and by the Principal Scientist who is responsible for all laboratory services. The Program is overseen by an advisory committee which is a sub-committee of the NSW Health Department's Genetic Services Advisory Committee.

Newborn screening tests are offered to all babies born in NSW and the ACT. A blood sample is collected from the heel of babies usually at 48 to 72 hours onto pre-printed filter paper cards supplied by the laboratory. Collection occurs at maternity units, early childhood and community health centres or by midwives attending home births. The laboratory supplies detailed instructions on collection procedures.

The dried blood samples are forwarded to the NBS laboratory by mail or by courier. Approximately 98,000 dried blood spot samples are received from approximately 94,000 babies per year. On average, 400 samples are tested each working day.

Contact us

Hours of service:

We're open from 8:30am to 5:00pm Monday to Friday. We provide emergency call-back when required.

Call us on:

General number: 9845 3659 
Clinical nurse consultant: 9845 3255 
Fax: 9845 3800 
Principal Scientist: 9845 3256 
Clinical Director: 9845 3452

We're located at:

Building 5 (Diagnostic Services Block)
Level 1, The Children's Hospital at Westmead,
Hawkesbury Road
Westmead NSW 2145

Our postal address is:

NSW Newborn Screening Program
Locked Bag 2012
Wentworthville NSW 2145

Our staff

The NSW Newborn Screening Program is a multidisciplinary team. In October 2016 the staff were as follows.

  • Principal Scientist/Director: A/Prof Veronica Wiley
  • 2IC Senior Hospital Scientist: Won-Tae Kim (Tiffany Wotton on maternity leave)
  • Clinical Nurse Consultant: Rosie Junek
  • Safety Officer/Hospital Scientist: Daphne Heath
  • Data Co-ordinator: Carol lim
  • Hospital Scientists: Bita Behrady, Kala Domadia, Roslyn Esber, Maria Germanos,
  • Tim Hill, Fei Lei, Sheila Therese
  • Technical Assistant: Maxwell Kirby
  • Secretary: Crystyna Smith
  • Administrative Officers: Sonia Safi, Uma Srinivas

Resources and info sheets