Slide 1: Newborn Bloodspot Screening for Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
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1 Slide 1: Newborn Bloodspot Screening for Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD) 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: 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: 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 4
5 Slide 5: Complications of MCADD 5
6 Slide 6: Why screen for MCADD? 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. 6
7 Slide 7: How are babies screened for MCADD? Newborn bloodspot screening for MCADD started in Wales in June Phenylketonuria (PKU), the other inherited metabolic disorder (IMD) included in the programme, was implemented in In May 2014 the UK National Screening Committee (UKNSC) announced its recommendation to screen every newborn baby in the UK for an additional four IMDs. This recommendation followed evidence provided by the Expanded Newborn Screening pilot project in England. On 12 January 2015 the newborn bloodspot screening programme in Wales expanded to include screening for the additional inherited metabolic disorders (IMDs): Glutaric aciduria type 1 (GA1) Homocystinuria (HCU) Isovaleric acidaemia (IVA) Maple syrup urine disease (MSUD) Screening for the six IMDs including MCADD and PKU will be offered as one test, in addition to the tests for CHT, CF and SCD. Parents can only consent to screening for all six IMDs as it is not possible to test for only some of them. Health professional information leaflets for each of the additional conditions can be found on the NBSW website. A separate PowerPoint presentation providing more in depth information about expanded screening and the additional IMDs is also accessible 7
8 from the website. 7
9 Slide 8: How are babies screened for MCADD? The bloodspot sample should be taken on day 5 of life (counting day of birth as day 0), but if this is not possible the sample must be taken between day 5 and day 8. The four bloodspots on the screening card must be of good quality or a repeat will be requested by the laboratory. Good quality samples are essential for accurate results. A good quality sample is when: All four circles on the card are filled and evenly saturated with blood All information fields on the screening card are completed accurately and legibly 8
10 Slide 9: How are babies screened for MCADD? 9
11 Slide 10: How do the parents receive the results? 10
12 Slide 11: How do the parents receive the results? 11
13 Slide 12: Information for parents 12
14 Slide 13: MCADD is suspected immediate management 13
15 Slide 14: Long-term management of MCADD 14
16 Slide 15: How is MCADD managed? 15
17 Slide 16: Babies or children with MCADD who are unwell and/or are not feeding well. 16
18 Slide 17: Babies with MCADD who are well 17
19 Slide 18: Children with MCADD who are well 18
20 Slide 19: Additional management of baby 19
21 Slide 20: Where can parents get further information about MCADD? 20
22 Slide 21: MCADD Implications for other members of the family 21
23 Slide 22: What should happen if there is a family history of MCADD? 22
24 Slide 23: Family history of MCADD - 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 MCADD or any other inherited metabolic disorder (IMD) Earlier bloodspot sample taken due to family history of MCADD or any other IMD: Roanna George, Principal Clinical Scientist: Telephone roanna.george@wales.nhs.uk, or 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
25 Slide 24: Contact details for the Wales Newborn Screening Laboratory 24
26 Slide 25: 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 25
Slide 1: The information has been produced with thanks to the NHS Newborn Blood Spot Screening Programme.
Slide 1: The information has been produced with thanks to the NHS Newborn Blood Spot Screening Programme. 1 Slide 2: Aim 2 Slide 3: Objectives 3 Slide 4: What is the aim of newborn bloodspot screening?
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Mississippi Newborn Screening Report
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