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The Scottish Newborn Screening Laboratory (SNSL)

The Scottish Newborn Screening Laboratory (SNSL). Dr David Aitken Laboratory Director Pregnancy and Newborn Screening Institute of Medical Genetics Yorkhill, Glasgow G3 8SJ David.Aitken@ggc.scot.nhs.uk. Newborn Bloodspot screening in Scotland.

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The Scottish Newborn Screening Laboratory (SNSL)

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  1. The Scottish Newborn Screening Laboratory (SNSL) Dr David Aitken Laboratory Director Pregnancy and Newborn Screening Institute of Medical Genetics Yorkhill, Glasgow G3 8SJ David.Aitken@ggc.scot.nhs.uk

  2. Newborn Bloodspot screening in Scotland • 1965 - National Neonatal Screening Laboratory established in Dept of Bacteriology, Stobhill - Screening for phenylketonuria using the Guthrie Bacterial Inhibition Assay (BIA) • 1970 - Screening for Galactosaemia using BIA • 1979 - Screening for Congenital Hypothyroidism using TSH RIA • 2001 – Lab transferred to Biochemical Genetics Department, Institute of Medical Genetics at Yorkhill • National Specialist Service with top slice funding from National Services Division • 5.3 Laboratory and 3 A&C staff • CPA Accredited

  3. Newborn Bloodspot screening in Scotland Evolution of the neonatal screening service at Yorkhill: • 2001 – “Newborn bloodspot screening” • 2001 - New technology: AutoDelfia immunoassay analyser and automated bloodspot punching system • 2002 - Redesign of Bloodspot card • 2002 – TSH I125 radio-assay replaced with Delfia TSH • 2002 – Screening for Galactosaemia (BIA) abandoned • 2003 – Screening for cystic fibrosis using IRT/DNA/IRT • 2003 – Introduction of signed consent • 2005 – Guthrie BIA for Phenylalanine replaced by MSMS • 2005 – New Laboratory Information Management System

  4. Redesigned blood spot card

  5. Ancestry group coding

  6. Semi-automated bloodspot multipuncher

  7. Autodelfia immunoassay analyser

  8. Quattro Micro Tandem Mass Spectrometer (MSMS)

  9. LaboratoryInformationManagementSystem Patient ID entry Specimen Gate/LifeCycle

  10. LaboratoryInformationManagementSystem Result viewer QC module

  11. Storage of bloodspot cards

  12. Storage of bloodspot cards

  13. Storage of bloodspot cards

  14. Storage and further use of Bloodspot cards • Parents asked to consent to retention of cards beyond 12 month testing period • Occasional requests for stored bloodspot to assist with clinical investigation of child • Extensive use by laboratory for quality control, validation of new methods, etc. • Occasional requests for bloodspots for research • Occasional requests from Procurators Fiscal for bloodspot for forensic investigation • Regulatory framework being put in place to control access

  15. SNSL: Consent • February 2003 – Screening for CF introduced using IRT/DNA/IRT protocol • Consent form allowing parents to accept or decline any or all tests • Signed by parent, witnessed and filed in case record • If all testing declined “blank” card with baby’s details (but no blood) is sent to laboratory • If partial decline, midwife records e.g. “no CF” on card • Laboratory notifies Child Health Dept and GP • Parents given fact sheet and offered opportunity to change their mind

  16. SNSL workload Year Births Insufficient Parental specimens Declines 1965 100,660 1970 87,335 • 68,892 • 65,973 0.51% • 53,076 0.42% 15 (0.028%) • 52,527 0.82% 20 (0.038%) • 51,270 1.14% 18 (0.035%) 2003 52,432 1.39% 56 (0.117%) • 53,957 0.93% 42 (0.077%) • 54,386 0.98% 44 (0.081%) • 55,690 0.55% 22 (0.040%) • 57,781 0.59% 20 (0.035%) 2008 60,000

  17. Referrals of presumptive positive cases, 2002/03-2008/09 Yr: 02/03 03/04 04/05 0506 06/07 07/08 08/09 PKU 6 8 9 10 12 15 9 CHT 35 31 31 25 38 29 31 CF 5 26 30 29 34 30 34 Total: 46 65 70 64 84 74 74

  18. SNSL: Screening for Sickle Cell Disorder Newborn Screening Implementation issues (1) • Information leaflet for parents • Training for Midwives and Laboratory staff • Scottish newborn population: 12% “non-A” (British/Irish) ancestry • Bloodspot card: Modified Ancestry Classification in line with FOQ • Standards – turn around time etc. • Linkage with antenatal haemoglobinopathy screening

  19. SNSL: Screening for Sickle Cell Disorder Newborn Screening Implementation issues (2) • Analytical: Universal screening on bloodspots taken at 5 - 8 days of age EQA Primary screen by HPLC (BioRad VariantNBS System) Confirmatory testing: Isoelectric focusing (PE Resolve Hb assay) • Referrals: (1) SS, S/C, S/-thal, S/DPunjab, S/OArab, S/HPFH (2) -thal major, -thal intermedia, Hb H disease, E/-thal, S/E (3) ?? C/-thal, D/-thal, DD, CC, CD, CE, DE, EE (4) ?? Sickle Cell traits

  20. Autodelfia immunoassay analyser

  21. Newborn Screening in the UK Conditions screened for in the UK are determined by the National Screening Committee • Phenylketonuria (PKU) (Scotland: 1965) • Congenital Hypothyroidism (CHT) (Scotland: 1979) • Cystic Fibrosis (CF) (Scotland: 2003) • Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) (Scotland: 2010) • Sickle Cell Disorder (SCD) (Scotland: 2010) • New technology (MSMS) opens up the possibility for the further expansion of the screening programme

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