Prepared by Jane Hibbert on behalf of the Regional ANCH Screening Teams Expanded Newborn Screening Pilot 16th July 2012 – 19th July 2013 NIHR CLAHRC for South Yorkshire

Expanded Screening Pilot To run from 16 th July 2012 to 19 th July 2013 Pilot will involve 6 Newborn laboratories:  Sheffield  Birmingham  London (GOS)  London (Guys & St Thomas’)  Manchester  Leeds Screening for an additional 5 inherited metabolic conditions

Purpose of Pilot When MCADD screening was introduced it was known that much rarer conditions would also benefit greatly from early detection. After careful consideration and discussion with the UKNSC and the HTA, it was agreed to undertake an evaluation of screening for an additional five very rare conditions. These specific conditions already form part of newborn screening programmes in both the USA and Europe.

Maternity Units involved Any maternity unit sending samples to any of the labs involved in the pilot:  Birmingham lab  Sheffield lab  GOS lab  Guys & St Thomas’ lab  Manchester lab  Leeds lab

The additional conditions The additional inherited metabolic disorders being screened for are:  Maple syrup urine disease (MSUD)  Homocystinuria (pyridoxine unresponsive) (Hcys)  Glutaric aciduria type 1 (GA1)  Isovaleric acidaemia (IVA)  Long chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

Information Information will be available for practitioners and parents in the form of a leaflet. Information will be disseminated prior to commencement of pilot. HCPs should give parents both verbal and written information (using the information leaflet) when they discuss NB screening at least a day prior to bloodspot sampling.

Education & Training Screening Midwives should discuss pilot with their managers and agree a dissemination of information plan. Consider attending midwifery team meetings/forums to explain pilot. Ensure all midwives/HCP are provided with the information leaflet and are aware that all parents must be given the leaflet.

Information Leaflets In first instance information leaflets will be sent to all maternity units sending samples to any of the 6 labs (sent to HOM or LCO depending on local arrangements). Further supplies can be ordered via Harlow Press.

Risks No additional blood sample is required. Imperative that a good quality sample is taken. Only risk is the anxiety caused by a false positive result which are very rare (around 1:20,000).

Declined Tests Parents are free to decline testing if they wish and it will not affect participation in screening for the other conditions which form part of the UK Newborn Screening Programme. Decline will need to be clearly indicated on the bloodspot card.

‘Not suspected’ results Parents receive their baby’s newborn screening results for PKU, CF, CHT, SCD and MCADD either by a ‘condition not suspected / normal results’ letter which is sent to parents in some areas or given via the health visitor. If results for conditions being screened as part of the pilot are also not suspected they will receive the same letter, although the extra five normal results will not be named individually.

Screen Positive Results Positive results are extremely rare for these conditions. They typically occur in between 1:100,000 to 1:200,000 births Anticipation that 16 cases / year identified in the UK (approximately 1:30,000 of those tested, or around two or three in a typical screening laboratory region) Parents will be contacted by the specialist clinical teams as per current arrangements

Funding All associated costs will be funded from the pilot i.e. lab costs, treatment costs etc. therefore no impact for commissioners/providers

Further Information Further information on the pilot and the conditions can be found at: