WEST MIDLANDS NEWBORN SCREENING LABORATORY ANNUAL REPORT

Transcription

1 WEST MIDLANDS NEWBORN SCREENING LABORATORY ANNUAL REPORT Newborn Screening and Biochemical Genetics Department West Midlands Regional Laboratory for Newborn Screening and Inherited Metabolic Disorders The Newborn Screening Laboratory is a CPA Accredited Laboratory 1

2 Contents PAGE 1 Introduction 4 2 Executive summary 2.1 Standards and Guidelines for Newborn Blood Spot Screening Staffing 8 4 Services provided 9 5 Activity and Diagnoses 5.1 Laboratory Workload 5.2 Diagnoses (Figure 1) 5.3 Other Diagnoses Clinical Nurse Specialists (Table A: Home visits) 11 7 Denominator Populations 7.1 Data source codes 7.2 Number of babies tested 7.3 Number of Declines Workload Data Tables 8.1 Annual workload (Table B) 8.2 Overall reasons for repeats (Table C, D,E Figure 2) 8.3 Cumulative incidence (Table F) 9 Performance Measures 9.1 Standard 3. Baby s NHS number included on blood spot card 9.2 Standard 4. Timely sample collection (Figure 3) 9.3 Standard 5. Timely receipt of sample in lab 9.4 Standard 6. Quality of blood spot sample 9.5 Standard 9. Timely processing of all PKU positive samples 9.6 Standard 11. Timely receipt into clinical care (PKU) 9.7 Standard 9. Timely processing of all CHT positive samples 9.8 Standard 11. Timely receipt into clinical care (CHT) 9.9 Standard 9. Timely processing of all CF positive samples 9.10 Standard 11. Timely receipt into clinical care (CF) 9.11 Standard 9. Timely processing of all MCADD positive samples 9.12 Standard 11. Timely receipt into clinical care (MCADD) 9.13 Screening for sickle cell disorders (Table G) 9.14 Performance standards for process of sickle screening (Table H) 10 Clinical Governance 10.1 External Quality Assurance (EQA) 10.2 Items of Concern Incorrect NHS Numbers 11 Audit 11.1 Referral guidelines and standards 12 Training and Education (Table I) Research and Development Planned Developments References, Publications and Presentations

3 Acknowledgements Report compiled by Dr Philippa Goddard. We are very grateful to members of the newborn screening team for help in the preparation of this report. 3

4 1. Introduction The West Midlands Newborn Screening laboratory is one of the leading Newborn Screening Labs in the UK, providing prompt diagnosis for an ever increasing number of disorders across the West Midlands. The regional laboratory has pioneered electronic links with Child Health Record Departments. It was closely involved in the introduction of population screening for Sickle Cell Disease and was part of the first phase introduction of Cystic Fibrosis. Further developments included the introduction of Tandem Mass Spectrometry for diagnosis of Phenylketonuria and the subsequent evaluation and introduction of screening for Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCADD), Isovaleric aciduria (IVA), Glutaric aciduria type 1 (GA1), Maple syrup urine disease (MSUD) and Homocystinuria (HCU). The lab continues to maintain its standards of technical excellence, working alongside our partners in Child Health and Public Health England, to ensure complete coverage and to drive forward quality improvements across the whole of the screening programme. Key dates 1969: Universal newborn screening for Phenylketonuria (PKU) 1978: Pilot scheme for newborn screening for sickle cell disease (SCD) began in Birmingham 1981: Universal newborn screening for Congenital Hypothyroidism (CHT) 1985: Child Health computer 1989: Newborn screening for sickle cell disease adopted in Birmingham 1996: Newborn screening for sickle cell disease extended to Coventry 1997: 2 year project screening for PKU by tandem mass spectrometry 2000/1: Pathology modernisation linkage of lab and child health databases providing electronic transmission of results. 2003/4: Newborn screening for sickle cell disease rolled out across the whole of the West Midlands with improved technology and two tier testing. 2004: Screening for Medium Chain Acyl-CoA-dehydrogenase (MCADD) as part of a pilot study 2006: Universal newborn screening for Cystic fibrosis (CF) 2009: Universal newborn screening for MCADD 2012: Screening for maple syrup urine disease (MSUD), homocystinuria (HCYS), isovaleric aciduria (IVA), glutaric aciduria type 1 (GA1) and Long chain acyl-coa-dehydrogenase deficiency (LCHAD) as part of a pilot study 2014: Universal newborn screening for MSUD, HCYS, IVA, GA1 This report summarises the activity of the newborn screening service from 1 April 2016 to 31 March

5 2. Executive summary Outcomes Total number babies screened Total number samples Total number repeat collections 4121 (5.5%) Total avoidable repeat rate 2.3% Total screen positive referrals ( ) o Phenylketonuria (PKU) 4 (4) o Congenital Hypothyroidism (CHT) 56 (47) o Sickle Cell Disorders (SCD) S, SC,S-other disorders 30 (18) o Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) 8 (8) o Cystic fibrosis (CF) 35 (28) o Isovaleric aciduria (IVA) 0 (2) o Homocystinuria (HCU) 1 (0) o Maple Syrup Urine Disease (MSUD) 1 (0) o Glutaric aciduria type 1 (GA1) 2 (0) 5

6 2.1 Standards and Guidelines for Newborn Blood Spot Screening The NHS Newborn Blood Spot Screening Programme aims to support health professionals in delivering a high quality blood spot screening programme. This involves the development and regular review of quality standards against which data is collected and reported annually. The current Newborn blood spot standards were published in August 2013 with an implementation date of 1st April Standards for which the data is collected by the Newborn Blood Spot screening laboratory are listed below. Standards 1, 2, 7 and 12 are the responsibility of the Child Health Records departments or Maternity services. Standard Acceptable threshold Achievable threshold West Midlands NBS lab Standard 3: Baby s NHS number is included on the blood spot card Standard 4: Timely sample collection 100% of blood spot cards received by a laboratory include the baby s NHS Number. 95% of first samples taken 5 8 days after birth (ideally on day 5, count DOB as day 0). 95% of blood spot cards received by a laboratory should have a label that includes the information standard board (ISB) approved barcoded baby s NHS number. >99% of first samples taken 5 8 days after birth (ideally on day 5, count DOB as day 0) % of the blood spot cards include the baby s NHS number. 85.1% of the blood spot cards include the barcoded NHS label. (pg20) All regions in the West Midlands met the acceptable threshold for timely sample collection. (pg 21) Standard 5: Timely receipt of sample in the newborn screening lab Standard 6: Quality of blood spot sample 99% of samples received by laboratory within 4 working days of blood sample being taken. The avoidable repeat rate is less than or equal to 2%. 99% of samples received by laboratory within 3 working days of blood sample being taken. The avoidable repeat rate is less than or equal to 0.5%. There are 16 regions within the West Midlands that meet the acceptable threshold, 5 regions within the West Midlands do not quite meet the acceptable threshold:- E=97.8%, N=97.3%, P=98.3%, R=97.8%, X=98.0% (pg 23) The total avoidable repeat rate is 2.3%. 12 regions met the acceptable threshold. (pg16) Standard 8: CPA standard (screening) The lab is CPA accredited (with the specialists assessment of NBS screening by the next full visit). Full accreditation (ref number 4023). 6

7 Standard Acceptable threshold Achievable threshold West Midlands NBS lab Standard 9: Timely processing of all PKU, CHT and MCADD screen positive samples. 100% of babies with a positive screening result have a clinical referral initiated within 4 working days of sample receipt by screening lab. 100% of babies with a positive screening result have a clinical referral initiated within 3 working days of sample receipt by screening lab. 100% compliance. Standard 10: CPA standard (diagnostic) Standard 11: Timely receipt into clinical care The lab is CPA accredited. 100% PKU, CHT (suspected on first sample), MCADD should attend first clinic by 17 days of age. 100% PKU, CHT (first sample), MCADD should attend first clinic by 14 days of age. Full accreditation (ref number 4023). See page 26 onwards 100% CHT (suspected on rpt sample) should attend first clinic by 24 days of age. 95% CF (2 mutations) should attend first clinic by 28 days of age. 80% CF (none or 1 mutation) should attend first clinic by 35 days of age. 90% SCD should be referred by 8wks of age. 90% SCD should attend local clinic by 3 months of age. 90% SCD should be offered and prescribed penicillin by 3 months of age. 100% CHT (suspected on rpt sample) should attend first clinic by 21 days of age. 100% CF (2 mutations detected) should attend first clinic by 28 days of age. 100% CF (none or 1 mutation) should attend first clinic by 35 days of age. 95% SCD should be referred by 8wks of age. 95% SCD should attend local clinic by 3 months of age. 99% SCD should be offered and prescribed penicillin by 3 months of age. 7

8 A set of Key Performance Indicators (KPIs) have been devised by the UKNSC as a strategy for the collation and return of quality assurance and performance data for the antenatal and newborn screening programmes. For newborn blood spot screening, data on avoidable repeats is collected every month and sent to the Regional Antenatal & Child Health Screening Leads. The KPI is developed from the UKNSPC standard 6: Quality of blood spot sample acceptable avoidable repeat level 2.0%, Achievable level 0.5%. 3 Staffing Clinical Scientists Mary Anne Preece, BSc, MSc, MCB, FRCPath Consultant Biochemist, Head of Department, Director of Newborn Screening and Clinical Lead for Inherited Metabolic Disorders Laboratory Philippa Goddard, BSc, PhD, FRCPath Consultant Biochemist Biomedical Scientists Russell Denmeade AIBMS Deborah Finnerty, MSc, FIBMS Alexa Normandale, BSc,MSc Rotational staff Head of Newborn Screening section, Chief BMS Deputy Head of Newborn Screening section, Senior BMS Senior BMS & Quality lead NSBG Medical Laboratory Assistants Rosy Panesar Sharon Jackson Megan Bassett Clinical Nurse Specialists* Rachel Gould, RN (child branch), MSc Advanced Practice Elaine Salmons, RGN, RSCN Kayleigh McGinty, BSc Child Nursing * Shared posts with Clinical Inherited Metabolic Disease Secretarial/Clerical Bernadette Cunningham Bernadette Vincent Lisa Whittaker Karen Bishop Establishment in the section at the end of the year was as follows:- Consultant Biochemist 0.8 wte Principal Biochemist 0.1 wte Chief Biomedical Scientist 0.9 wte Senior Biomedical Scientists 2.0 wte Band 5/6 Biomedical Scientists 1.0 wte (Rotational post) Medical Laboratory Assistants 1.5 wte Clerical officers 1.64 wte Clinical Nurse Specialists 1.0 wte 8

9 4 Services Provided A. Newborn screening for PKU, CHT, SCD, CF, MCADD, MSUD, HCYS, IVA, GA1 on all babies resident in the West Midlands. B. Consultant/Advisory service for the investigation, diagnosis, treatment and biochemical management of patients detected by the screening programme. C. Blood spot retrieval for CMV testing and other secondary uses as defined in the national guidelines for the use of stored blood spot samples. D. Clinical Nurse Specialist support. New cases diagnosed from the screening programme and requiring recall to see a consultant metabolic paediatrician are supported by clinical nurse specialists. PKU patients on treatment and older females of child bearing age receive on-going support. E. Teaching and Education. The laboratory provides teaching sessions and education material in the theory and practice of newborn screening for health professionals and are actively involved in the junior medic training day and the training of specialist training posts. F. Performance Management and Audit. The quality and effectiveness of the service is monitored by the provision of detailed performance statistical data as part of this annual report and via clinical audit multidisciplinary groups. G. Research and Development infrastructure for new programmes and projects. H. A national screening service for biopterin metabolism defects for the diagnosis of non-classical PKU variants. I. Quantitation of blood spot phenylalanine by tandem mass spectrometry for confirmation of the diagnosis of PKU and monitoring of dietary therapy. J. Diagnostic follow up for other metabolic disorders, detected by screening (e.g. galactosaemia, tyrosinaemia). There is a seamless link between the newborn screening and the diagnostic follow up metabolic services. H, I and J, even though carried out in Newborn Screening, are part of the laboratory Inherited Metabolic Disease service. 9

10 number of cases 5 Activity 5.1 Laboratory Workload The laboratory s workload (total = samples) is more than last year s (total = samples). 5.2 Diagnoses In addition to the 30 cases of sickle cell disorders (FS, FSC), 12 other haemoglobinopathy disorders (3 HbEE/Ebthal, 2 HbCC/Cbthal, 3 HbDD/Dbthal and 4 beta-thalassaemia) cases were detected by newborn screening. Therefore the total referred from sickle screening = 42. Cumulative birth prevalence Calculated birth prevalence figures PKU, CHT, SCD, MCADD and CF are shown in Table F, p 19. Figure 1: Referred and confirmed cases CHT CF SCA MCADD PKU GA1 HCU MSUD IVA REFERRED CONFIRMED Other Diagnoses A baby already diagnosed with propionic acidaemia had a positive screen for MCADD. 10

11 6 Clinical Nurse Specialists The Clinical Nurse Specialists provide liaison for patients across the West Midlands with other health professionals, families and many agencies. Their roles involve teaching and training of midwives and other health professionals (see section 12), clinic support, home visits (see Table A, p11) and visits to schools and other hospitals. The work undertaken includes:- Support of the screening programme-including refusals Communication of screening results for all NBS conditions (PKU, CHT, CF, SCD, MCADD, MSUD, HCYS, IVA, GA1 & the additional metabolic disorders arising from the programme including prenatal diagnosis counselling and support (see IMD report). Table A: Home Visits by Clinical Nurse Specialists HA PKU MCADD CHT CF SCD Beta Other CODE H.Visit Telephone CF Carrier Thal A B 1 1 C 1 D E Extended Screening F G H 1 1 MSUD J 1 K 1 L 1 N GA1 P HCU R S GA1 T U 1 3 W 1 3 X 2 1 Y z Total Total = 83 home visits + 21 telephone calls for CHT Telephone calls for normalised IRT s = 21 11

12 7 Denominator Populations 7.1 Data Source Codes Child Child Health Codes Acute/Foundation Trust Maternity Unit (s) Health Code A Bromsgrove & Worcester Group Alexandra Redditch Redditch B Hereford Hereford Hereford C Kidderminster Worcester Group Kidderminster D Worcestershire Worcester Group Worcester E Shropshire Shrewsbury Shrewsbury *Oswestry / Bridgnorth / Wrekin/ Ludlow F Mid. Staffordshire University Hospitals of Stafford North Staffordshire G North Staffordshire University Hospitals of UHNS North Staffordshire H S.E. Staffordshire Burton Hospitals Queens Burton *Samuel Johnson J Rugby (N.E. Warks) University Hospitals UHCW Coventry & Warwick K North George Eliot George Eliot Warwickshire L South Warwick Warwick Warwickshire N East Birmingham Heart of England Heartlands P North Birmingham Heart of England Good Hope R South Birmingham Birmingham Women s Birmingham Women s S West Birmingham Sandwell& West City Birmingham T Coventry University Hospitals UHCW Coventry & Warwick U Dudley Dudley Group Russells Hall W Sandwell Sandwell& West Sandwell Birmingham X Solihull Heart of England Solihull Y Walsall Walsall Walsall Manor Z Wolverhampton Royal Wolverhampton New Cross * denotes midwife led units Data Caveat The data is based on the denominator of HOME ADDRESS of the baby, i.e. area of residence; therefore it is the midwife or health professional who works in that area that takes the sample. The data has been correlated to the allied provider maternity units and community midwifery service. However, even if the baby is in hospital at the time of the test, the data is still collected on area of residence, which may not be the hospital where the sample was taken. 12

13 7.2 Number of babies tested Child Health Number of babies tested Code A 1929 B 1712 C 1161 D 2905 E 4851 F 3193 G 5493 H 3396 J 853 K 2371 L 2230 N 4574 O 619 P 2314 R 6595 S 4055 T 5046 U 3856 W 4581 X 2112 Y 3659 Z 3495 Total

14 7.3 Total Declines Notified To Laboratory Child Health Code Number of declines A 1 B 5 C 0 D 7 E 2 F 2 G 12 H 8 J 2 K 4 L 4 N 25 O 0 P 1 R 24 S 14 T 10 U 3 W 6 X 2 Y 13 Z 6 Total 151 The majority of the babies where the parents have declined newborn screening are older babies who are most probably movers in and may have been tested already. 14

15 8 Workload Tables 8.1 Table B: Annual workload ( in brackets) NUMBER OF BABIES SCREENED (70957) TOTAL NUMBER OF SAMPLES (74923) NUMBER OF REPEATS RECEIVED 4121 (3966) REPEATS AS % OF TOTAL SAMPLES 5.5% 5.3% 8.2 Table C: Overall reasons for repeats requested Affecting all tests (e.g. insufficient, taken within 72hrs blood 1630 (1521) transfusion, too young, unsuitable) (excluded pre-transfused samples) Affecting CHT Test only Pre-term Borderline result (1130) (121) Affecting SCD Test only Transfusion (sent for DNA analysis) i.e. Pre-transfusion sample had not been taken 110 (162) Affecting CF Test only Inconclusive Unsatisfactory analysis 42 1 (42) (2) TOTAL 2860 (2978) REPEATS AS % OF BABIES TESTED 4.0% (4.2%) Note The repeat blood collections requested during the financial year do not match the number of repeats received as the time frames differ slightly; unrequested repeat (i.e. duplicate) samples are received and due to computing limitations we are unable to identify some repeats taken early for SCD prior to a transfusion or gestation <32 weeks repeat. 15

16 Table D: Reasons for repeats requested (avoidable) Target 2.0% Status Reason code 301 Too young for reliable screening 302 Too soon after transfusion (<72 hours) 303 Insufficient sample (Includes not enough blood, not soaked through, small area re Card scan users) 304 Unsuitable sample (blood quality): incorrect blood application (Incorrect blood application technique includes multispotted, spotted both sides) 305 Unsuitable sample (blood quality): compressed/damaged (Includes compressed, evidence incomplete drying, stained glassine, scratched/abraded/ridged, liquid/water damage/contamination, discoloured spots) 306 Unsuitable sample: day 0 and day 5 on same card 307 Unsuitable sample for CF: possible faecal contamination 308 Unsuitable sample: NHS number missing/not accurately recorded 309 Unsuitable sample: Date of sample missing/not accurately recorded 310 Unsuitable sample: Date of birth not accurately matched 311 Unsuitable sample: Expired card used 312 Unsuitable sample: > 14 days in transit, too old for analysis 313 Unsuitable sample: Damaged in transit (Includes water/liquid damage through outer postal envelope) CH code total rpts total samples % rpts A B C D E F G H J K L N O P R S T U W X Y Z Total

17 A B C D E F G H J K L N O P R S T U W X Y Z Total percentage of avoidable repeats Child Health Code Figure 2: Percentage of avoidable repeats for each Child Health District Code. (Please note, figures for health authority code O (outside region) includes any resident out of the region who may have been transferred in for treatment or may have been tested elsewhere. Many of the babies are in-patients requiring blood transfusions, which may contribute to the increased number of samples taken within 72hrs of a blood transfusion). Acceptable threshold The avoidable repeat rate is less than or equal to 2%. Achievable threshold The avoidable repeat rate is less than or equal to 0.5%. Twelve regions within the West Midlands meet the acceptable threshold of 2%. 17

18 Table E: Reasons for repeats requested (unavoidable) Child Health Code CHT borderline CHT preterm CF inconclusive *SCA transfusion A B C D E F G H J K L N O P R S T U W X Y Z Total *The data shown and also in figure 4 pg.24 represents the samples sent for sickle DNA which have largely resulted from the omission of pre-transfusion blood spot collection. 18

19 8.3 Cumulative Incidence Table F: Cumulative Incidence Disorder Number tested Diagnoses Cumulative Incidence PKU* in CHT* in 2249 SCD** in 3588 MCADD** in CF*** in 3487 * West Midlands figures from January 1983 onwards ** West Midlands data from 1 April 2004 *** West Midlands data from 1 November Performance Measures The measures used are the 12 key process standards and clinical referral standards developed by the UKNSPC/ UKNSC (ref 1), the Newborn Screening laboratory is responsible for collecting data for 8 of these standards (see page 6).The achievable threshold represents the level at which the programme is likely to be running effectively; screening programmes should budget for and aspire towards performance at this level. The acceptable threshold is the lowest level of performance considered safe. Due to the limitations of our current laboratory information management system (SIMS) there are some restrictions in how we can analyse data see explanatory notes below. Explanatory notes to the data Data have been analysed according to the residence of each baby. i) This annual report describes samples received in the laboratory between 01/04/16 and 31/03/17. ii) Sample transit time to the laboratory refers to all samples not just first samples (i.e. includes repeats). 19

20 9.1 STANDARD 3 Baby s NHS number is included on the blood spot card Acceptable Threshold 100% of blood spot cards received by a laboratory include the baby s NHS Number. Achievable threshold 95% of blood spot cards received by a laboratory should have a label that includes the information standard board (ISB) approved bar coded babies NHS number. Child Health Code Cards received %NHS number recorded %barcoded label Number of incorrect NHS numbers A B C D E F G H J K L N O P R S T U W X Y Z Total >99% of the blood spot cards include the baby s NHS number in all regions within the West Midlands with an average of 99.8%. The number of blood spot cards received in the laboratory with barcoded labels (85%) has remained the same since last year (85%) and is still below the standard of 95%. The number of incorrect NHS numbers has increased since last year (16). Midwifery leads of each region are informed about every incorrect NHS number which is received in the laboratory to investigate and action. 20

21 9.2 STANDARD 4 Timely sample collection Acceptable Threshold 95 % first samples taken 5-8 days after birth, i.e. days of age (ideally on day 5) Achievable threshold 100% first samples taken 5-8 days after birth (ideally on day 5) Child Health Code %taken 5-8 days of age %taken 5 days of age A B C D E F G H J K L N O P R S T U W X Y Z Total Data for health authority code O (outside region) includes any resident out of the region who may have been transferred in for treatment or may have been tested elsewhere. 21

22 percentage Figure 3: %first samples taken at 5 days and 5-8 days of age A B C D E F G H J K L N O P R S T U W X Y Z Child Health Code 5-8 days 5 days All areas within the West Midlands meet the core standard of taking >95% of first samples at 5 to 8 days of age. 22

23 9.3 STANDARD 5 Timely receipt of sample in the newborn screening laboratory Acceptable Threshold 99% of samples received by laboratory within 4 working days of sample collection Achievable Threshold 99% of samples received within 3 working days Child Health Code %received within 4 working days %received within 3 working days A B C D E F G H J K L N O P R S T U W X Y Z Total There are 16 regions within the West Midlands that meet the acceptable threshold for 4 working days and 14 regions that meet the achievable threshold for 3 working days. 9.4 STANDARD 6 Quality of blood spot sample A good quality blood spot sample is essential in order to prevent the delay in the identification and treatment of screen positive babies. Poor quality samples that require a repeat to be requested cause anxiety to parents, distress to babies and wastes health care resources. A good quality blood spot sample is one that is taken at the right time, contains sufficient blood to perform all tests, is despatched to the laboratory in a timely manner and has not been contaminated ( January_2016.pdf) 23

24 Number of specimens sent for DNA A number of repeats are requested for clinical reasons and these are unavoidable repeats (see Table E), however, many of the repeats are avoidable and these include insufficient sample, too soon after transfusion (less than 72 hours after transfusion for all of the disorders except for SCD in which 4 months is required), too young (on or before day 4), unsuitable sample (e.g. on a blood spot card that has gone past the expiry date, a contaminated sample, transit time in excess of 14 days, multispotted blood). Acceptable Threshold The avoidable repeat rate is less than or equal to 2%. Achievable Threshold The avoidable repeat rate is less than or equal to 0.5%. Avoidable repeat rate The overall avoidable repeat rate affecting all tests is 2.2%. The reasons for repeats requested are shown in Table D pg 16. Pre transfusion samples Pre transfusion samples should avoid the need for repeats but in the rare cases where this is not possible a sample is sent for sickle DNA testing. The latter service commenced November Figure 4 shows the number of samples sent for DNA analysis from April 2016 to March The total number of samples = 110 which is less than last year (162). Figure 4: Specimens sent for sickle DNA analysis April 2016 to end of March A B C D E F G H J K L N O P R S T U W X Y Z Child Health Code We are unable to provide the number of samples sent for DNA analysis which are unavoidable due to intrauterine or immediate post delivery transfusion, although we get the impression that the percentage is very small. The data shown in figure 4 represents the samples sent for sickle DNA which have largely resulted from the omission of pre-transfusion blood spot collection. 24

25 9.5 STANDARD 9 - Timely processing of all PKU positive samples Child Health Code Number with positive result Age card collected Age at receipt of sample Working days to referral Age at referral (days) Age start of treatment (days) A B 0 C 0 D 0 E 0 F 0 G H J 0 K 0 L 0 N 0 O 0 P 0 R 0 S 0 T 0 U 0 W 0 X 0 Y 0 Z 0 4 presumptive positives from PKU screen 4 cases were confirmed PKU Acceptable threshold: Achievable threshold: 100% positive screening results available and clinical referral initiated within 4 working days of sample receipt 100% positive screening results available and clinical referral initiated within 3 working days of sample receipt 100% compliance with Acceptable threshold 100% compliance with Achievable threshold 25

26 9.6 STANDARD 11 - Timely receipt into clinical care (PKU) Acceptable threshold: Achievable threshold: 100% babies should attend their first clinic appointment by 17 days of age 100% babies should attend their first clinic appointment by 14 days of age Dietary treatment should be commenced in the initial visit if clinically appropriate (PKU initial clinical referral guidelines and standards May 2015 ( Out of the 4 babies treated, 4 were treated by 14 days of age. 100% compliance with Acceptable threshold 100% compliance with Achievable threshold 26

27 9.7 STANDARD 9 Timely processing of all CHT positive samples Child Health Code Number with positive result Age card collected Working days to referral Age at referral at first sample (days) Age at referral at second sample (days) Age start of treatment (days) A 0 B C 0 D not treated not treated E 0 F 0 G not treated H J 0 K L N not treated O 0 P R not treated not treated not treated 27

28 Child Health Code Number with positive result Age card collected Working days to referral Age at referral at first sample (days) Age at referral at second sample (days) Age start of treatment (days) S T not treated * U W not treated X Y not treated Z not treated Acceptable threshold: Achievable threshold: 100% positive screening results available and clinical referral initiated within 4 working days of sample receipt 100% positive screening results available and clinical referral initiated within 3 working days of sample receipt 100% compliance with Acceptable threshold 100% compliance with Achievable threshold 28

29 9.8 STANDARD 11 - Timely receipt into clinical care (CHT) Acceptable threshold: Achievable threshold: 100% babies should attend their first clinic appointment by 17 days of age 100% babies should attend their first clinic appointment by 14 days of age 39 babies had a presumptive positive result based on the first TSH result, i.e.no repeat required. 39/39 of these babies had a clinical referral initiated by 17 days of age (100%). 38/39 of these babies had a clinical referral initiated by 14 days of age (97%). 100% compliance with Acceptable threshold 97% compliance with Achievable threshold Thyroxine should be commenced in 100% cases by: (CHT initial clinical referral standards and guidelines, January 2013) a) CHT suspected on initial screening sample Acceptable standard Achievable standard 17 days of age 14 days of age b) CHT suspected on a repeat blood sample that follows a borderline TSH Acceptable standard Achievable standard 24 days of age 21 days of age There were 39 referrals based on the initial screening sample TSH result. Of these 39, 35 were treated and 35 were treated by 17 days of age (100%); 34 were treated by 14 days of age (97%). 100% compliance with acceptable standard 97% compliance with achievable standard There were 17 referrals based on the second screening sample TSH result. Of these 17, 10 were treated and 9 were treated by 24 days of age (90%); 7 were treated by 21 days of age (70%). 90% compliance with acceptable standard 70% compliance with achievable standard *Details of baby treated after 24 days of age (referral based on second screening sample result) Region T (BCH inpatient) Age at referral (days) Age at start of treatment (days) Background or reason day 8 TSH = 14mU/L (borderline result). Repeat taken day 32 after multiple blood transfusions. 29

30 Child Health Code 9.9 STANDARD 9 Timely processing of all CF positive samples Standards for CF: Number with positive result Time to referral: Within 1 working day of DNA result availability Clinic by 28 days old when a repeat card was not required, others by 35 days Age card Age card Working Age at clinic Mutation analysis collected collected days to appointment (first (second referral sample) sample) A p.phe508del/ p.phe508del B 0 C c.489+1g>t/c.350g>a D p.phe508del/ p.phe508del E p.phe508del/ p.arg347his p.phe508del/ p.phe508del p.phe508del/ p.arg117his F p.phe508del/ p.phe508del p.phe508del/ p.phe508del G p.phe508del/ p.phe508del H 0 J p.phe508del/ p.phe508del p.phe508del/ p.phe508del p.phe508del/ p.phe508del K p.phe508del/ p.arg117his L 0 N none p.phe508del/ p.phe508del O *40 none P p.phe508del/ p.phe508del none *41 none R RIP p.phe508del/ p.phe508del *43 p.phe508del/ none none S p.phe508del/ p.phe508del none none T p.phe508del/ p.phe508del U p.phe508del/ p.phe508del p.phe508del/ p.phe508del p.phe508del/ p.arg117his p.phe508del/ c.15851g>a 30

31 Child Health Code Number with positive result Age card collected (first sample) Age card collected (second sample) Working days to referral Age at clinic appointment Mutation analysis W p.phe508del/ c.489+1g>t X 0 Y none p.phe508del/ p.phe508del Z p.phe508del/ p.phe508del p.phe508del/ none CF Clinical referral: national standard protocol February 2015 ( fibrosis):- 100% clinical referral should be initiated for positive screening results within 1 working day of DNA result availability 35/35 babies (100%) were referred within 1 day. 100% compliance with standard for time to clinical referral 9.10 STANDARD 11 - Timely receipt into clinical care 100% to clinic by 28 days old, others by 35 days when a repeat card was required 25 cases did not require a repeat sample. Out of the 25 cases 1 baby died before the results became available. Out of the 24 cases left, 24 cases were seen in clinic by 28 days of age (100%). 100% compliance with standard for babies with 2 mutations 10 cases required a repeat sample. Out of the 10 cases 7 were seen by 35 days (70 %). 70% compliance with standard for babies with 0 or 1 mutation 31

32 *Details of babies seen after 35 days of age (referral based on second screening sample result) Region O (BCH inpatient) P (BWH inpatient) Age at referral (days) Age at start of treatment (days) 40 No treatment (not CF) 41 No treatment (not CF) Background or reason Initial screen (day 8) out of area, CF inconclusive. Baby transferred to BCH, repeat taken day 36. Initial screen day 5 = insufficient, day 9 = taken too soon after transfusion, repeat collected day 35. R Initial screen (day 7) BCH inpatient = insufficient, day 15 = CF inconclusive. Repeat taken in community day 35. CF Carriers 11 carriers were detected, all were carriers for the p.phe508del mutation. All cases were referred to a clinical nurse specialist. National figures quote that out of babies, approximately 5 CF carriers will be picked up by the screening programme. We are therefore detecting less than anticipated. 32

33 9.11 STANDARD 9 Timely processing of all MCADD positive samples 8 presumptive positive cases for MCADD have been detected in this financial year. Out of the 8 presumptive positive cases:- 3 cases are homozygous for the common mutation c.985a>g/c.985a>g 1 case is homozygous for c.946-6t>g/c.946-6t>g 3 cases not MCADD false positive. Very prem babies in hospital 1 baby already diagnosed with propionic acidaemia No missed cases of MCADD have been notified to the laboratory Child Health Code Number with positive result A 0 Age card collected Age at receipt of sample Working days to referral Age at clinic (days) Mutation analysis B 0 C 0 D 0 E 0 F c.985a>g/c.985a>g G 0 H 0 J 0 K 0 L 0 N c.985a>g/c.985a>g N/A O none (propionic acidaemia) P N/A R 0 S 0 T 0 U 0 W c.985a>g/c.985a>g X 0 Y none Z c.946-6t>g/c.946-6t>g Acceptable threshold: Achievable threshold: 100% positive screening results available and clinical referral initiated within 4 working days of sample receipt 100% positive screening results available and clinical referral initiated within 3 working days of sample receipt 100% compliance with Acceptable threshold 100% compliance with Achievable threshold 33

34 9.12 STANDARD 11 - Timely receipt into clinical care Acceptable threshold: Achievable threshold: 100% babies should attend their first clinic appointment by 17 days of age 100% babies should attend their first clinic appointment by 14 days of age 100% compliance with Acceptable threshold 88% compliance with Achievable threshold 34

35 9.13 Screening for Sickle Cell Disorders (Table G) Significant diseases Non-significant diseases Carriers Child Health Region FS FSC FS-Other FE F Only FC FD Others FAS FAC FAD FAE Other A B C D E F G H J K L N P R S T U W X Y Z Total Grand Total Key to haemoglobin patterns and presumptive, unconfirmed classification: FS Sickle cell disease or S HPFH FAS Sickle carrier FSC SC type sickle cell disease FAC Hb C carrier FS-other SD, SE, SV FAD Hb D carrier FE haemoglobin E disease FAE Hb E carrier F only B thalassaemia major FC haemoglobin C disease FD haemoglobin D disease 35

36 9.14 Performance Standards for process of sickle screening (FS, FSC & FS-other only) (Table H) NHS Sickle Cell and Thalassaemia Screening Programme, Standards, for the linked antenatal and newborn screening programme, October Standard Objective Criteria Acceptable standard Achievable standard NP3 Timely communication of positive screening results (sickle cell disease 95% of sickle cell disease results communicated to parents by 4wks of age NP4 Effective follow-up of infants with positive screening results (sickle cell disease) Time by which affected baby results are communicated to parents Completeness of infants with a positive screening result followed up and entered into care 36 90% of sickle cell disease results communicated to parents by 4wks of age 90% of babies referred by 8 wks to a designated healthcare professional 90% attend local clinic by 3 months of age Lab identifier Hb Status Age at nurse visit (days) Age at first clinic appt.(days) SCA 1 FS SCA 3 FSC coventry nurse visit 49 SCA 4 FSC SCA 5 FS SCA 6 FSC SCA 7 FS SCA 8 FS SCA 11 FSC SCA 12 FSC SCA 13 FSC SCA15 FS SCA16 FS SCA17 FSC SCA19 FSC SCA20 FS SCA22 FS SCA26 FS SCA27 FS SCA28 FS SCA29 FS SCA30 FS SCA31 FS SCA33 FS SCA34 FSC SCA37 FS SCA38 FS coventry nurse visit 30 SCA39 FSC coventry nurse visit 30 SCA40 FS no visit diagnosed antenatally 47 SCA41 FS SCA42 FS in patient in patient 95% of babies referred by 8 wks to a designated healthcare professional 95% attend local clinic by 3 months of age

37 Standard NP3: If using cut off as <4wks Out of 30 positive sickle screening results, 25 were visited by a newborn screening Clinical Nurse Specialist from Birmingham Children s Hospital. Of the 25 cases, 21 were notified by a health care professional by 4 wks of age (84%). If using cut off as <5wks Out of 30 positive sickle screening results, 25 were visited. Of these 25, 23 were notified by a health care professional by <5 wks of age (92%). Whilst not achieving the standard, it should be noted that babies are protected by foetal haemoglobin up to the age of 3 months. Standard NP4: 30 positive sickle screening results were seen in clinic at Birmingham Children s Hospital or University Hospital Coventry & Warwickshire. Of these 30, 30 attended the clinic by 3 months of age (100%). Standard NP4: Out of 30 positive sickle screening results in clinic at Birmingham Children s Hospital or University Hospital Coventry & Warwickshire, 28 attended the clinic by 8 wks of age (93%). 10 Clinical Governance 10.1 External Quality Assurance (EQA) The laboratory participates in the following EQA schemes: UK NEQAS for blood spot phe, tyr, met, C5, C5DC, C8, C10, IRT, TSH (PKU screening and phe and tyr monitoring, HCU screening, IVA screening, GA1 screening, MCADD screening, CF screening and CHT screening) UK NEQAS scheme for abnormal blood spot haemoglobins (SCD screening) DG KC German scheme for blood spot TSH (CHT screening) US CDC Quality Control Scheme for blood spot: Phenylalanine Tyrosine Acyl carnitines (C8) IRT (CF) US CDC Proficiency Testing Scheme for blood spot: Tandem Mass Spectrometry Inborn Errors of Metabolism CDC Galactosaemia screen Sickle Cell Disease and Other Hemoglobinopathies. IRT (CF) Cystic Fibrosis Mutation Detection 37

38 We are assessed for accuracy of numerical results in comparison with other participating laboratories and also the concordance of our result interpretation compared with that of other laboratories. Points of note are as follows:- Performance in all schemes was considered to be satisfactory Items of concern Reasons for referrals and treatment timelines not reaching the set standards are mainly due to:- insufficient/unsuitable samples, leading to avoidable repeats, the initial sample collected later than day 8, repeat sample collected late, delay in sample reaching the laboratory. Incorrect NHS numbers which may either be made by hand or even on a barcoded baby label can lead to incorrect results going out on the wrong baby. Staff in both Child Health and maternity unit involved with NHS number generation at birth need to have a full understanding of the task, their role and correct procedures need to be followed; further training may be required. Missed babies - Introduction of the Northgate failsafe system to avoid missed babies has enabled maternity units to access the system and be assured that all of their babies have had a bloodspot sample taken and received by the laboratory. 11 Audit 11.1 Referral Guidelines and Standards The Newborn Screening Laboratory actively participates in multidisciplinary audit of its service and follow up of patients jointly with paediatricians and other health professionals. Sickle Cell Disorders The sickle programme is audited by a joint laboratory audit group with Clinical Haematology at BCH. 12 Training and Education During the year, our Newborn Screening Training Co-ordinators have held training for midwives and other health professionals involved in the collection of dried bloodspots throughout the West Midlands. These sessions have either been held at the Children s Hospital, or locally as requested. They have consisted of teaching both the theoretical and the practical aspects of dried blood spot collection and an overview of CHT, PKU, SCD, CF, MCADD, IVA, GA1, MSUD, HCU. The following table shows details of the sessions that have taken place. The attendees include midwives/student midwives, health visitors, staff nurses, senior nurses and sisters. The majority of attendees are midwives and student midwives. The total number of attendees (n=429) is more than last year s figures (n = 356). 38

39 Venue No. of sessions No. of attendees Birmingham Children's Hospital Birmingham Heartlands Hospital 2 7 Coventry Uni 2 35 Solihull 1 7 UHCW 2 50 Lichfield 1 19 Stoke 1 14 Gem centre, Wednesfield 3 48 Warwick 1 16 New Cross Worcester 1 21 Total Table I: Number of blood-spot training sessions for midwives and other health professionals PKU schools PKU school was held in April and October These schools give children and young people the opportunity to learn about PKU, have fun, meet others with PKU and to learn about their diet. The age groups are generally 4-7yrs and 8-11 yrs. For those older than 11yrs there are different activities. The groups are varied but what works best is that the 4-7yrs are a mixed group and then there are two separate groups for girls and boys aged 8-11yrs. 13 Research and Development i) Involved in standardisation and collection of population data for newborn screening for the inherited metabolic disorders measured by MS-MS in order to try and improve uniformity between newborn screening laboratories. ii) iii) iv) ing of repeat request letters instead of faxing, in response to previous user survey comments, requesting an improved means of communication of repeat requests to ensure timely repeat sample collection. Progression of the National Northgate failsafe system to report receipt of sample and all 9 results. This system flags up babies in areas who may have missed screening and therefore minimises the risk of newborn screening being delayed or missed. Failsafe system on BCH wards to identify babies >12 days that have not had a newborn screening sample taken on the ward. This also minimises the risk of newborn screening being delayed or missed. v) Labsystems evaluation of the analysis of TSH and IRT for CHT and CF screening. Comparisons with the existing instrumentation (Autodelfia) have been carried out. vi) Reporting biopterins in nmol/ghb to improve sensitivity of the assay and to allow for any low haemoglobins not to be missed as false negative results. 39

40 14 Planned Developments i) Development of scanning equipment linked with Omni lab attachment of a copy of the blood spot card with repeat requests, at risk pregnancy alert forms, positive referrals ii) Omni lab outcome module for recording patient information in conjunction with scanning equipment 15 References, publications and presentations NHS newborn blood spot screening programme standards, published January 2017 implementation date 1 April 2017 NHS sickle cell and thalassaemia screening programme standards, published February 2017 implementation date 1 April 2017 NHS sickle cell and thalassaemia screening programme handbook for newborn laboratories January 2017 (Data Collection and Performance Analysis Report, newborn bloodspot screening in the UK 2015/2016, Public Health England, March 2017). Presentation: Overview of Newborn blood spot screening in the UK/West Midlands regional neonatal study day, February 2017, Pippa Goddard Poster presentations at ISNS Sep 2016:- A 7-year review of CF newborn screening results from a UK regional laboratory Effect of Introducing National Criteria on the Newborn Blood Spot Avoidable Repeat Rate 40