Introduction to Newborn Bloodspot Screening ver3... · Slide 1: Presentation title – Introduction...

transcript

Presentation title – Introduction to Newborn Bloodspot Screening

The information has been produced with thanks to the NHS Newborn Blood Spot Screening Programme.

Objectives

What is Screening?

What is Newborn Bloodspot Screening?

The photograph shows a sample of blood being taken for newborn bloodspot screening (NBS).

What is newborn bloodspot screening?

The sample should be taken on day 5 of life, but if this is not possible the sample must be taken between day 5 and day 8.

It is important to emphasise that the day of birth is counted as day 0 when determining the correct time to take newborn bloodspot screening (NBS) samples.

The day of birth (day 0) is from midnight to midnight and so the time of birth does not affect this.

In some maternity units the day of birth is counted as day 1 and this can sometimes cause confusion when determining the correct time to take samples.

If the date of birth is counted as day 1 this would mean that a routine bloodspot sample taken on day 5 using this calculation, would actually be taken on day 4 which is too early. The laboratory will request a repeat sample for any routine sample taken before day 5.

What is the aim of newborn bloodspot screening?

Why is screening recommended?

The purpose of screening is to identify babies more likely to have the conditions.

These babies can then be referred to clinicians for diagnostic tests and treatment.

The benefits of newborn bloodspot screening are that babies who have any of the conditions can receive early specialist care and treatment to improve their health and prevent the severe disability associated with some of the conditions. This screening is therefore strongly recommended.

It should be emphasised that the benefits of screening rely on a good quality sample being taken at the right time and reaching the laboratory without delay.

Although parents are able to decline screening for all or specific tests it is important to note that screening for all the inherited metabolic disorders is offered as one test. This means that parents cannot choose for their baby to be screened for only some of the inherited metabolic disorders.

All results should be discussed with the parents and should be entered into the baby’s Personal Child Health Record so that there is evidence of bloodspot screening result.

Limitations of screening

Who is eligible for newborn bloodspot screening?

All newborn babies are eligible for newborn bloodspot screening. Newborn babies are defined as:

• A newborn baby who is born in Wales and is resident in Wales at day 5-8 of life

• A newborn baby who is born in Wales and is resident at day 5-8 of life, but is registered with an English GP

• A newborn baby who is born in Wales and whose usual place of residence is outside Wales, if they are under routine midwifery care in Wales at day 5-8 of life.

Who else is eligible for newborn bloodspot screening?

It is important to emphasise that all babies up to the age of one year who move into Wales from outside the UK are eligible for newborn bloodspot screening. This is regardless of whether or not they have had newborn bloodspot screening overseas.

Babies who move into Wales from the Republic of Ireland are also eligible even if there is evidence of a newborn bloodspot screening result tested in the Dublin newborn screening laboratory.

Babies up to the age of one year who move into Wales from England, Scotland or Northern Ireland are not eligible if there is evidence of a newborn bloodspot screening result or decline (sample tested in UK newborn screening laboratory).

Screening for CF is only offered for babies up to 8 weeks of age because the test is unreliable after this time. Newborn bloodspot screening for CF relies on the analysis of immunoreactive trypsinogen (IRT) which is significantly increased in newborns affected by CF, during the first few weeks of life. IRT becomes unreliable as an indicator for CF after eight weeks of age.

The baby’s newborn bloodspot screening test result report will state if the baby has not been tested for CF due to the baby being older than eight weeks of age at the time of sampling. When the other newborn screening test results are given and recorded in the baby’s personal child health record, the health visitor should notify the family that the baby has not been screened for CF.

Should the family, midwife or health visitor have any concerns about the baby’s health in relation to CF (e.g. persistent cough, recurrent bronchial infections or failure to thrive) then the baby should be referred to their GP. The possibility of cystic fibrosis should be investigated as a matter of urgency.

It is important to note that any baby with a persistent cough, recurrent bronchial infections or failure to thrive should be referred to their GP even if they have been screened for CF and have had a ‘not suspected’ result for this condition.

What conditions are screened for in Wales?

This slide lists the conditions that babies are screened for in Wales.

Screening for the following conditions was fully implemented in Wales as follows:

• CHT 1981

• CF December 1996

• MCADD June 2012

• PKU 1970

• SCD June 2013

Screening for the following four inherited metabolic disorders is planned to start in mid-January 2015:

• Glutaric aciduria type 1 (GA1)

• Homocystinuria (HCU)

• Isovaleric acidaemia (IVA)

• Maple syrup urine disease (MSUD)

It is important to ensure that it is known that newborn bloodspot screening for Duchenne Muscular Dystrophy (DMD) ceased in Wales at the end of 2011.

Congenital hypothyroidism (CHT)

Further information about congenital hypothyroidism can be found in the NBSW leaflets:

• ‘Newborn Bloodspot Screening – Information for parents’

• ‘Congenital Hypothyroidism (CHT) Information for Health Professionals’

These leaflets and other CHT information can be found on the NBSW website:

www.newbornbloodspotscreening.wales.nhs.uk

The Health Professional Information pack has been produced for health professionals who are involved in newborn bloodspot screening in Wales.

The pack contains the ‘Congenital Hypothyroidism (CHT) Information for Health Professionals’ leaflet and the information leaflets about the other conditions screened for in Wales.

The packs can be found on the website and can be requested via email: NBSW@wales.nhs.uk

Cystic fibrosis (CF)

Further information about cystic fibrosis can be found in the NBSW leaflets:

• ‘Cystic Fibrosis (CF) Information for Health Professionals’

These leaflets can be found on the NBSW website:

The pack contains the ‘Cystic Fibrosis (CF) Information for Health Professionals’ leaflet and the information leaflets about the other conditions screened for in Wales.

Inherited Metabolic Disorders (IMDs)

On 9 May 2014 the UK National Screening Committee (UK NSC) announced its recommendation to screen every newborn baby in the UK for an additional four inherited metabolic disorders. This recommendation followed evidence provided by the Expanded Newborn Screening pilot project in England.

Expanded screening

GA1, HCU, IVA and MSUD

Benefits of screening for the additional IMDs

It should be emphasised that the benefits of screening rely on a good quality sample being taken at the right time and reaching the laboratory without delay.

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

Further information about MCADD can be found in the NBSW leaflets:

• ‘Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Information for Health Professionals’

These leaflets and other MCADD information can be found on the NBSW website:

A separate PowerPoint presentation providing more in depth information about MCADD has been developed and is accessible from the website.

The pack contains the ‘Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Information for Health Professionals’ leaflet and the information leaflets about the other conditions screened for in Wales.

Phenylketonuria (PKU)

Further information about phenylketonuria can be found in the NBSW leaflets:

• ‘Phenylketonuria (PKU) Information for Health Professionals’

These leaflets can be found on the NBSW website:

The pack contains the ‘Phenylketonuria (PKU) Information for Health Professionals’ leaflet and the information leaflets about the other conditions screened for in Wales.

Implications for other members of the family

What should happen if there is a family history of an inherited metabolic disorder?

Action required after birth

Contact details for the Wales Newborn Screening Laboratory

Health professionals should use the following contact details:

1. For clinical enquiries and when notifying the laboratory of:

• Family history of an IMD

• Earlier bloodspot sample taken due to family history of IMD:

Roanna George, Principal Clinical Scientist:

Telephone - 029 2074 3561

Email - roanna.george@wales.nhs.uk, or

Dr Stuart Moat (Consultant Clinical Biochemist) , Director of Wales Newborn Screening Laboratory:

Telephone – 029 2074 3562

Email – stuart.moat@wales.nhs.uk

2. To check that a sample has been received, or for any queries about demographic information on a bloodspot card -

Telephone – 029 2074 4032

Laboratory Fax number – 029 2074 4065

Contact details for the Wales Newborn Screening Laboratory

Sickle cell disorders (SCD)

The following leaflets and other SCD information can be found on the NBSW website www.newbornbloodspotscreening.wales.nhs.uk:

Health Professional Information leaflets

• Sickle Cell Disorders (SCD) Information for Health Professionals

• Sickle Cell Disorder Referral Guidelines

• Change to the Newborn Bloodspot Screening Pathway in Neonatal Units in Wales

Parent Information leaflets

• Newborn Bloodspot Screening – Information for parents

• Information for Parents – A Sickle Cell Disorder is Suspected.

Please note that this leaflet is intended for parents of babies who are suspected ofhaving a sickle cell disorder following their newborn bloodspot screening, and isnot a general information leaflet.

The pack contains the ‘Sickle Cell Disorders (SCD) Information for Health Professionals’ leaflet and the information leaflets about the other conditions screened for in Wales.

SCD - Newborn bloodspot screening pathway in neonatal units

Every baby admitted to a neonatal unit in Wales should have a single bloodspot sample taken on admission. This sample must be labelled ‘pre-transfusion sample’, kept and then attached to the routine newborn bloodspot sample taken at day 5 to 8 of life, ideally on day 5 (counting day of birth as day 0). Both samples should then be sent to the Newborn Screening Laboratory for analysis.

It should be emphasised that both the pre-transfusion sample and the routine newborn bloodspot sample (stapled together) should be sent to the Wales Newborn Screening Laboratory, even if the baby did not have a transfusion in the period between the pre-transfusion sample and the routine bloodspot sample.

The pre-transfusion sample should be stored as per local policy in such a way as to ensure that it is sent to the laboratory with the routine sample. The sample must not be stored in a plastic envelope/poly pocket.

If a baby is discharged or transferred from the neonatal unit before the routine newborn screening sample is due to be taken, the pre-transfusion sample should be sent to the laboratory by the neonatal unit staff, and this should be documented in the baby’s notes and discharge summary. The health professional who later takes the routine sample should record on the bloodspot card that the baby has had a pre-transfusion sample taken in the neonatal unit. This makes the laboratory aware so that they can match the pre-transfusion and routine NBS samples together.

Further Information for Neonatal Units can be found on the NBSW website:

‘Change to the Newborn Bloodspot Screening Pathway in Neonatal Units in Wales as a result of the implementation of Newborn Bloodspot Screening for Sickle Cell Disorders in Wales’.

Newborn bloodspot screening scenarios – Scenario 1

The Newborn bloodspot screening (NBS) test should be discussed with the parents to find out if the sample was taken, and where the family were living at the time of the test. The health visiting notes and personal child health record (red book) for the baby should be checked for evidence of a UK newborn bloodspot screening result.

It is important to ensure that there is evidence of NBS result or decline even if parents say that their baby has had screening and that they have been told the result. The parents may have remembered their baby having blood taken from the heel but this may have been for another reason.

There may be evidence of the sample being taken, but this does not confirm that the sample reached the laboratory or that it was tested.

If there isn’t any evidence of the NBS result or decline in the records, the Regional Newborn Screening Administration teams should be contacted (office hours Monday – Friday) so that:

• Checks can be made on the Newborn Bloodspot Screening Wales System (NBSWS)• Checks can be made with the UK Newborn Screening Laboratory in Birmingham (or

relevant UK newborn screening lab if living elsewhere in the UK at the time) to find out if there is a result for this baby. If so, the laboratory would then be able toissue a report stating the result.

If there is no evidence of UK NBS screening, the baby is eligible and should be offered this screening up to the age of one year. Screening for cystic fibrosis cannot be offered because it can only be offered to babies under 8 weeks of age because the test becomes unreliable after this time.

Newborn bloodspot screening scenarios – Scenario 2

This baby is eligible to be offered NBS even if screening tests have been undertaken in Japan.

As this baby is over 8 weeks of age, cystic fibrosis cannot be offered because the test is not reliable after 8 weeks of age.

If parents decline the screening, the information fields on a newborn bloodspot screening card should be completed in full. The date should be written on the card (in the comments box) and the name of the health professional who has taken responsibility for discussing the screening and completing the information fields should be recorded in the sample taker name box. They should also record their sample taker ID on the card.

Guidance for the action required if parents decline screening can be found in the next presentation in this package ‘Gaining informed consent for newborn bloodspot screening’ and in the ‘Guidance notes for all sample takers’ (NBSW) which can be found on the NBSW website: www.newbornbloodspotscreening.wales.nhs.uk

Sample taker ID:

This is the health professional’s NMC number which should be recorded in the Sample taker ID box on the card.

Those health professionals who do not have an NMC number will be issued with a unique identifier by NBSW after they have completed and returned a sample taker registration form. These forms can be found on the NBSW website.

Further information

The Newborn Bloodspot Screening (NBSW) website has been developed for use by the public and health professionals. It includes information about the conditions screened for, frequently asked questions and developments in newborn bloodspot screening in Wales. There are also training resources for health professionals on this website.

NBSW bulletins provide information and updates on Newborn Bloodspot Screening in Wales.

Newborn Screening Administration Team Telephone Numbers (office hours Mon – Fri)

The teams can be contacted by health professionals who have queries about the follow up of babies including those identified by the NBSWS failsafe. They can also be contacted to request the NHS number for a baby if it is not available prior to taking the sample.

South East Wales - Cardiff and Vale, Cwm Taf and Aneurin Bevan University Health BoardsTel - 029 2074 3568

South West Wales - Abertawe Bro Morgannwg and Hywel Dda University Health Boards and Powys Teaching Health BoardTel - 01656 754085

North Wales - Betsi Cadwaladr University Health BoardTel - 01978 727005

Clinical queries - For all clinical enquiries (including interpretation of screening results/family history queries) or enquiries about the quality of a bloodspot sample please contact:

Roanna George, Principal Clinical Scientist: Telephone – 029 2074 3561Email: roanna.george@wales.nhs.uk, orDr Stuart Moat (Consultant Clinical Biochemist), Director of Wales Newborn Screening Laboratory: Telephone – 029 2074 3562 Email: stuart.moat@wales.nhs.uk

Wales Newborn Screening Laboratory telephone – 029 2074 4032Laboratory Fax number – 029 2074 4065

Introduction to Newborn Bloodspot Screening ver3... · Slide 1: Presentation title – Introduction...

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