Who we are: a brief overview

The NSW Newborn Screening (NBS) laboratory is the reference laboratory for newborn screening services for all babies born in New South Wales (NSW) and the Australian Capital Territory (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; and:



• 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 Programme 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.