In Australia it’s known as the Newborn Screening (NBS) test, in the UK, the newborn blood spot screening test, elsewhere as the Guthrie Tests. A lot will know it simply as the heel-prick test.

The heel-prick test involves a quick blood sample being taken from the heel of a newborn baby between 48 and 72 hours of birth and checked for and is used to test for cystic fibrosis, hypothyroidism, phenylketonuria (PKU), and a host of other conditions.

Invented in 1962, by Dr Robert Guthrie, the NBS was first introduced to Australia in 1964 and has undergone a continual evolution over its lifetime, as medical research and technology has advanced.

The NBS was first used to detect PKU, then hypothyroidism was added in the early 1970s. In 1981 Cystic Fibrosis was added.

After the introduction of Tandem mass spectrometry by the NSW Health Department in 1997, the NBS test was able to screen for another 30 metabolic disorders. Last year, congenital adrenal hyperplasia was added to the list.

More than half the babies born in the world today still receive no screening. It’s a sad figure, but in Australia, we have an excellent screening program for all babies born here.

The development of pharmacogenetics and new drugs to treat specific forms of genetic disorders means more effective screening and earlier treatment paths.

The post Royal baby faces first test in less than 48 hours first appeared on Know Pathology Know Healthcare.