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We are pleased to announce that the screening for these five additional disorders will now continue at the screening sites until 31st August 2014.

Extension of the period of testing has required updating of the parent and professional leaflet to provide information on the new end date and the anticipated number of cases over the time period. The new leaflet (version 20) is available from the website now and participating organisations should have received a new batch of information leaflets from Harlow Printing during March 2014. Please can you ensure that copies of this leaflet are distributed to all midwives in your team, and that previous versions are destroyed.

Written and Audio translations have also been updated and can be accessed here.


Newborn bloodspot screening is used to identify babies who have rare but serious conditions.

We are piloting expanding newborn screening to include a further five rare conditions.

This website provides information for parents and professionals on the newborn screening process, the rare conditions which are being tested, and the research study.

I want to find out more about rare diseases

I want to find out more about the screening process

I want to find out more about the rare conditions that are being tested for:

I want to find out more about the research study