Additional screening for babies

Photo: Carsten Fonsdal Mikkelsen (flickr)

AS from this week, babies will be screened for additional medical conditions following a pilot study run in the UK.

Additional screening will be applied in Gibraltar at the same time as the UK, given that the Gibraltar Health Authority’s (GHA) Department of Pathology has been involved in the study since 2012.

The study was run by Sheffield Children’s NHS Foundation Trust for the testing of heel prick samples, taken from all babies between five and eight-days-old, for certain extra genetic conditions in addition to those already checked.


The extra conditions which will now be also tested are for maple syrup urine disease, homocystinuria, glutaric acidaemia type 1 and isovaleric acidaemia.

These are all inherited conditions where babies have problems breaking down amino acids, the ‘building blocks’ of proteins.

The GHA has stressed that these are rare conditions and that Sheffield Children’s NHS Foundation Trust found only 20 confirmed cases of the four extra conditions among the 700,000 babies that were tested.



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