Newborn screening is a public health initiative aimed at detecting treatable conditions as early as possible. Although these conditions are quite rare (collectively, about 1:1000), their consequences can be serious if they are not treated. With early treatment, the outlook is greatly improved, with most children developing normally. In Australia, every state offers this free testing to parents of all newborns and Victoria's program is funded by the Department of Human Services . additional funding is provided by the tasmanian government to test their population.
The newborn screening program in Victoria was initially set up in the mid 1960's to detect phenylketonuria (PKU), a genetic disorder in which the ability to metabolise phenylalanine is impaired. Without treatment these babies grew up to be severely intellectually disabled. With newborn screening, they are placed on a low phenylalanine diet and develop normally. It is possible to detect other conditions using the same dried blood spot samples and technological advances allowed us to subsequently introduce testing for hypothyroidism (1977), cystic fibrosis (1989) and MCAD deficiency plus a variety of other metabolic conditions (2002).
The Team
Laboratory Head
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For Further Information
For questions relating to consent for testing, retention or release of cards, please ask to speak to a counsellor on 03 8341 6201.