Menkes Australia

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Home Newborn screening

Newborn Screening

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The newborn screening program in Australia is a publically funded program for testing newborn babies' blood for approximately 30 rare conditions. It was introduced in the late 1960s and is an accepted part of neonatal health in developed countries to detect rare metabolic conditions. Some of these conditions can result in physical or intellectual problems if not treated shortly after birth and are commonly known as inborn errors of metabolism.

The aim of newborn screening (NBS, commonly referred to as the newborn heel prick test) is to detect conditions before the onset of symptoms so that treatment can commence and the effects of the condition can be minimised.

The conditions tested for include phenylketonuria (PKU), congenital hypothyroidism, cystic fibrosis (CF), galactosaemia and a number of other extremely rare conditions.

The screening program involves all newborn babies, whether they show obvious symptoms of the conditions or not and overall 1 out of every 1000 babies tested will be diagnosed with a condition as a result of the NBS.

In Australia, approximately 99% of parents agree to have their babies screened as part of the NBS.

For more detailed information about the NBS see here.

Menkes Disease and the NBS:

As early diagnosis and copper treatment is essential in improving outcomes for children with Menkes Disease, it is Menkes Australia's belief that Menkes Disease should be added to the NBS program. Currently, unless there is a family history of the disease it is almost never picked up during the newborn period due to both it's rare nature and the absence of many obvious clinical symptoms.

Recent advances in finding a reliable newborn screening test are seemingly very promising. Menkes Australia is committed to establishing newborn screening for Menkes in Australia, and as such will seek to keep abreast of developments in this area.

Please check back for updates in this area.


Last Updated on Sunday, 30 January 2011 21:42