Acute Services Directorate (Integrated Midwifery and Women’s Health Division) Children & Young People’s Directorate Procedure for Newborn Bloodspot Screening Programme Author Newborn Bloodspot Quality Management Group members – Vera Kelso, Marianne Norris, Ruth Carroll, Una Toland, Valerie Doyle & Carol Murphy Directorate responsible for this Document Acute Services Directorate and Children and Young People Directorate Date of Implementation December 2011 Date of Review December 2013 Screened by Screening Document Reference Number Approved by (Signature)
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Acute Services Directorate (Integrated Midwifery and Women’s Health Division)
Children & Young People’s Directorate
Procedure for Newborn Bloodspot Screening Programme
Author Newborn Bloodspot Quality Management Group members – Vera Kelso, Marianne Norris, Ruth Carroll,
Una Toland, Valerie Doyle & Carol Murphy
Directorate responsible for this Document
Acute Services Directorate and Children and Young People Directorate
Date of Implementation December 2011
Date of Review December 2013
Screened by
Screening Document Reference Number
Approved by (Signature)
2
Acute Services Directorate/Children & Young Peoples Directorate
Procedure/Guidelines/Protocol Checklist & Version Control Sheet
1 Name of Procedure/Guidelines/ Protocol:
Procedure for Newborn Bloodspot Screening Programme
2 Purpose of Procedure/Guidelines/ Protocol:
To ensure that all newborn babies born to SHSCT residents are offered newborn bloodspot screening:
4 Applicable to which staff: All Midwifes, Paediatric Nurses Health Visitors, Child Health System Staff
5 Name & Title of Author: Newborn Bloodspot Quality Management Group members - Vera Kelso, Marianne Norris, Ruth Carroll, Una Toland, Valerie Doyle & Carol Murphy
6 Equality Screened by: Note any Issues
Newborn Bloodspot Quality Management Group
7 Proposals for dissemination: Through team meetings and nursing and midwifery governance forums Reference in Staff E Brief
8 Proposals for implementation: Awareness sessions for stakeholders
9 Upload to Trust Intranet
10 Training Implications: New staff, induction and 3yrly update
11 Date Procedure/Guideline/Protocol Submitted to Procedure Committees:
December 2011
12 Outcome: Approved
3
Approved/Minor amendments
Not approved
Deferred
13 Date of CYP SMT approval Comments:
14 Date approved by Trust SMT(if required):
15 Date approved at Statutory Monitoring Committee (Social Work only)
16 Date for further review (3 year Default)
17 Date added to repository:
18
Date added to Intranet: State where to be placed on intranet:
Policies and Procedures Acute Services Policies and procedures Children and Young People’s Directorate – Health Visiting & School Nursing Procedures
18 Date added to Intranet: State where to be placed on intranet:
-
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CONTENTS
1.0 Introduction
2.0 Purpose
3.0 Scope
4.0 Roles and Responsibilities
5.0 Procedure for Initial Newborn Bloodspot Screening
6.0 Repeat Newborn Bloodspot Screening
7.0 Preterm Congenital Hypothyroidism (CHT) i.e. GNEO
(Gestational Neonate)
8.0 Special Circumstances – Babies Nursed in Neonatal Units,
Special Care Baby Units or Paediatric Wards
9.0 Management of Movement – In Infants and Up to One Year of
Age
10.0 Informing Parents/Person with Parental Responsibility of
Bloodspot Screening
11.0 Family History of Medium Chain ACYL-coA Dehydrogenase
Deficiency (MCADD) and Phenylketonuria (PKU)
12.0 Clinical Referral Initiated
13.0 Northern Ireland Bloodspot Failsafe Protocol
14.0 Equality and Human Rights Consideration
15.0 Legislative Compliance, Relevant Policies, Procedures and
Guidance
16.0 Conclusion
17.0 References
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18.0 Appendix A Glossary of Terms
19.0 Appendix B – Care Pathway for MCADD Family History
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1.0 INTRODUCTION
The Southern Health and Social Care Trust (SHSCT) aims to respond to the health
and social care needs of its population by providing high quality, accessible
services, which meets individual and family needs.
1.1 Currently in Northern Ireland newborn bloodspot screening is offered for
Homocystinuria, Tyrosinaemia and Medium Chain Acetyl CoA Dehydrogenase
Deficiency (MCADD). From April 2012 screening for Sickle Cell Disorders will be
added to the bloodspot programme.
2.0 PURPOSE
The purpose of this procedure is to ensure that all babies resident in the Trust up to
1 year of age are:
Offered newborn bloodspot screening at Day 5 following birth
Movement in infants who become resident in SHSCT up to one year of age,
are followed up to ensure they have been offered the newborn bloodspot
screening programme and
Relevant parental support and education will be provided to facilitate consent
and participation in the programme.
2.1 The early detection through screening, referral, diagnosis and treatment of those
babies found to be at high risk is essential. This will improve the health outcomes of
those babies in order to prevent severe disability or even death.
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3.0 SCOPE
Screening is offered to all live born infants resident in the SHSCT area between the
age of 5 days and 1 year.
3.1 This extends to include:
Resident infants who are inpatients in hospitals outside the SHSCT area
during the neonatal period;
Non-resident infants who are inpatients in a neonatal unit in a SHSCT
hospital
Infants who are temporarily resident in the SHSCT area during the neonatal
period , and
Infants who move into the SHSCT area by 1 year of age with no record or
incomplete record of screening results
3.2 In particular circumstances the bloodspot screen will be offered before Day 5 i.e.
where the infant has an identified family history of PKU/ MCADD.
4.0 ROLES AND RESPONSIBILITIES This procedure applies to all staff involved in the provision of the newborn
bloodspot screening programme.
4.1 Various professional groups are involved in the screening process: midwives,
neonatal nurses, paediatric nurses, health visitors, community children‟s nurses,
Child Health System and Laboratory staff. The following section outlines the roles
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and responsibilities of those involved in the implementation of the newborn
bloodspot screening programme.
4.2 Midwifery Staff
Midwifery staff is responsible for offering newborn bloodspot screening, obtaining
consent and undertaking tests within the neonatal period until care is transferred to
the health visiting service.
4.3 Neonatal Nursing Staff
Neonatal nursing staff are responsible for offering newborn bloodspot screening,
obtaining consent and undertaking tests and when required repeat samples for
babies within the neonatal unit. If neonatal staff is informed of a positive result while
an infant is an inpatient in the neonatal unit, they will contact the community
midwife / health visitor as appropriate.
4.4 Children‟s Ward Nurses
The Children‟s Ward Nurse in Charge is responsible for ensuring that newborn
bloodspot screening and repeat samples are carried out at the appropriate time for
babies (up to one year of age) who are inpatient in the Children‟s Wards.
4.5 Health Visitors
At the new baby review (new birth visit) the health visitor is responsible for reviewing
the PCHR to ensure the newborn bloodspot screening has been offered. This
includes newborn babies resident in the SHSCT and those up to one year of age
who move into the Trust area. This will be documented as either date taken or date
declined on the community midwives discharge page.
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When a baby‟s care is transferred to the health visiting service the health visitor is
responsible for repeat bloodspot screening as initiated by the child health system
staff. If any repeats have to be carried out at the weekend or bank holidays the
health visitor will arrange with the community midwifery service to carry this out.
Health Visitors will provide feedback to parents/person with parental responsibility
about the test outcomes by the 6-8 week review. Prior to this review, it is the
responsibility of the health visitor to ensure there are written test results filed in the
child„s health visiting records and the personal child health record (PCHR).
4.6 Child Health System Staff (CHS)
The Child Health System staff will record results on the CHS and will notify the
appropriate Community Midwifery Team Leader or appropriate Health Visiting Team
Manager of any infant who requires a repeat sample. CHS staff will identify
any missing or incomplete results and will follow up accordingly using the “Failsafe
Protocol”.
4.7 Ward / Team Managers
Following notification from the CHS staff, the Trust Lead/or appointed Deputy the
Ward / Team Managers are responsible for alerting the appropriate nurse / midwife /
health visitor to follow up the identified infant to ensure the newborn bloodspot
screening programme is offered and where consent provided the test / repeat
sample will be carried out. Ward / Team Managers will inform the CHS staff and
Trust Lead of any difficulty in accessing infant‟s which require the newborn bloodspot
screening test (initial and repeat). The Test taker will ring and inform the CHS staff to
inform when test has been taken.
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4.8 Trust Lead/ or appointed deputy for the Newborn Bloodspot Screening
Programme
The Trust Lead/or appointed deputy for the Newborn Bloodspot Screening
Programme is responsible for:
Chairing the Trust Quality Improvement Group,
Reviewing the weekly failsafe report and following up any infants with
incomplete or missing results with the appropriate Ward / Team Manager,
Advising CHS Staff to remove a child from the weekly failsafe notification in
special circumstances,
Management of the movement in children from the Republic of Ireland,
Identifying and reviewing adverse incidents,
Notifying the Public Health Agency of adverse incidents and leading
subsequent reviews, and
Leading on developments of the newborn bloodspot screening programme.
5.0 PROCEDURE FOR INITIAL NEWBORN BLOOD SPOT SCREENING
The test must be taken on day 5, the date of birth counted as day 0. All babies
should have a repeat sample taken when they are 36 completed weeks
equivalent gestational age unless they had already reached that age at the time
of the first test or within 72 hours of the child reaching 36 weeks gestational age
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5.1Calculation of infant’s age:
Date of birth = Day O (regardless of whether the infant is born before or after
midday for e.g.
DOB 10 December Day 0
11 December Day 1
12 December Day 2
13 December Day 3
14 December Day 4
15 December Day 5
5.2 The infant‟s gestational age must always be recorded in weeks and days (this must reflect the accuracy of the baby‟s gestational age) for e.g. 38weeks + 5 days on the:
Newborn Bloodspot Screening card
NIMATS record
Birth notification form (CHS1)
Maternal(CHS3a) / Neonatal(CHS3b) discharge forms
5.3 Preparation for taking the bloodspot sample
It is important to offer parents informed choice about screening and to prepare them
for the bloodspot procedure.
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5.3.1 The parental pre-screening information leaflet will be given by the midwife and
discussed in pregnancy at 29 weeks and again at least 24 hours prior to the test, to
enable the parents to make an informed choice. The leaflet will be made available in
alternative languages/formats to meet the needs of those not sufficiently fluent in
English or who may have a disability. This should be recorded in the
Maternity/Midwifery/ infant hospital records and the PCHR. It must be recorded
that the newborn blood spot screening has been discussed and recommended,
leaflet provided and verbal consent gained.
Suggested recording: “Newborn bloodspot screening performed with parental
consent”
5.4 Parental Decline
If a parent/person with parental responsibility declines some or all of the tests, it is
recorded in the maternity records/infant hospital records/ PCHR, and on the newborn
bloodspot card.
Suggested recording:
”Parent declined all / or part of *named test’s bloodspot screening.
9.1 Infants up to 1 year of age where no evidence of previous screening
exists
The health visitor should:
Make all possible efforts to contact previous residence authorities where possible
(current list of contact details is available from the local CHS office). If written
results are available, record these in the PCHR and HV Repository File and send
a copy to the local CHS office.
If contact not possible or records not available, advise the parents, provide
„Information for Parents‟ leaflet and offer screening.
PKU, CHT and MCADD tests should be routinely offered to infants less than 1
year of age. The IRT test for CF should also be offered if an infant is less than 8
weeks old.
Please note the gestational age of the child should be recorded on the card
submitted to the laboratory even if the parents have declined the test.
If the parents decline screening on the grounds that the screening test has
already been carried out, the Health Visitor should advise a repeat test on the
basis that the result is not known. If the parents still decline, this should be
documented and the Child Health System notified.
Advise the Health Visitor Manager if unable to contact the parent or offer the test
before the child‟s first birthday.
Document the contacts and outcomes in Health Visitor Repository File and
PCHR.
The health visitor will inform the CHS Bureau if the family cannot be contacted,
have moved elsewhere or have declined the offer of screening and a decline card
will be forwarded to the laboratory by the health visitor, to close the information
loop.
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Please contact Child Health Bureau Team by
telephone number 028 3831
4857 or by email or return the list advising of the outcome to, CHS Bureau Team,
Chestnut Building, Lurgan H&SSC, Lurgan BT66 8NT.
10.0 INFORMING PARENTS OF RESULTS OF BLOODSPOT SCREENING
The laboratory issues results to the CHS, who distributes them to the
appropriate Health Visitor.
Health Visitors should routinely inform parents of the test results by the 6-8 week
contact.
Details of the test results should be filed in the PCHR (red book) and the health
visitor‟s repository file.
11.0 FAMILY HISTORY OF MEDIUM CHAIN ACYL-coA DEHYDROGENASE DEFICIENCY (MCADD) AND PHENYLKETONURIA (PKU)
At the booking visit the midwife will inquire regarding family history of MCADD
or PKU and if there is a family history the midwife should ensure that the following
actions are taken:
11.1 In the Antenatal Period
The leaflet „Pregnant with a family history of medium-chain acyl-coA
dehydrogenase deficiency‟ (MCADD) is provided and discussed (and made
available in alternative formats/languages as appropriate).
Parents are referred from antenatal to the Regional Genetics Service, based
in Belfast City Hospital
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A care plan for the infant is developed with the
parents. The infants care plan should be recorded in the mothers maternity
hand held record (MHHR) in both the mother and infant sections of the
record.
The infant‟s care plan is recorded so that colleagues are aware of the risk of
MCADD and the care required after birth
11.2 In the Postnatal Period
If a family history of MCADD is reported, prior to the results of the newborn
blood spot screening test being known, staff should seek urgent advice from
a paediatrician. The paediatrician will advise on early diagnostic testing and
on the appropriate management, including the dietary and other advice being
given to parents, pending the results of the diagnostic tests.
If early diagnostic testing is advised, please refer to MCADD sibling protocol
for guidance on taking the sample for MCADD (ICH, 2008). The reason for
sending an early sample should be clearly written on the card (e.g. family
history of MCADD / PKU).
Prior to results being known it is essential to ensure that the baby maintains a
good milk intake. A term baby should be fed every 4 hours and a preterm
baby every 3 hours. Exclusively breast fed babies are particularly at risk in
the first 72 hours when the supply of breast milk is poor; top up feeds of
expressed breast or formula milk may be necessary in the first 48 -72 hours
until a good milk supply is established. If oral feeds are not tolerated or if the
baby is unwell in any way, urgent referral should be made to a paediatrician
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for review and consideration on nasogastric tube feeds or
commencing intravenous glucose.
If MCADD confirmed follow standard MCADD clinical and dietary
management guidelines.
Infants who undergo early diagnostic testing must still be offered the routine
newborn blood spot screening test on day 5. To enable the laboratory to
link the two tests, staff should write on the card that a sample has already
been sent (e.g. for PKU or MCADD screening).
12.0 CLINICAL REFERRAL INITIATED
Where condition is suspected or further clinical diagnosis is required the laboratory
will initiate clinical referral. In the case of a positive screening test result, the
laboratory will telephone the CHS and request that a repeat / second sample is
obtained.
If a written report has not been received by 4 weeks, the health visitor will contact
the CHS and request a hard copy of investigation report and record in the
repository file.
The CHS will inform the relevant health visiting manager / midwifery manager
who is responsible for arranging the repeat / second test.
The clinical service will notify the GP who will notify the parents.
Information both written and verbal is provided to the parents of babies requiring
clinical referral.
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The laboratory will report children with positive results
directly to the relevant specialist clinician in the Royal Belfast Hospital for Sick
Children (RBHSC).
The specialist paediatrician will contact the GP and / or health visitor to agree
how the parents should be informed and to discuss the arrangements for follow
up.
Health visitors are responsible for making contact with parents where Cystic
Fibrosis screening requires further investigation.
General Practitioners are responsible for making first contact with parents where
MCADD, PKU, homocystinuria, tryosinaemia or CHT is suspected or requires
further investigation by specialist clinical services.
It should be noted that a positive screening test is not a diagnosis. It
indicates that further investigations should be carried out to determine whether
the child has, or does not have, the disease. As this will be distressing for
parents, the health visitor should provide as much support as possible without
giving false reassurance.
12.1 Please note that there may be variations in these procedures from time
to time and it is crucial that instructions from the specialist clinician for an
individual baby are followed, whether or not they fall into the outlined
procedure.
13.0 Northern Ireland Bloodspot Failsafe Protocol
Please refer to NI Newborn Bloodspot Screening Programme Professional Handout
final version 01/04/2009 pg. 28 – 29.
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14.0 EQUALITY AND HUMAN RIGHTS CONSIDERATION
This procedure has been screened for equality implications as required by
Section 75 and Schedule 9 of the Northern Ireland Act 1998. Using the Equality
Commission‟s screening criteria, no significant equality implications have been
identified. Similarly, this procedure has been considered under the terms of the
Human Rights Act 1998, and was deemed compatible with the European
Convention Rights contained in the Act.
15.0 LEGISLATIVE COMPLIANCE, RELEVANT POLICIES, PROCEDURES AND
GUIDANCE
This procedure supersedes all legacy policies and procedures which should be discarded.
UK Newborn Screening Programme Centre (2008) Standards and Guidelines for Newborn Blood Spot Screening
16.0 CONCLUSION
The Chair of the SHSCT Blood Spot Screening Group should be notified
of any difficulties or concerns regarding this procedure so that these can be
brought to the attention of the Group. These issues will then be addressed and
the professional guidance amended or supplemented accordingly.
16.1 This procedure will also be reviewed by the Group on a regular
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basis, and amended copies will be issued to managers
as and when required
for the attention of their staff.
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17.0 REFERENCES
DHSSPS (August 2008) Additions to the Newborn Bloodspot Screening Programme HMSO 27 08 2008 for MCADD NHS July 2008
DHSSPS (2010) Healthy Child Healthy Future. A Framework for the Universal Child Health promotion Programme in Northern Ireland. DHSSPS. Mallett, J The Royal Marsden Manual of Clinical Nursing Procedures Seventh edition Wiley Blackwell. NHS (2008) Standards and guidelines for newborn Bloodspot Screening UK Newborn Screening Programme Centre August 2008
NHS (2008) A Laboratory Guide to Newborn screening in the UK for MCADD – MEDIUM CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY UK Newborn screening Programme centre July 2008 Newborn bloodspot screening for your baby - information leaflet for parents 2011 Northern Ireland Newborn Bloodspot Screening Programme (2009) Introduction of MCADD (Medium Chain Acyl CoA Dehydrogenase Deficiency) and Revised Cystic Fibrosis (CF) Professional Handout Revised Final Version 01 April 2009. NHS (2008) Guidelines for newborn blood spot sampling UK Newborn Screening Programme Centre January 2008 NHS (2005)UK Newborn Screening Programme Centre. Policies and Standards for Newborn Blood Spot Screening. 2005
http://www.newbornbloodspot.screening.nhs.uk
Nursing and Midwifery Council (2008). Record keeping advice sheet. London,NMC.
Nursing and Midwifery Council (2008) The Code: standards of conduct, performance and ethics for nurses and midwives May 2008 SHSCT(2011) Care Pathway for MCADD Family History
SHSSB: Bloodspot Screening Postal Strike Contingency for Implementation date of issue 22/06/07 SHSSB: Directorate of Public Health Re: Transport of Bloodspot Cards to the Laboratory 28 January 2008. www.bimdg.org.uk/mcadd.asp
APPENDIX A Glossary of terms Phenylketonuria (PKU) PKU is a disease which is very rare and only affects around 1 in 6,000 babies born in Northern Ireland. Babies with this inherited condition are unable to process a substance in their food called phenylalanine. If untreated, they will develop serious, irreversible, mental disability. Screening means that babies with the condition can be treated early through a special diet, which will prevent severe disability and allow them to lead a normal life. If babies are not screened, but are later found to have PKU, it may be too late for the special diet to make a real difference. Congenital Hypothyroidism (CHT) Congenital Hypothyroidism (CHT) is a condition which affects 1:3,000 babies born in Northern Ireland. Babies with CHT do not have enough of the hormone thyroxine. Without this hormone, they do not grow properly and can develop serious, permanent, physical and mental disability. Screening means that babies with CHT can be treated early with Thyroxine tablets, which will prevent serious disability and allow them to develop normally. If babies are not screened and are later found to have CHT, it may be too late to prevent them becoming seriously disabled. Babies receiving treatment then develop normally.
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Gestational Neonate (GNEO) In premature infants i.e. less than 35 weeks gestational age at birth a second bloodspot sample must be taken when the infant reaches the equivalent of 36 weeks gestation. The rationale for this is: “Immaturity of the hypothalamic pituitary axis in very low birth weight and pre term infants may initially mask primary congenital hypothyroidism”. It is recommended that repeat sampling based on gestational age rather than birth weight. (UK Screening Programme Centre, Newborn bloodspot screening in the UK Policies and Procedure, April 2005) Cystic Fibrosis About 1 in 2500 babies born in Northern Ireland has cystic fibrosis (CF). This inherited condition can affect the digestion and lungs. Babies with CF may not gain weight well, and then have frequent chest infections. Screening means that babies with CF can be treated early with a high- energy diet, medicines and physiotherapy. Although a child with CF may still become very ill, early treatment is thought to help them live longer, healthier lives. If babies are not screened for CF and they do not have the condition, they can be tested later but parents may have an anxious time before CF is recognised. Screening for cystic fibrosis (CF) includes testing some babies for the most common gene alterations that cause CF. This means screening may identify some babies who are likely to be genetic carriers of cystic fibrosis. These babies may need further testing to find out if they are a healthy carrier or have CF.
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MCADD (Medium Chain Acyl CoA Dehydrogenase Deficiency) MCADD is a rare inherited metabolic condition, which affects around 1 in 10,000 babies born in Northern Ireland. Babies with this inherited condition have problems breaking down fats to make energy for the body. This can lead to serious illness, or even death. Screening means that most babies who have MCADD can be recognized early, allowing special attention to be given to their diet, including making sure they eat regularly. This care can prevent serious illness and allow babies with MCADD to develop normally. Screening babies for MCADD is important, so those with the condition can be identified before they become suddenly and seriously ill. Sickle Cell Disorders About 1 in 5000 babies born in Northern Ireland has a sickle cell disorder (SCD). These inherited conditions affect the red blood cells. Babies with a SCD have red blood cells that can change to a sickle shape and become stuck in the small blood vessels. This can cause pain and damage to the baby‟s body, serious infection or even death. Screening means babies with an SCD can receive early treatment, including immunisations and antibiotics, which along with parent education will help prevent serious illness and allow children to live healthier lives. Screening may also identify babies who are genetic carriers of an SCD or another unusual red blood cell disorder. Other Conditions bloodspot screening may identify: Homocystinuria & Tyrosinaemia Newborn Bloodspot screening may also identify a number of rare metabolic diseases such as Homocystinuria and Tyrosinaemia. Screening babies for these conditions is strongly recommended.