Newborn screening to be expanded in pilot study: UK


The number of genetic diseases for which newborn babies are tested is to double ...

Now an additional five debilitating disorders - all of them rare - will be tested for in five areas of England ...

The tests are performed by a midwife and they generally take place within the first week of life. The baby's heel is pricked and drops of blood are collected and analysed in a laboratory.

... At the moment five conditions are tested for: sickle cell anaemia, ... cystic fibrosis, ... phenylketonuria, congenital hypothyroidism and medium chain acyl-CoA dehydrogenase deficiency (MCADD).

The pilot scheme in Sheffield, Leeds, Manchester, Birmingham and London means 430,000 newborns a year will be also screened for:

Maple syrup urine disease Homocystinuria Glutaric acidaemia type 1 Isovaleric acidaemia Long chain fatty acidaemia

... "This pilot will identify more babies with serious conditions, giving them the chance to live a long, healthy life."

In NSW, babies are screened via the Newborn Screening Test, or the NSW Blood spot Test. This is a blood test that is done via a heal prick once the baby is 48 - 72 hours hold (but can be done after 24 hours).

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