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

(Shelagh.Garnett@northwest.nhs.uk)

Sandra Smith – NW Antenatal, Newborn & Child Health Screening Lead

(Sandra.Smith3@alwpct.nhs.uk)

Rebecca Al-Ausi – NW Antenatal, Newborn & Child Health Screening Manager

(Rebecca.Al-Ausi@alwpct.nhs.uk)

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

Sandra.Smith3@alwpct.nhs.uk

Rebecca Al-Ausi

NW Antenatal, Newborn & Child Health Screening Manager

(Deputy)

01942 481698

07810 506043

Rebecca.Al-Ausi@alwpct.nhs.uk

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