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NHS Blood Spot Screening Programme
Marie Coughlin Screening Lead
July 26th 2010
Today’s Session Fourth of 6 Antenatal & Newborn sessions throughout
2010
Reasons for Today’s Session
As a result of ChaMPs commissioned review of screening
A need to further engage public health in Antenatal & Newborn Screening Programmes
At the request of public health screening leads
Part of C&M Screening Action Plan
Thought it useful to invite commissioners also
Aim of the Session
To increase knowledge base within public health and commissioning
Session Format
Overview of UK NSC/NWSHA structure
Overview of Newborn Blood Spot screening
Review of patient pathway
Data, performance and QA
Future developments
Questions/comments
Overarching Structure
UK NSC oversees 6 Antenatal & Newborn Screening Programmes
UK NSC has defined accountability & governance structure for SHA, PCT and provider
Warm welcome to NWSHA team – Rebecca Al-Ausi & Sandra Smith
North West Screening Team
Shelagh Garnett – SHA Screening Lead
Sandra Smith – NW Antenatal, Newborn & Child Health Screening Lead
Rebecca Al-Ausi – NW Antenatal, Newborn & Child Health Screening Manager
Newborn Blood Spot Screening
UK Newborn Screening Programme Centre established in 2002
Centre responsible for providing UK-wide quality assured Newborn Blood Spot Screening Programme
Emphasis on patient choice as opposed to uptake rates
Objective to create focus and identity for newborn blood spot services
Objective to ensure equality of access & reduction of health inequalities
Programme Aims
To offer informed choice 95% of first samples to be taken 5-8 days after birth 100% of samples to be received by Lab within 4 working
days of being taken 95% of blood spot cards to include bar-code label &
NHS number Positive results available and referral initiated within 3-4
working days of sample receipt by Lab 100% of babies untested to be identified by 19 days of
age
Patient Pathway
Newborn Blood Spot
5 Conditions
Referral
processes
Pathway
Conditions Screened
Congenital hypothyroidism (CHT)
Phenylketonuria (PKU)
Cystic fibrosis (CF)
Medium Chain CoA Dehydrogenase Deficiency (MCADD)
Sickle Cell (and thalassaemia) SCD
Congenital Hypothyroidism
Unable to produce thyroxine
1:4000 births (150pa)
2.3/1 ♂/♀ ratio
Early diagnosis
CHT Pathway
Repeat sample ASAP
Home visit
Referral and treatment by day 21-28
Commence thyroxine
Successful IF commenced early
PKU
Inherited metabolic condition
Prevents normal breakdown of protein
Impaired brain function
Successful dietary treatment
Normal life expectancy
Incidence = 1.14/10,000 Caucasian
0.11/10,000 Black
0.29/10,000 Asian
PKU Pathway
Screen positive/suspected
Home visit
Paediatric referral day 21-28
Effective dietary treatment
Cystic Fibrosis
Most common life threatening inherited disorder
Affects internal organs
Life expectancy = 38yrs
Early treatment essential
Carrier rate = 1 in 25
1 in 2,500 born per year = 5/week
3 die/week
CF Pathway
Repeat sample day 21-28
Specialist referral 24 hrs
Carrier result
Results to CHRD
MCADD Inherited metabolic disorder Deficient enzyme used for energy transfer Neurological symptoms/damage Fatal 1 in 100 SIDS 1 in 10,000 babies born per year 1 in 80 carrier rate
MCADD Pathway
Laboratory informs primary care of result
Face to face contact within 24 hrs
DNA testing obtained
Information given
Result within 5 working days
Referral within 24 hours
Effective dietary treatment
Sickle Cell Disorders
Inherited disorder
Abnormal haemoglobin
Affects oxygen carrying capacity
Malarial origins
1 in 2,400 births
12,500 have disorder
240,000 carriers
SCD
SCD Conditions HbSS
HbSC
HbSD
HbS/β thalassaemia (β+, β0, δβ, Lepore),
HbS OArab
HbS/HPFH
SCD Pathway
Face to face visit
Repeat request
Results by 28 days
Specialist referral
Commence treatment
Child Heath Records Department(CHRD)
Hold information on each child
Monitor offer, uptake and coverage
Report normal results
Identify missing results/babies
Pathway
Contact details
Sandra Smith
NW Antenatal, Newborn & Child Health Screening Lead
(Coordinator)
01942 481709
07901 517252
Rebecca Al-Ausi
NW Antenatal, Newborn & Child Health Screening Manager
(Deputy)
01942 481698
07810 506043
http://www.screening.nhs.uk/bloodspot-england
The Newborn Blood Spot
Data & Performance
Trusts required to produce annual report – difficult to obtain copies
UK Newborn Screening Centre produce an annual report – Details on next few slides
Laboratory Denominator Data 2008/9
Enhanced Tracking Abilities 2008/9
Timely Sample Collection 2008/9
Timely Sample Dispatch
Liverpool Lab Screening Numbers 2008/9(cards without NHS number – 4,087)
Avoidable Repeat Rates 2008/9
Quality Assurance
Limited QA process in place, mostly with QA of Laboratories
Focus will be on timeliness of testing & follow-up
NWSHA team to develop comprehensive QA programme
Key Challenges for the Programme
Many samples for transfused babies not being taken
Poor quality of samples received by Lab leading to high repeat rate
Newborn Label Project; difficult to obtain local IT support
Future Developments
Bar-code project
Comprehensive QA processes
Questions/Comments
With regard to QA, how do we assure our Boards that local programmes run satisfactorily?
Set of recommendations re Trust data issue for all 6 programmes has been submitted to C&M DsPH and DoCs
Thank You
