Slide 1: The information has been produced with thanks to the NHS Newborn Blood Spot Screening Programme.
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1 Slide 1: The information has been produced with thanks to the NHS Newborn Blood Spot Screening Programme. 1
2 Slide 2: Aim 2
3 Slide 3: Objectives 3
4 Slide 4: What is the aim of newborn bloodspot screening? 4
5 Slide 5: What conditions are screened for in Wales? Screening for the conditions above was fully implemented in Wales as follows: CHT 1981 CF December 1996 MCADD June 2012 PKU 1970 SCD June 2013 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
6 Slide 6: Expanded screening Introduction of screening for four additional conditions 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. Health professionals will be informed of the exact start date of expanded screening in Wales prior to implementation. 6
7 Slide 7: Expanded screening four additional IMDs 7
8 Slide 8: The additional IMDs GA1, HCU, IVA and MSUD 8
9 Slide 9: Benefits of screening for GA1, HCU, IVA and MSUD 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. 9
10 Slide 10: IMDs already included in screening programme 10
11 Slide 11: Medium-chain acyl-coa dehydrogenase deficiency (MCADD) Further information about MCADD can be found in the NBSW leaflets: Newborn Bloodspot Screening Information for parents 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 Health Professional Information pack has been produced for health professionals who are involved in newborn bloodspot screening in Wales. 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. The packs can be found on the website and can be requested via NBSW@wales.nhs.uk 11
12 Slide 12: MCADD 12
13 Slide 13: Phenylketonuria (PKU) Further information about phenylketonuria can be found in the NBSW leaflets: Newborn Bloodspot Screening Information for parents Phenylketonuria (PKU) Information for Health Professionals These leaflets can be found on the NBSW website: The Health Professional Information pack has been produced for health professionals who are involved in newborn bloodspot screening in Wales. The pack contains the Phenylketonuria (PKU) 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 13
14 Slide 14: IMDs - Implications for other members of the family 14
15 Slide 15: What should happen if there is a family history of an IMD? 15
16 Slide 16: Family history of an IMD - 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: Dr Stuart Moat (Consultant Clinical Biochemist), Director of Wales Newborn Screening Laboratory: Telephone 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 Laboratory Fax number
17 Slide 17: Contact details for the Wales Newborn Screening Laboratory 17
18 Slide 18: Where can parents get further information? 18
19 Slide 19: Where can health professionals get further information? 19
20 Slide 20: Why is a good quality bloodspot sample important? 20
21 Slide 21: Why is a good quality bloodspot sample important? 21
22 Slide 22: What is a good quality bloodspot screening sample? 22
23 Slide 23: Good quality bloodspot sample This photograph shows an example of a good quality bloodspot sample as seen from the front and the back of the card. Each bloodspot is made up of a single drop of blood which has been allowed to soak evenly through to the back of the card. 23
24 Slide 24: Further information The Newborn Bloodspot Screening (NBSW) website has been developed for use by the public and health professionals. The website 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. Any general (non-clinical) queries about newborn bloodspot screening can be made via 24
25 Slide 25: Appendix 1: Additional IMDs - Key Facts Leaflets providing information about each of the four additional conditions have been developed for health professionals. These can be found on the NBSW website: The leaflets can also be found in the NBSW Health Professional Information pack together with leaflets for the other conditions and other newborn bloodspot screening information. These packs can be found on the website and can be requested via NBSW@wales.nhs.uk 25
26 Slide 26: Appendix 1: Additional IMDs - Key Facts 26
27 Slide 27: Appendix 1: Additional IMDs - Key Facts 27
28 Slide 28: Appendix 1: Additional IMDs - Key Facts 28
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