Newborn Bloodspot Screening (NBS) Training for Health Visitors. December 2017

Transcription

1 Newborn Bloodspot Screening (NBS) Training for Health Visitors December 2017

2 Aims To enable you to gain a clear understanding of the following: Aim and rationale for newborn bloodspot screening Conditions screened for in Wales Process for gaining informed consent and arranging sample collection Decline process Sickle cell disorder carrier - reporting this result to parents

3 What is Screening? Screening is a process of identifying apparently healthy people who may be at increased risk of a disease or condition. They can then be offered information, further tests and appropriate treatment to reduce their risk and/or any complications arising from the disease or condition. Wilson Junger WHO 1968

4 What is newborn bloodspot screening?

5 What is newborn bloodspot screening? Newborn bloodspot screening is when a small sample of blood is taken from the baby s heel on day 5 of life, (counting day of birth as day 0) This blood sample is screened for rare but serious diseases that respond to early intervention to reduce mortality and/or morbidity The screening test is part of routine postnatal care

6 What is the aim of newborn bloodspot screening? To offer all eligible babies, at day 5 of life, quality assured screening for rare but serious diseases that would benefit from early intervention, and reduce mortality and morbidity from the disease.

7 Principles of newborn bloodspot screening The purpose of screening is to identify babies more likely to have the conditions Screening is strongly recommended Parents have a right to decline screening for all or specific tests Screening relies on a sample being taken at the right time and reaching the laboratory without delay Benefits depend on timely treatment Further tests are needed for diagnosis All results need to be communicated clearly to parents

8 Limitations of screening Screening is not 100% accurate Sometimes a baby with an abnormal screening result may, after having further tests, be found not to be affected by the condition (false positive) In other cases, a baby with a normal screening result may later be found to have the condition (false negative). This happens rarely.

9 Who is eligible for newborn bloodspot screening? All newborn babies Babies up to one year of age who are resident in Wales, or who move into Wales from elsewhere in the UK, if there is no evidence that: they have an appropriate UK newborn bloodspot screening result, or that it has been declined in the UK Any baby who is resident outside Wales but is receiving routine postnatal care in Wales

10 Who is eligible for newborn bloodspot screening? All babies up to the age of one year who move into Wales from outside the UK (even if screened outside the UK) Screening for cystic fibrosis is only offered for babies up to 8 weeks of age because the test is unreliable after this time

11 Newborn Bloodspot Screening Wales System (NBSWS) Failsafe Information based failsafe system to ensure every baby is screened (or has had screening declined) Identifies eligible babies in Wales who do not have a newborn bloodspot screening sample in the laboratory by day 14 of life Babies up to one year of age who move into Wales will be identified if there is not a result on the system Every baby identified by the failsafe will be followed up The Newborn Screening Administration Failsafe teams contact the relevant health professionals in the health boards to follow up these babies

12 Failsafe administration teams There are three regional failsafe teams in Wales. They can be contacted for the following: To discuss actions required for babies identified by the failsafe To check a baby s NHS number To find out if there is a screening result for a baby To check demographics or whereabouts of a baby

13 Failsafe teams - Contact details Cardiff and Vale, Cwm Taf and Aneurin Bevan University Health Boards: Telephone Abertawe Bro Morgannwg and Hywel Dda University Health Boards and Powys Teaching Health Board: Telephone Betsi Cadwaladr University Health Board: Telephone

14 What conditions are screened for in Wales?

15 What conditions are screened for in Wales? Babies are offered screening for: Congenital hypothyroidism (CHT) Cystic fibrosis (CF) Inherited metabolic disorders: Medium-chain acyl-coa dehydrogenase deficiency (MCADD) Phenylketonuria (PKU) Maple syrup urine disease (MSUD) Isovaleric acidaemia (IVA) Glutaric aciduria type 1 (GA1) Homocystinuria (pyridoxine unresponsive) (HCU) Sickle cell disorders (SCD)

16 Congenital hypothyroidism (CHT) Affects approximately 18 babies per year in Wales Congenital condition - it is very rarely inherited Affected babies do not have enough thyroxine Untreated babies develop serious, permanent, physical and mental disability Early treatment with thyroxine tablets prevents disability Treatment should start by day 14 of life

17 Cystic fibrosis (CF) Affects approximately babies per year in Wales 1 in 25 of population are carriers Autosomal recessive inherited condition some carriers identified Affects the digestive system, the lungs or both Some babies fail to thrive Screening avoids delays in diagnosis Early treatment may improve health Treatment is with nutrition, medication and physiotherapy

18 Inherited Metabolic Disorders (IMDs) Screening for the six IMDs is offered as one test, in addition to the tests for CHT, CF and SCD Parents can only consent to screening for all six IMDs - not possible to test for only some of them The four bloodspots on the screening card must be of good quality or a repeat will be requested

19 IMD: Medium-chain acyl-coa dehydrogenase deficiency (MCADD) Affects approximately 4 babies per year in Wales Autosomal recessive inherited condition Babies with MCADD cannot easily break down fat to make energy for the body Affected babies or children are usually well until potentially life-threatening symptoms occur due to metabolic crisis Metabolic crises can be caused by illness, fasting or vomiting

20 MCADD Screening means that babies who have MCADD can be identified early so that they can receive care to prevent potentially life threatening metabolic crises Treatment is by ensuring a regular safe feeding schedule and the active management of illness or vomiting Emergency regimen for affected individuals who are unwell and/or not feeding well glucose polymer

21 IMD: Phenylketonuria (PKU) Affects approximately 4 babies per year in Wales Autosomal recessive inherited metabolic condition Affected babies are unable to break down phenylalanine (an amino acid in protein) to tyrosine Tyrosine is required for normal brain development High levels of phenylalanine are neurotoxic Untreated babies develop serious, irreversible, mental disability Early treatment with a strictly controlled diet prevents disability Treatment should start by day 17 of life

22 IMDs: MSUD, IVA, GA1 and HCU Approximately one or two babies will be born each year in Wales with one of these autosomal recessive inherited disorders Affected babies are unable to breakdown certain amino acids contained in the protein eaten, leading to a harmful build up of toxins in the blood Untreated babies develop serious problems - may include coma and permanent brain damage Treatment is low protein diet with medications and/or supplements with advice from specialist metabolic team Babies with MSUD and IVA are at risk of metabolic crisis in first days or weeks of life Emergency regimen during illness to prevent metabolic crisis

23 Benefits of screening for MSUD, IVA, GA1 and HCU These conditions are very rare but there are significant benefits of this screening Babies can be identified early and given treatment to improve long term outcome. Treatment before symptoms develop can usually prevent brain damage Parents can be made aware of the management of their baby if they become unwell If an affected baby is not screened, diagnosis may only be made if they develop symptoms which may include the sudden and severe symptoms of metabolic crisis

24 IMDs - Implications for other family members If parents have a child with one of the IMDs the risk of them having another child with that disorder is 1 in 4 (25%) If an affected child has older siblings, the metabolic clinician will offer, if appropriate for the disorder, testing of those children if they have not had newborn screening for that disorder Parents can be offered and referred to specialist genetic services for further information and advice Other family members can also be referred

25 What should happen if there is a family history of an IMD? Pregnant women should be asked if they have any children or other closely related family members who are known to have an IMD If so, the midwife should, in the antenatal period: Refer to a paediatrician for advice and the development of a plan of care for the baby after birth Notify the Newborn Screening Laboratory by telephone and in writing. Advice will be given regarding any action required Appropriate advice should be given to the parents on care of their baby

26 Sickle cell disorders (SCD) In Wales the aim is to identify babies who have a sickle cell disorder and is not to identify babies who are carriers of a sickle cell disorder Affects approximately 3 or 4 babies each year in Wales Autosomal recessive inherited condition Red blood cells become sickle shaped Causes pain, tissue damage, infection and even death Early treatment including antibiotics, as well as parent education, improves health Treatment should be started by 2 months of age

27 Contact details for the Wales Newborn Screening Laboratory For clinical enquiries and when notifying the laboratory of a family history of an IMD: Dr Stuart Moat (Consultant Clinical Biochemist), Director of Wales Newborn Screening Laboratory: Telephone stuart.moat@wales.nhs.uk For general queries: Wales Newborn Screening Laboratory telephone (Laboratory Fax number )

28 Gaining informed consent for NBS

29 What is required to gain informed consent? Newborn bloodspot screening is an invasive medical procedure and cannot be undertaken on babies without informed consent from a person with parental responsibility. A person with parental responsibility must: receive sufficient information and have opportunity to ask questions to enable them to give informed consent for NBS receive sufficient information and the opportunity to decline consent to be contacted for future research

30 What information is available for parents? Leaflet Newborn Bloodspot Screening Information for parents Explains the purpose of NBS, the conditions screened for and how the sample is taken Leaflet is bilingual (Welsh) Different formats are available including easy read, large print and mp3 audio version All versions of the leaflet, and further information can be found on the website:

31 When should parents receive information about this screening? When it is identified that a baby is eligible for NBS: A person with parental responsibility should receive the information leaflet as soon as possible They should have the opportunity to ask questions and discuss the screening with an appropriate health professional at least 24 hours before the sample is taken A further opportunity for discussion should be provided at time of sample collection

32 Do parents have a choice? Newborn bloodspot screening is strongly recommended but parents have the right to choose The benefits of screening should be clearly explained Parents can decline screening for all or any of the conditions All discussions and decisions should be recorded in the health visiting notes or other appropriate record, and in the baby s Personal Child Health Record

33 What should happen when parents consent to the screening? Record the decision Explain to parents the procedure and the arrangements for sample collection Explain what happens to the baby s completed bloodspot card after the sample is tested Explain the possibility of future invitations to take part in research If parents decline future contact, ensure this is recorded in the PCHR the sample taker will then record this on the bloodspot card

34 What happens to the baby s bloodspot screening card after screening? The section of the card that has the written details of the baby is separated and destroyed The bloodspots section is identified by a barcode number unique to both the card and the baby This section will be stored securely for at least five years and may be used: - To check the result - To carry out other tests recommended by the baby s doctor - To improve the screening programme - For research to help improve the health of babies and their families in the UK

35 Arranging the sample collection If the named health visitor is not a sample taker, the baby should be referred, according to local policies, to a nominated sample taker or clinic for sample collection The sample should be taken as soon as possible so that babies affected by any of the conditions can receive treatment at the earliest opportunity Clearly record the visit or appointment details for the parents Ask parents to take the PCHR to the appointment and ensure that the NHS number for baby is available it is mandatory that the sample taker records this on the bloodspot card Bloodspot cards should not be completed prior to sample collection increases likelihood of omissions and errors

36 Action if NHS number is not available If the baby s NHS number is not recorded on the card a repeat sample will be requested. If the NHS number is not available: Contact regional NBS failsafe team - will be able to provide NHS number if it has been generated If baby has moved in from outside the UK and the NHS number has not been generated, ensure NBS is not delayed because of this The sample will be tested if baby moved in from outside the UK no NHS number is recorded on bloodspot card Ensure an is sent to the Newborn Screening Laboratory within 24hrs of sample collection to inform them that the sample is being sent to them

37 Babies approaching 1 year of age - action required if eligible for screening Babies identified as eligible for screening when they are approaching 1 year of age should be offered the screening as soon as possible - before 12 months of age Sample collection should be arranged as soon as possible Samples can be taken after 12 months of age but the laboratory will only test samples taken from babies up to 13 months of age Parents of unscreened babies older than 13 months of age should be advised to see their GP if they have any concerns about their baby s health

38 Babies approaching 1 year of age - action required If the sample is taken between 12 and 13 months of age the following action must be taken: Record baby s age in the comments box on bloodspot card Inform the Wales Newborn Screening Laboratory: Dr Stuart Moat Tel stuart.moat@wales.nhs.uk

39 What should happen if parents decline screening?

40 What should happen if parents decline screening? Explore the reasons for their decision Confirm and record their decision Complete all information fields on the bloodspot screening card and record in the comments box Decline for All or specific test(s) Ask parents to sign the screening card confirming their decision to decline Send screening card to the Newborn Screening Laboratory Provide parents with contact details in case they change their mind Inform GP of the screening test(s) declined

41 Completing the bloodspot card if parents decline screening Complete all information fields on screening card 1 Record in the comments box Decline for All or specific tests 2 Ask parents to sign the screening card confirming their decision to decline 3

42 What information should be given to parents if they decline screening? Inform parents that: NBS can be offered up to one year of age Cystic fibrosis is only offered up to eight weeks of age because the test becomes unreliable after this time

43 NBS Supplies It is recommended that all health visitors have easy access to supplies of the leaflets, bloodspot cards and prepaid envelopes so that: Parents can be offered screening at the earliest opportunity If parents decline screening the bloodspot card is available at the time for completion, and to obtain a signature from parent

44 Who to contact for supplies NBSW sends out regular supplies of leaflets, cards and envelopes to designated areas within each health board Queries about the location or distribution of supplies within the health board should be directed to the relevant managers and/or the health board NBS governance lead Contact or to request supplies or if there are any queries

45 Carrier of a sickle cell disorder - reporting this result to parents As a by-product of the screening test protocol in Wales, babies will occasionally be identified as being a healthy carrier of a sickle cell disorder (approximately 3 or 4 per year) The pathway for communicating this information to the parents is via the baby s health visitor

46 Carrier of a sickle cell disorder reporting this result to parents The health visitor will be contacted by an NBSW co-ordinator who will discuss the results and action required: To inform the parents that the results of the NBS test identify that their baby is a carrier of a sickle cell disorder To inform the parents of the other NBS results To offer, after discussing the results with the parents, referral to the All-Wales Medical Genetic Service To inform the parents of the results within 5 working days

47 Carrier of a sickle cell disorder Information for the health visitor After NBSW has made contact to discuss the sickle cell disorder carrier result, the health visitor will then be sent: Letter for health visitor providing all the NBS results and action required Information leaflet for health visitor to support discussions with the parents Sickle cell disorder carrier information leaflet for parents

48 Carrier of a sickle cell disorder Information for parents Main message: This result does not mean that their baby will be unwell Their baby will not develop a sickle cell disorder Main implication: Provides genetic information that is important for the future when the child becomes an adult and is considering having children If two carriers of a sickle cell disorder have children together, there is a 1:4 chance (25%) that their child will be affected by a sickle cell disorder

49 All-Wales Medical Genetic Service Referral to the All-Wales Medical Genetic Service (AWMGS) should be discussed and offered by the health visitor when discussing the results Parents are referred if they would like further advice and information If parents would like to be referred the health visitor should contact the service to request this (Tel ) The health visitor will then be sent a referral form which they should complete and return to AWMGS AWMGS will then contact the parents and an appointment will be offered in a local genetics clinic

50 Further Information NBSW Website: NBSW NBSW Telephone: CLIMB Children living with Inherited Metabolic Diseases. Support and information from other patients, parents and carers is available Website: Telephone: