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/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:

At Day 5 following birth and,

Infants who move into SHSCT up to one year of age

3 Replaces Legacy Trust Newborn Bloodspot Procedures

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

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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:

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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

Phenylketonuria (PKU), Congenital Hypothyroidism (CHT), Cystic Fibrosis (CF),

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.

Clarified decision. Discussed reason (record reason given).

Told to contact midwife/HV/GP if parent changes decision”. .

The completed card stating parental decline is then sent to the screening

laboratory.

5.4.1 The midwife will inform the GP and health visitor in writing if parents have

declined bloodspot screening.

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5.4.2 The laboratory will issue a decline report that will be forwarded to the health

visitor via the Child Health System (CHS) office. The health visitor is required to

insert a copy of the results into the Personal Child Health Record (PCHR) and the

health visitor‟s repository file. CHS will copy the decline report and forward to the

child‟s GP.

5.4.3 The parents should be advised to contact their midwife / health visitor if they

change their mind or require any further information. Parents should be advised to

inform the HV, GP and /or hospital doctor that the baby has not been screened for

particular tests, if the baby becomes unwell.

5.4.4 If a parent does not wish to be contacted about future research on newborn

blood spot screening, “NO RESEARCH CONTACT” should be recorded clearly on

the bloodspot card.

5.5 Equipment required

Blood spot screening card (check expiry date) and glassine envelope

Non sterile protective gloves

Disposable plastic apron (single use only)

Automated newborn lancet device that will give an incision less than 1.8mm

Cotton Wool/Gauze

Spot plaster

Sharps box

Tin foil tray

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Yellow pre-paid envelope

Midwifery Record

Personal Child Health Record (PCHR)

5.6 Performing the Newborn Blood Spot Sample

Taking the blood spot involves balancing the need to collect sufficient blood, with the

potential for discomfort for the baby and unease for the parents. Practitioners should

have all the necessary equipment prepared on a clean surface within easy reach.

5.6.1The external and internal limits of the calcaneous are the preferred

puncture site marked by the shaded areas in diagram A.

Avoid the posterior curvature of the heel.

5.6.2 Wait up to 15 seconds to allow blood to flow. Allow the blood to fill the

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circle by natural flow, and seep through to the back of the

card. Fill each circle completely and avoid layering blood (UK Standard 5). See

diagram B below.

5.6.3 The practitioner should:

Complete all boxes on the newborn bloodspot screening card.

Confirm the baby‟s name, date of birth and parents‟ contact details

Ensure relevant information is recorded for e.g. drug therapy, family history,

temporary address, any identified risk etc.

Recommended comfort measures for the baby, feeding, sucking, and engaging

the baby through face to face contact, talking or touching.

Analgesia in the form of breast feeding, non-nutritive sucking /or a dose of

sucrose) is beneficial.

Breast milk or breast feeding should always be preferred and sucrose used for

situations where the mother or breast milk are not available.

Ensure that the baby is in a secure position for the sample, cuddled or nursed in a

cot.

The blood sample should be taken from a warm clean heel.

If the skin is not meticulously clean, it should be washed with plain water or

disinfected with an alcohol swab 30 seconds, and allowed to dry for 30 seconds.

It does not need to be sterile.

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Wash hands and apply gloves.

Allow the heel to hang down to increase blood flow. Heel puncture should be

performed on the plantar surface of the heel, beyond the lateral and medial limits

of the calcaneous. Avoid posterior curvature of the heel.

Encircle the heel with the finger(s) and thumb and squeeze gently until the skin

looks taut and suffused with blood.

Using the lancet device twist off and discard lancet cap. DO NOT PULL.

Press platform firmly against chosen site and press release button. Dispose the

lancet device in a sharps box.

Hold the foot downwards. Alternatively squeeze the foot gently and then release

the pressure. Wipe the first drop of blood away with cotton wool as this is

contaminated with tissue fluid.

Gently squeeze the heel to obtain a second drop of blood that „hangs‟ from the

heel.

Ensure minimum contact with the circle mark on the card by gently hanging one

drop of blood so that the blood soaks through to the other side of the card.

Repeat the above steps until the blood has been applied to each of the four

circles on the card. The blood from one droplet should be sufficient for one circle.

DO NOT press the card to the skin.

DO NOT apply multiple drops of blood to fill each circle (this causes layering)

If a second puncture is necessary, make it a few millimeters away from the first or

in the other foot.

When completed wipe away the excess blood with cotton wool. Press clean

cotton wool firmly onto the wound until the bleeding stops.

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Place completed bloodspot sample on a tin foil tray and allow to air dry for 5

minutes. Excessive heating will fix the blood to the card and invalidate some of

the results.

Place the bloodspot sample into the glassine envelope.

Place the glassine envelope into the yellow pre-paid envelope. One sample per

envelope.

SHSCT local policy for return of sample are in place as follows: send the sample

within 24hrs to Craigavon Area Hospital (CAH) & Daisy Hill Hospital (DHH)

laboratories via routine specimen transfer runs to be forwarded to Clinical

Biochemistry/Neo Natal Screening Laboratory, Royal Group of Hospitals.

6.0 Repeat newborn bloodspot screening

Repeat bloodspot samples are requested due to:

Insufficient blood sent to perform any/all tests.

Unsatisfactory analysis which needs re-checking or where the results are difficult

to interpret because of specimen contamination or deterioration

Equivocal or borderline test results.

Baby too young when bloodspot screening was taken

Cards which have not been dried properly following taking the bloodspot sample.

Layering of bloodspot sample has occurred.

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6.1 Telephone contact for repeat and 2nd test requests is made directly by the

laboratory to the CHS Bureau, who contacts the named individuals with

responsibility as described in the SHSCT. Repeat and second test request protocol

as per the NI Newborn Bloodspot Screening Programme Professional Handout final

version 01/04/2009 (Appendix 3). CHS maintains a log of all lab requests and follow

up action taken.

6.2 If the Mother and baby have already been transferred from the care of the

Community Midwifery Service, the Health Visitor/Test Taker will take all repeat /

second test requests. The Health Visitor /Test Taker taking the sample will arrange

the repeat test with the mother/person with parental responsibility to arrange an

appropriate time to visit, informing her of the necessity of the repeat / second test

sample and the reason for it.

6.3 If the repeat test is requested to be carried out over a weekend/Bank holiday

Community Midwifery to be contacted by CHS/HV service and requested to carry

out the test.

6.4 Performing the repeat bloodspot sample see procedure from 5.6.

6.5 Repeat Samples/Results

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The parents should receive results for all repeats (excluding CF

inconclusive) by the 6-8weeks health review.

6.5.1The parents should receive results of the CF inconclusive by 14 days.

6.5.2 The midwife/health visitor will follow the SHSCT Repeat and second test

request protocol (ref NI Newborn Bloodspot Screening Programme Professional

Handout Revised Final Version 01/04/09 Appendix 3 fig 1).

6.5.3 The midwife/health visitor will follow the NI Newborn Bloodspot Screening

Programme: Introduction of MCADD and Revised Cystic Fibrosis incorporating New

UK National Standards in Newborn Bloodspot Screening Professional handout.

7.0 PRETERM CONGENITAL HYPOTHYROIDISM (CHT) I.E. GNEO

(GESTATIONAL NEONATE)

First sample should be taken on Day 5, where possible (count DOB as Day 0).

First samples should be taken “irrespective of medical condition, prematurity, or

feeding status.

7.1 For congenital hypothyroidism, repeat test at 36 weeks (35 weeks and 7 days)

equivalent gestation for premature babies where first sample is taken prior to 36

weeks.

7.2 Staff taking second blood spot samples MUST record the code "GNEO" at the

top of the blood spot card and tick the repeat box for all second samples associated

to infants born at less than 36 weeks gestation.

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7.3 The Laboratory will alert the following “exceptional message” on blood spot

reports relating to samples received for infants born at less than 36 weeks:

“Gestational Age (GA) x weeks. Babies tested before 36 weeks require a second

test at the equivalent of 36 weeks gestation”

If in doubt about the need for a second test, contact: Regional Screening Laboratory

at 02890634043 or 028 90 634096, or

Email: jennifer.cundick@belfasttrust.hscni.net for advice.

7.4 Where the gestation age has not been reported on the blood spot card the

following exceptional message will appear on the report -

“GA not given, babies tested before 36 weeks require a second test at the equivalent

of 36 weeks gestation”

If the baby has already been discharged home this should alert the health visiting

staff to make contact with midwifery/NNU/SCBU staff to establish if a second test is

required before any results are fed back to parents.

7.5 CHS staff responsible for recording blood spot results on to the Child Health

System should ensure that the gestational age which is reported on blood spot

reports corresponds with the gestational age reported and already captured on the

CHS from the Birth Notification (CHS1) and / or the Neonatal Discharge Form

(CHS3b). If they are not the same, CHS staff must confirm with the midwifery

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manager that the gestational age at birth has been corrected

and then update the CHS accordingly. Information regarding the circumstances for

amendment of the

gestational age should be recorded in Medical notes on CHS.

7.6 Service providers who are responsible for maternity, paediatric and health

visiting services must ensure that all premature infants have a second test at the

equivalent of 36 weeks gestation where required (ref NI Newborn Bloodspot

Screening Programme (Professional Handout final version 01/04/2009 Appendix 3)

7.7Arrangements are established within CHS reporting to routinely identify

any resident infant born at less than 36 weeks gestation and who, at time of

reporting, is between the age of the equivalent of 38 weeks gestation and one year,

who has not had an appropriate test carried out at 36 weeks equivalent gestation.

7.8 The baby‟s parents/person with parental responsibility will be informed for the

need to have a second bloodspot sample (GNEO). This will be recorded in the

medical records, PCHR and transfer/discharge letters that newborn screening is not

completed and identify which tests are outstanding. These babies are reported to

health visiting staff. Health visiting managers are responsible for ensuring that

screening has been followed up and completed for these babies.

8.0 SPECIAL CIRCUMSTANCES – BABIES NURSED IN NEONATAL UNITS, SPECIAL CARE BABY UNITS OR PAEDIATRIC WARDS

Screening and blood products

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Where possible the first screening sample should be taken prior to planned transfusion.

8.1 When babies are admitted to neonatal intensive care units at less than 5 days of

age they should have a single circle blood spot sample taken and marked as “Pre-

transfusion”. The “Pre-transfusion” blood spot should be stored with the baby‟s

medical records and dispatched to the newborn screening laboratory, with the Day 5

sample if the baby has received a blood transfusion in the interim.

8.2 Bloodspot tests taken within 72hrs after blood transfusion should be repeated at

72 hrs post completion of transfusion. In the event of multiple transfusions an initial

screening sample should be sent on Day 8 regardless.

8.3 The repeat sample is required 72 hours (3 days) after completion of the blood

transfusion for PKU, CHT, CF and MCADD (for intra-uterine infusion count date of

birth as date of transfusion).

8.4 Please note that infants who have not had a bloodspot test taken due to fragility

of health cannot be removed from the Child Health Failsafe System. The test must

be offered when the infant‟s health has been stabilized or other sampling methods

considered such as venous sampling. The only person authorized to instruct the

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removal of an infant‟s name from the Child Health System‟s

failsafe is the Trust Lead/deputy for Newborn Bloodspot Screening Programme.

8.5 Should a parent of an ill infant decide to decline the test following discussion

with the appropriate medical/nursing staff, the procedure for „decline‟ (see section

5.4 ) should be adhered to.

8.6 If an infant has been discharged/transferred to another hospital it is the infant‟s

resident Trust who responsible for the follow up of bloodspot/GNEO. However it is

expected that the hospital providing care for the infant on Day 5 will take the blood

sample/repeat as necessary.

9.0 MANAGEMENT OF MOVEMENT- IN INFANTS AND UP TO ONE YEAR

OF AGE ACTION REQUIRED BY THE HEALTH VISITOR

Infants up to 1 year of age who have not previously been tested

Provide the „Information for Parents‟ leaflet

Offer the screening test and arrange for test to be taken as soon as possible

Advise the Health Visitor Manager of the actions taken

Document the contact and outcomes in HV Repository File and PCHR

The health visitor will inform the Child Health System (CHS) Bureau if the family

cannot be contacted, have moved elsewhere or have declined the offer of

screening. The screening test card with decline recorded should be forwarded to

the laboratory by the health visitor. Please contact CHS Bureau Team on

telephone number 028 3831 4857 or by email or return the list advising of the

outcome to CHS Bureau, Chestnut Building, Lurgan H&SSC, Lurgan BT66 8NT.

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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

SHSCT (2007) Community Midwifery Manual

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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

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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.