Prepared by Jane Hibbert on behalf of the Regional ANCH Screening Teams

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Expanded Newborn Screening Pilot16th July 2012
19th July 2013
Prepared by Jane Hibbert on behalf of the
Regional ANCH Screening Teams
NIHR CLAHRC for South Yorkshire
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Expanded Screening Pilot

• To run from 16th July 2012 to 19th 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

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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.

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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

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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)

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Information
Information will be available for practitioners
and parents in the form of a leaflet. Informatio
n 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.
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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.

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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.
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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
  120,000).

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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.
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Not suspected results
Parents receive their babys 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.

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Screen Positive Results
Positive results are extremely rare for these
conditions. They typically occur in
between 1100,000 to 1200,000 births
Anticipation that 16 cases / year identified
in the UK (approximately 130,000 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

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Funding

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

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Further Information
Further information on the pilot and the
conditions can be found at www.expandedscreening.
org