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Newborn Blood Spot Screening Programme

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NORTHERN IRELAND Newborn Blood Spot Screening Programme SICKLE CELL DISORDERS (SCD) SCREENING INTRODUCTION E-TRAINING SESSION For more information (1 of 3) Regional ... – PowerPoint PPT presentation

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Title: Newborn Blood Spot Screening Programme


1
Newborn Blood Spot Screening Programme
NORTHERN IRELAND
  • SICKLE CELL DISORDERS (SCD) SCREENING
    INTRODUCTION
  • E-TRAINING SESSION

2
This 20 minute e-learning session has been
prepared for the following groups of staff
  • antenatal clinic midwifery
  • community midwifery
  • inpatient midwifery
  • neonatal nursing
  • inpatient paediatric nursing
  • health visiting and,
  • community paediatric nursing.

3
Trust Records of Staff Access
  • ALL staff accessing this e-learning session MUST
    ensure that they
  • Sign the training list located at the PC they
    have accessed, or
  • Inform their line manager (using the certificate
    provided at the end of this presentation, if
    requested), or
  • Inform the Trust Lead for Newborn Blood Spot
    Screening (see final slides for contact details)
  • IT IS IMPORTANT THAT EMPLOYING TRUSTS
  • MAINTAIN A RECORD OF ALL STAFF TRAINED.

4
Aims of this e-training session
  • By the end of this session you should have an
    understanding of
  • Sickle cell disorders (SCD)
  • When newborn SCD screening is being introduced in
    Northern Ireland
  • SCD transition arrangements
  • Changes to the N Ireland Consent Procedure
  • SCD Pre-transfusion Protocol
  • SCD Screening/Diagnosis and Clinical Referral and
    Clinical Management Pathways
  • SCD PROFESSIONAL GUIDANCE HAS BEEN DEVELOPED TO
    COMPLEMENT THIS TRAINING SESSION
  • N.B. your Trusts existing professional guidance
    on newborn blood spot screening continues to
    apply unless where otherwise stated in the
    Professional Handout document.

5
What is a sickle cell disorder? (1
of 2)
  • Sickle cell disorders are caused by inherited
    abnormalities of haemoglobin, the oxygen carrying
    protein found in red blood cells. In sickle cell
    anaemia (Hb SS) the abnormal sickle haemoglobin
    is less soluble than normal and causes deformity
    (sickling) of the red cells.
  • The red cells are more fragile than normal and
    tend to disintegrate (haemolyse) in the
    circulation leading to anaemia. When the red
    blood cells sickle they plug up the small blood
    vessels depriving the tissues of oxygen. This
    causes damage in tissues of the body including
    bones, nervous system, lungs and kidneys.

6
What is a sickle cell disorder?(2 of 2)
  • There are other types of inherited variant
    haemoglobin, which can interact with haemoglobin
    S to cause sickle cell disease. These include Hb
    SC, Hb SDPunjab and Hb SOArab.
  • A sickle cell gene can also be inherited
    with a beta thalassaemia gene. Sickle beta
    thalassaemia (Hb S/ß-thal) is a sickle cell
    anaemia syndrome and patients with this condition
    may suffer from either severe sickle cell disease
    or a milder form with less frequent sickling
    crises.
  • Hb SE disease and Hb S/HPFH, which are milder
    than the other sickle cell disorders, can also be
    identified within the UK newborn SCD screening
    programme.

7
What is SCD Trait? (1 of 3)
  • When a person inherits the Hb S variant gene
    from one parent only, they are able to make
    normal haemoglobin (Hb A) in addition to sickle
    haemoglobin (Hb S). In the majority of
    circumstances they have sufficient Hb A to permit
    the normal functioning of red cells.
  • People with this condition are described as
    having sickle cell trait and are healthy carriers
    of the sickle cell gene.

8
What is SCD Trait? (2 of 3)
  • The clinical significance of being a carrier
    of sickle haemoglobin is twofold. Firstly, in
    some situations a sickle carrier may experience
    problems because they do not get enough oxygen
    delivered to their tissues, e.g. during a general
    anaesthetic, at high altitude, during deep sea
    diving or if extremely dehydrated.
  • Secondly, a sickle carrier needs to know
    about the risks of passing on the sickle gene to
    their children when they grow up and want to
    start a family.

9
What is SCD Trait? (3 of 3)
  • The current policy of the SCD screening
    programme is to make parents and GPs aware of a
    childs carrier status when it is identified,
    thereby allowing individuals to be made aware of
    their carrier status in later life, so that they
    can take sensible precautions, such as
    maintaining good hydration levels at all times.
  • This is important information which should be
    recorded in the childs health records.

10
Incidence and Prevalence of SCD
  • In the UK sickle cell disorders are most
    commonly found in people of African and Caribbean
    descent. They are also seen in people from the
    eastern Mediterranean, the Middle East and India.
  • It is estimated that there are around
    10-15000 adults and children with sickle cell
    disorders in the UK at the present time. About
    140 babies with sickle cell anaemia (Hb SS) are
    born in the UK each year.

11

Symptoms and problems associated
with SCD
  • Although SCD is present from birth, symptoms
    are rare before the age of three to six months,
    due to the persistence of foetal haemoglobin (Hb
    F).
  • The main symptoms of SCD are episodes of
    anaemia, pain or infection. These are called
    sickling crises and may be more frequently
    experienced because of dehydration, strenuous
    exercise, infection, pregnancy and anaesthesia.
    Other difficulties include problems in the
    spleen, jaundice, strokes, leg ulcers, blood in
    the urine, eye, chest, hip and shoulder
    complaints and delay in growth.
  • Please refer to SCD Professional Guidance
    for more information about sickling crises and
    the long-term complications of SCD.

12
How is SCD or sickle cell trait
inherited? (1 of 2)
  • Where both parents haemoglobin types are
    known, one can identify the possible Hb genes a
    child will inherit. If both parents are carriers
    of the sickle cell gene there is a one in four
    chance that each of their children could be born
    with sickle cell anaemia. You may find the
    following diagram helpful when you explain how
    sickle haemoglobin is inherited.

13
How is SCD or sickle cell trait
inherited? (2 of 2)

14
Long-term treatment of SCD (1 of 2)
  • A number of measures are undertaken to maintain
    health and to try to avoid crises
  • Balanced diet, adequate fluid intake and
    avoidance of cold.
  • Regular folic acid supplements to replace loss by
    haemolysis.
  • Continuous oral penicillin (twice daily) to
    reduce risk of infection.
  • Prompt treatment of infections.
  • Full courses of routine childhood vaccinations,
    annual flu vaccination, hepatitis B vaccination
    at 12, 13 and 18 months and additional
    pneumococcal vaccination at 2 years and 5 yearly
    thereafter (Pneumovax).
  • Additional meningitis vaccination for travel to
    sub-Sahara Africa and Saudi Arabia.
  • Malaria prophylaxis when travelling to high risk
    areas.
  • Prophylactic regular blood transfusions for
    people at risk of severe complications such as
    stroke.

15
Long-term treatment of SCD (2 of 2)
  • The following treatments may be prescribed for
    particular associated problems
  • Hydroxycarbamide (hydroxyurea), a drug that
    affects red cell production, has a role in
    reducing the incidence of crises.
  • Analgesic drugs e.g. paracetamol, co-codamol,
    dihydrocodeine, tramadol and anti-inflammatory
    drugs are prescribed for bone pain and arthritis.
    Severely arthritic joints may be suitable for
    artificial joint replacement.
  • Skin ulcers are treated with regular debridement
    and dressings. They may improve with bed rest but
    often relapse, when skin grafting is undertaken
    with variable success.
  • Treatment of renal failure including renal
    transplantation may be necessary.
  • Bone marrow transplantation has the potential to
    cure the condition. However it has a relatively
    high mortality rate of 510 and is only suitable
    for some people.

16
How can newborn screening for SCD help?
  • The objective of the newborn screening
    programme for SCD is to detect infants at risk
    from SCD within the neonatal period, in order to
    allow early diagnosis and to improve outcomes
    through early treatment and care.

17
Strategic Context
  •  
  • DHSSPS circular HSS(MD) 30/2008
  • http//www.dhsspsni.gov.uk/hss-md-30-2008.pdf 
  • UK National Screening Committee policy
  • http//www.screening.nhs.uk/sicklecelldisease

18
When will newborn SCD screening be
introduced in N Ireland? (1 of 2)
  • Newborn SCD screening will be introduced in
    Northern Ireland from 5th March 2012, with a view
    to screening all infants born from 1st March
    2012-
  • The newborn screening laboratory will commence
    newborn SCD screening on all initial samples
    received from 5th March 2012
  • Test-takers should offer SCD as part of newborn
    blood spot screening for all screening
    offered/tests taken from 5th March 2012
  • Pre-transfusions tests should be taken for all
    infants born from 1st March 2012

19
When will newborn SCD screening be
introduced in N Ireland? (2 of 2)
  • It will be necessary for the laboratory to use
    live samples for a few weeks before
    implementation and the samples will be managed
    through the screening and diagnostic protocol.
  • However, as these live samples will be
    anonymised it will not be possible to clinically
    refer any infant requiring clinical follow-up.

20
Screening tests used for the detection of
SCD
  • Routine screening is offered as part of the
    newborn blood spot screening programme.
  • A specimen of dried blood, already collected on
    the Day 5 blood spot card is tested in the
    laboratory.
  • Haemoglobin variants can be detected through
    routine biochemical testing. Screening in N
    Ireland will involve the use of high-performance
    liquid chromatography (HPLC) instrumentation.
  • Where a variant is detected, confirmatory
    testing will be carried out (with blood from the
    Day 5 blood spot card), using isoelectric
    focusing (IEF) instrumentation.

21
Will newborn screening for SCD
detect any other disorders?
  • Newborn screening will identify infants who
    are carriers of other unusual haemoglobin genes
    as well as some infants who have a clinically
    significant or benign haemoglobin disorder.
  • All infants identified with haemoglobin
    variants will be referred to Paediatric
    Haematology/ Screening Nurse Services.

22
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23
Transfused Babies
  • As the presence of transfused blood in the
    neonate interferes with the interpretation of
    results from the haemoglobin analysis it is UK
    policy to take a blood spot sample for SCD
    screening (two spots on a blood spot card) BEFORE
    administering the FIRST blood transfusion.
  • This is known as the SCD pre-transfusion
    test and the SCD pre-transfusion blood spot
    protocol is illustrated on the next slides
  •  

24
Newborn SCD Pre-transfusion blood
spot protocol
25
Newborn SCD Pre-transfusion blood
spot protocol
26
SCD Pre-transfusion testing and
blood transfusion and testing for other
conditions
  • There continues to be the need for test-takers
    to allow a minimum time-interval of 72 hours
    post-transfusion before taking the first blood
    spot (or any repeat) sample for PKU, MCADD, CHT
    and/or CF screening.
  • In the event of multiple transfusions, the
    first blood spot sample MUST be taken on day 8,
    even where the time-interval from the last
    transfusion is less than 72 hours. Where this
    occurs, the newborn screening laboratory will
    contact neonatal/paediatric staff to request an
    appropriately-timed repeat sample.

27
If the pre-transfusion test is not taken
before blood transfusion
  • The test taker offering the day 5 test must
  • Inform the parent that DNA testing for the sickle
    gene, using blood collected on the Day 5 blood
    spot card, needs to be carried out.
  • Give the parental information leaflet about DNA
    testing (see SCD Screening Professional Guidance,
    Appendix 3, Addendum A) to the family.
  • Record blood transfusion clearly on the Day 5
    blood spot card before forwarding the card to the
    regional newborn screening laboratory.

28
N Ireland Blood Spot Consent Policy
  • The consent policy has been revised to
    include consent for newborn SCD screening. 
  • Parental consent is not required prior to
    taking an SCD pre-transfusion sample as the SCD
    Pre-transfusion card is stored and not tested in
    the laboratory until the Day 5 card is received.
    Where a pre-transfusion test has been taken,
    parental consent to SCD screening should be
    sought along with consent to other newborn blood
    spot screening on Day 5.
  • As for all other declines, declines to SCD
    screening should be clearly recorded on the top
    right hand corner of the Day 5 blood spot card.

29
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30
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31
N Ireland Blood Spot Pre-screening
Parental Information Leaflet
The revised pre-screening leaflet should be given
to all pregnant women by 30 weeks GA and reissued
to the parents following delivery, before day
5. Supplies of the revised leaflet should be
with Trusts by the end of January 2012 for
circulation to staff. Translations of the
pre-screening leaflet are available to download
from the following website

http//www.publichealth.hscni.net/publications/new
bornbloodspot
32
Communicating SCD screening results to
parents
  • Conclusive results for SCD screening are
    reported in the same format as all other newborn
    blood spot screening results as follows
  • 04 SCD not detected
  • 05 carrier of sickle cell
  • 06 carrier of other haemoglobin
  • 07 SCD not detected other disorder follow-up
  • 08 SCD suspected
  • 10 SCD not detected no other Hb/thal
    excluded
  • New codes

33
Communicating SCD screening results to
parents (contd)
  • Health visiting staff will routinely inform
    parents about
  • 04 SCD not suspected
  • 10 SCD not detected no other Hb/thal excluded
  • All other conclusive results will be communicated
    to parents via the Paediatric Haematology and
    Screening Nurse Services and other than not
    suspected results will not be released until the
    services have been in contact with the family.

34
For more information (1 of 3)
  • Regional newborn blood spot screening laboratory
    lead
  • Dr Jennifer Cundick , Principal Clinical
    Scientist
  • Newborn Screening Laboratory
  • Kelvin Building
  • Royal Victoria Hospital
    Telephone No.
  • Grosvenor Road
    9063 3064
  • Belfast BT12 6BB
    9063 4096
  • Email Jennifer.Cundick_at_belfasttrust.hscni.net
    (not for urgent communication)
  • Regional newborn blood spot screening nurse
  • Claire Brannagan
  • Royal Belfast Hospital for Sick Children
    Telephone No.
  • 180 Falls Road 9063 4243
  • Belfast BT12 6BE
  • Email Claire.Brannagan_at_belfasttrust.hscni.net
    (not for urgent communication)

35
For more information (2 of 3)
  • Regional newborn screening programmes PHA lead
  • Dr Carol Beattie
  • Public Health Agency Telephone No.
  • 12/22 Linenhall Street (028) 90553757
  • Belfast BT2 8BS
  • Email Carol.Beattie_at_hscni.net (not for
    urgent communication)
  • Regional newborn screening programmes
    co-ordinator
  • Georgie Clawson
  • Public Health Agency Telephone No.
  • 12/22 Linenhall Street (028) 90 553757
  • Belfast BT2 8BS
  • Email Georgie.Clawson_at_hscni.net (not for
    urgent communication)

36
For more information (3 of 3)
  • UK Newborn Screening Programme Centre
  • www.newbornbloodspot.screening.nhs.uk
  • About regional blood spot screening programmes
  • www.publichealth.hscni.net/publications/newbornblo
    odspot
  • The Sickle Cell Society
  • www.sicklecellsociety.org
  • UK Thalassaemia Society
  • www.ukts.org

37
Local contact points -Trust blood
spot Leads
  • Belfast HSCT
  • Ruth Clarke
  • Telephone (028) 90 632291
  • Email ruth.clarke_at_belfasttrust.hscni.net
  • Northern HSCT
  • Sinead OKane
  • Telephone (028) 94 424600
  • Email sinead.okane_at_northerntrust.hscni.net
  • Southern HSCT
  • Vera Kelso
  • Telephone (028) 37 522381 ext 2353
  • Email vera.kelso_at_southerntrust.hscni.net

38
Local contact points Trust blood spot
Leads
  • South Eastern HSCT
  • Zoe Boreland
  • Telephone (028) 92 665141 ext 2581
  • Email zoe.boreland_at_setrust.hscni.net
  • Western HSCT
  • Anne Marie McGurk
  • Telephone (028) 71 345171 ext 4194
  • Email annemarie.mcgurk_at_westerntrust.hscni.net

39
Notification of Access to
E-Learning for newborn SCD screening
  • For the purposes of maintaining Trust training
    records I have undertaken and achieved the
    identified aims of this E-learning session and
    have access to the complementary guidance
    discussed during the session.
  • SIGNED ____________________________ DATE
    _________
  • PRINT NAME ______________________________________
  • (if requested, please print, complete and return
    this page to your
  • line manager as soon as possible and keep a copy
    for your own
  • records)
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