Post on 10-May-2018
The Linked Antenatal and Newborn Sickle Cell and Thalassaemia screening programme for England:
Joan HenthornLaboratory Advisor
NHS Sickle Cell and Thalassaemia Screening Programme
Madrid
November 2011sct.screening.nhs.uk 1
November 2011
OutlineOutline
History and background to programmeHistory and background to programme
Community engagement
Materials
Results
Testing by DNA for transfused babies
Newborn outcomes projectNewborn outcomes project
sct.screening.nhs.uk 2
English national antenatal & newborn programmes
sct.screening.nhs.uk 3
History of Linked Newborn & Antenatal ProgrammeProgramme
2000 NHS Plan commitment to linked programme
2001 Programme Established £12,500 – world’s first linked antenatal and newborn screening programme
2003 Newborn implementation starts – ends 20062005 A l i l i d 20082005 Antenatal implementation starts ‐ ends 2008
2008 Start of quality improvement programme including PND2008 Start of quality improvement programme including PND outcome data collection
2009 Programme evaluation2009 Programme evaluation2010 Start of newborn and antenatal evaluation of outcomes
project
sct.screening.nhs.uk 4
Mission StatementMission Statement
•Support people to make informed choices•Support people to make informed choices during and before pregnancy
•Improve infant health through prompt identification of affected babies
•Provide high quality and accessible careProvide high quality and accessible care throughout England
•Promote greater understanding and awareness of the diseases and the value of screening
sct.screening.nhs.uk 5
A linked screening programmeA linked screening programme
• A programme where each step of the screening pathway informs the next stepg p y p
• A programme which recognises the lifelong relevance of the screening result as well as the genetic nature of the results
sct.screening.nhs.uk 6
Community Engagement
• Ministerially appointed Lay Chair
• Links to national voluntary sector & users –Links to national voluntary sector & users both represented on the Steering Group
W k i h i l d i l di• Work with regional and national media
• Lobbying in Parliament for national clinical y gnetwork for haemoglobinopathies –highlighting the inequalities and inequitieshighlighting the inequalities and inequities across England
sct.screening.nhs.uk 7
Materials for Health Professionals
b h db k d di i• Laboratory handbook ‐ second edition now available ‐ new edition in preparation
• UK forum paediatric clinical guidelines• Re‐issue of external authored parentRe issue of external authored parent
handbook for SCD• Programme Standards and Guidelines• Programme Standards and Guidelines
• www.sct.screening.nhs.uk/publications.htm
sct.screening.nhs.uk 8
sct.screening.nhs.uk 9
sct.screening.nhs.uk 10
Materials for the Public
• Parent handbook for SCD • Fact sheetsFact sheets • Integrated materials for pregnancy
N b i l fl t T l ti 28• Newborn carrier leaflets ‐ Translations – 28 Languages leaflets and/ or audiotapes
h lwhere relevant• Video – The Family Legacy – U Tubey g y
• www sct screening nhs uk/publications htmsct.screening.nhs.uk 11
• www.sct.screening.nhs.uk/publications.htm
Population screened
Year Newborn Antenatal‐ Total
Antenatal ‐ HP
Antenatal ‐ LP
07 08 666 060 522 582 305 686 216 89607‐08 666,060 522,582 305,686 216,896
08‐09 669,933 657,160 359,212 297,948
09‐10* 684,317 651,655 359,095 292,56009 0 68 ,3 65 ,655 359,095 9 ,560
* Provisional figures not yet published Provisional figures, not yet published
sct.screening.nhs.uk 12
Newborn Screen positive and carriers
Year Disease Carriers
07‐08 359 9452
08‐09 360 9624
09‐10* 361 9732
* Provisional figures not yet published Provisional figures, not yet published
sct.screening.nhs.uk 13
Antenatal Screen positive
Year
Total Partners At riskTotal Partners received
At risk couples
07‐08 14823 7272 819
08‐09 22377 10279 938
09‐10* 16341 9586 1130
* Provisional figures, not yet published
sct.screening.nhs.uk 14
PND data:Number of tests
Table PND‐1. Reported number of prenatal diagnoses (PNDs) by laboratory: 2004‐2010PND lab 2004/05 2005/06 2006/07 2007/08 2008/09 2009/10
King's 64 84 45 86 101 119Oxford 125 118 136 130 166 159UCLH 119 90 95 109 119 118Total tested 308 292 276 325 386 396
386 396
450
Fig. PND-1. Number of PNDs performed: 2004-2010
308292
276
325
386
300
350
400
form
ed
150
200
250
umbe
r of P
ND
s pe
rf
50
100
150
Nu
sct.screening.nhs.uk 15
02004/05 2005/06 2006/07 2007/08 2008/09 2009/10
PND data:Gestation Table PND‐2. Gestation at sample*: 2009‐10
PNDs performed
n (%)
<12 weeks 100 (26.0)<12 weeks 100 (26.0)
12+0 ‐ 12+6 weeks 99 (25.7)
13+0 ‐ 14+6 weeks 76 (19.7)
≥15+0 weeks 107 (27.8)
T l 385 (100)Total 385 (100)
*Excludes 11 cases where gestation at sample is unknown
Fig. PND-2. Gestation at sample (all labs): 2009-10
100 99
76
107
80
100
120
76
40
60
80
3
0
20
40
sct.screening.nhs.uk 16
<12 weeks 12+0-12+6 weeks 13+0 - 14+6 weeks 15+0 - 21+6 weeks ≥22+0 weeks*Excludes 11 cases where gestation at sample is unknown
Linked screening : using data to assess the programme
• Number of at risk couples: 1130 (from antenatal data returns)1130 (from antenatal data returns)1444 (from newborn data returns)
Number of prenatal diagnoses = 396
• at risk couples opting for prenatal diagnosis:• at risk couples opting for prenatal diagnosis:396/1130 (35%) or 396/1444 (27%)
sct.screening.nhs.uk 17
Possible reasons for low uptakePossible reasons for low uptake
Identified At risk couples
• Not offered screening and/or prenatal diagnosisg / p g
• Not offered EARLY prenatal diagnosis
N t ti t l di i / h i• Not accepting prenatal diagnosis/choice
At risk couples not identified
• Fathers not being offered appropriate screening• Fathers not being offered appropriate screening
• Fathers not attending for screening
sct.screening.nhs.uk 18
Arrangements for transfused babies
• Policy– Day 0 sample to be taken for babies admitted to y p
SCBU
• Failsafe• Failsafe– If this is not done or transfusion was intrauterine
h bl d l i d b DNA f hthe blood spot sample is tested by DNA for the sickle mutation only as a failsafe procedure
sct.screening.nhs.uk 19
sct.screening.nhs.uk 20
Newborn outcomes projectNewborn outcomes project
• With support of voluntary sector we have obtained permission to collect named data pwithout consent on babies with haemoglobinopthieshaemoglobinopthies.
• Audit antenatal screening
• Audit entry into care pathwayAudit entry into care pathway
• Collect mortality data
sct.screening.nhs.uk 21
Data so farData so far……
• 327 Screen positive babies327 Screen positive babies
97 9% i h NHS b• 97.9% with NHS number
• Clinical data now being sought
sct.screening.nhs.uk 22
ChallengesChallenges
• Timely prenatal diagnosis a challenge especially in the• Timely prenatal diagnosis a challenge especially in the absence of policy on preconception testing which would ideally cover a range of issues
• Awareness in men needs raising and partner follow‐up needs to be improvedneeds to be improved
• More efficient and co‐ordinated IT systems
• Ongoing community engagement important to ensure that programme delivery is appropriate to range ofthat programme delivery is appropriate to range of minority groups within England
sct.screening.nhs.uk 23
Th kThank‐you
To all those involved, known and not ,known, who have supported the
implementation and development ofimplementation and development of the programme thus far.
sct.screening.nhs.uk 24
Contact detailsContact details
haemscreening@kcl.ac.ukg
h // i h khttp://sct.screening.nhs.uk
Thank you very much!
sct.screening.nhs.uk 25