Madrid November 2011 - Enerca ‐HP Antenatal ‐LP ... 1130 (from antenatal data returns)1130 (from antenatal data returns) 1444 (from newborn data returns) Number of prenatal diagnoses

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


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


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


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


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


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




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


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


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


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


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


<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%)


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


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



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


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


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


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.


Contact detailsContact details

[email protected]

h // i h khttp://sct.screening.nhs.uk

Thank you very much!


Documents

Madrid November 2011 - Enerca ‐HP Antenatal ‐LP ... 1130 (from antenatal data returns)1130 (from antenatal data returns) 1444 (from newborn data returns) Number of prenatal diagnoses