Newborn blood spot screening data collection and performance analysis report 1 April 2018 to 31 March 2019
Updated 21 September 2023
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The NHS Newborn Blood Spot (NBS) Screening Programme enables early identification, referral and treatment of babies with 9 rare but serious conditions.
This report presents annual screening data for the NBS programme for the financial year 1 April 2018 to 31 March 2019. All mentions of 2018 to 2019 refer to this 12 month period.
The report records performance against NBS screening national standards. Thresholds are set for each standard.
Please note, each of the 4 UK countries has an independent newborn screening programme and some standards have not been adopted in all 4 countries.
The standards measured in this report were published in 2017.
This is the first time we have published our NBS annual data report in HTML format. You can switch between chart and table format for some figures by clicking on the button directly below each figure title.
1. Report summary
UK coverage for blood spot screening remained high for both born and resident and mover in babies in 2018 to 2019. All 4 regions in England and Northern Ireland reported coverage of more than 95.0%, meeting the acceptable threshold.
In total, 85.9% of blood spot cards were completed with the barcoded label in 2018 to 2019. This is an increase compared to the previous year (2017 to 2018).
Performance for timely sample collection varies across the UK, but remains high overall.
Northern Ireland, Scotland and Wales all reported an increase in avoidable repeats. England reported a small reduction in avoidable repeats of 0.2% since 2017 to 2018.
All reporting Clinical Commissioning Groups (CCGs) are performing a check for untested babies on the Child Health Information System (CHIS) which meets the achievable threshold.
2. Recommendations
Standard 1a/KPI NB1: Coverage (CCG responsibility at birth) and Standard 1b/KPI NB4: Completeness of coverage (movers in)
Recommendation
Completeness can be improved in the north region.
Responsibility
Commissioners of child health services.
Standard 2: Timely identification of babies with a null or incomplete result on the CHIS
Recommendation
Child health services should perform daily checks for untested babies independently of the failsafe IT solution.
Responsibility
Commissioners of child health services.
Standard 3: Barcoded NHS number label is included on the blood spot card
Recommendation
Newborn screening laboratories should make efforts to report by maternity service as this is now a mandatory data field on the blood spot card. This will enable the screening quality assurance service (SQAS) to monitor performance at maternity service level.
Responsibility
Newborn screening laboratories.
Recommendation
Performance should continue to improve and maternity services should seek to use the barcoded label whenever possible to ensure accurate completion of the blood spot card and reduce delays in screening.
Responsibility
Providers of maternity services.
Standard 4: Timely sample collection
Recommendation
Sample collection on day 5 should be recommended and reinforced to increase performance against this standard. Babies undergoing transfusion can have the sample collected on days 6 to 8, but they are not excluded from this standard.
Responsibility
Providers of maternity services.
Standard 5: Timely receipt of a sample in the newborn screening laboratory
Recommendation
Geographical variation in performance persists in this standard. Services with low performance should seek improved strategies for ensuring that samples arrive in the laboratory within 3 working days. Newborn screening laboratories should make efforts to report by maternity service as this will enable SQAS to monitor performance at maternity service level.
Responsibility
Providers of maternity services and newborn screening laboratories.
Standard 6: Quality of the blood spot sample
Ongoing effort must be made to eradicate these avoidable errors. See programme resources, including the e-learning module ‘Newborn blood spot sample’ which is available on newborn blood spot screening: education and training.
Responsibility
Providers of maternity services.
Standard 7: Timely taking of a repeat blood spot sample
No recommendation.
Standard 9: Timely processing of congenital hypothyroidism (CHT) and inherited metabolic disease (IMD) (excluding homocystinuria (HCU)) screen positive samples
No recommendation.
Standard 11: Timely entry into clinical care – all conditions
Recommendation
Data completion continues to be poor. Work must be done to improve the completeness of data for timely entry into care. Communication processes must be improved to address this gap in reporting.
Responsibility
Newborn screening laboratories.
Standard 12a: Timeliness of results to parents (CCG responsibility at birth) and Standard 12b: Timeliness of results to parents (movers in)
Recommendation
Data completeness can be improved in the north region.
Responsibility
Commissioners of child health services.
Blood spot screening pathway
Figure 1: NBS routine screening pathway flowchart, with standards mapped to the pathway
An alternative text version of the NBS routine screening pathway flowchart is available.
Overview of UK national screening figures
Figure 2: screen positive rate (per 10,000) from 2005 to 2019 for babies screened for phenylketonuria (PKU), CHT, cystic fibrosis (CF), medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and sickle cell disease (SCD).
Data source: Newborn screening laboratories.
Bar chart showing rates of PKU, CHT, CF, MCADD and SCD across 14 years. Screen positive rate for CHT rose year-on-year and then dropped from 9.13 per 10,000 babies screened in 2017 to 2018, to 7.60 per 10,000 babies screened in 2018 to 2019. Screen positive rate for SCD decreased steadily from 2005 until 2018 to 2019, when it rose to 4.08 per 10,000 babies screened. This is up from 3.39 per 10,000 the year before.
A significant proportion of screen positive results will not be confirmed cases. Data for SCD includes England only before 2015 to 2016. MCADD data begins in 2008 to 2009, when the screening programme was rolled out across the UK.
3. Coverage
See the 2 recommendations related to coverage.
Standard 1a / KPI NB1: Coverage (CCG responsibility at birth)
Description
Proportion of babies less than or equal to 17 days of age who are registered with a CCG at birth and on the last day of the reporting period. Babies need to be eligible for NBS screening and have the following result recorded on CHIS for each of the 9 conditions:
- not suspected
- suspected
- carrier result
Numerator
Number of eligible babies who have a not suspected, suspected or carrier result for each of the 9 conditions recorded on the CHIS at less than or equal to 17 days of age (day of birth is day 0).
Denominator
Number of eligible babies born within the reporting period, excluding any baby who died before the age of 8 days. For this standard, the cohort includes only babies for whom the CCG was responsible at birth and on the last day of the reporting period.
Acceptable threshold
≥ 95.0%
Achievable threshold
≥ 99.0%
This standard is a Key Performance Indicator (KPI). PKU is used as a proxy for all conditions screened for as part of newborn blood spot screening.
More information is available on KPIs for NHS population screening in England.
Figure 3: Coverage of newborn screening measured using PKU: CCG responsibility at birth (born and registered population, measured at 17 days), 2010 to 2019
The line chart shows consistently high performance by Northern Ireland — which is always close to or above the 99.0% mark. Performance in England rose steadily from 2010 (when it was 81.8%), to 97.8% in 2018 to 2019.
Data source: national quarterly KPI data which is aggregated annually, and annual data received from child health records departments (CHRDs) in Northern Ireland. Please note the y-axis does not start at 0.0%.
The achievable threshold was lowered from 99.9% to 99.0% in 2017 and subsequently this threshold was met by Northern Ireland in 2018 to 2019. Performance against the standard continues to improve overall in England with all regions meeting the acceptable threshold.
Figure 4. Completeness of data, standard 1a, 2018 to 2019, by region
| Completeness | Number of ‘no returns’ | Number of returns ≥ 95.0% | Number of returns < 95.0% |
|---|---|---|---|
| London | 0 | 32 | 0 |
| Midlands and East | 0 | 55 | 4 |
| North | 4 | 57 | 1 |
| South | 0 | 41 | 1 |
| Northern Ireland | 1 | 1 | 0 |
Standard 1b / KPI NB4: Completeness of coverage (movers in)
Description
Proportion of all babies eligible for newborn blood spot (NBS) screening who have both:
- changed responsible clinical commissioning groups (CCG) or moved in from another UK country or abroad in the reporting period
- a conclusive result for PKU recorded on CHIS at less than or equal to 21 calendar days of notifying the child health department of moving in
Numerator
Number of eligible babies who have a not suspected, suspected or carrier result for each of the 9 conditions recorded on the CHIS at less than or equal to 21 calendar days of notifying the CHRD of moving in.
Denominator
Number of eligible babies:
- who have changed responsible CCG, or moved in from another UK country or abroad during the reporting period
- for whom the CCG is responsible on the last day of the reporting period
- are less than or equal to 364 days of age at the point of notifying the CHRD of moving in (only if the blood spot sample can be taken before they reach a year of age)
Acceptable threshold
≥ 95.0%
Achievable threshold
≥ 99.0%
The introduction of the timeframe affected performance – as seen in 2015 to 2016 data. Performance improved since this adjustment.
No region in England met the acceptable threshold of 95.0% in 2018 to 2019, however 68 CCGs did report performance over 95.0%. Northern Ireland did not return data for babies tested within the timeframe in 2018 to 2019.
Figure 5: Completeness of coverage for PKU (movers in), 2010 to 2019
Data source: national quarterly annual aggregate KPI data collection
A line chart shows performance annually in England from 2010 to 2011, to 2018 to 2019. Performance decreased from 91.5% in 2014 to 2015, to 78.3% in 2015 to 2016 – a period in which the 21 day timeframe was applied to the standard. Performance then rose to 89.0% in 2018 to 2019.
Figure 6. Completeness of data, standard 1b, 2018 to 2019, by region
| Completeness | Number of ‘no return’ | Number of returns ≥ 95.0% | Number of returns < 95.0% |
|---|---|---|---|
| London | 0 | 9 | 23 |
| Midlands and East | 0 | 24 | 35 |
| North | 4 | 18 | 40 |
| South | 0 | 13 | 29 |
Standard 2: Timely identification of babies with a null or incomplete result on CHIS
Description
The NBS programme relies on regular checks of CHIS to identify babies with a null or incomplete result within an effective timeframe. Reports are produced to identify these babies and action is taken to follow them up, according to local protocols.
CHRDs are asked to report whether they have a system in place that meets the standard for identifying babies with a null or incomplete NBS result for any of the 9 conditions.
There can be flexibility in the frequency and age range of reports – providing the method complies with the acceptable performance threshold. The following are permitted: daily checks of babies equal to or more than 17 days of age and equal to or less than 364 days of age, or weekly checks of babies equal to or more than 11 days of age and equal to or less than to 364 days of age.
Acceptable level
CHRD performs regular checks (ideally daily, minimum weekly) to identify babies ≥ 17 days and ≤ 364 days with a null or incomplete result.
Achievable level
CHRD performs regular checks (ideally daily, minimum weekly) to identify babies ≥ 14 days and ≤ 364 days with a null or incomplete result.
Figure 7: Number of CHRDs that search for missing results at 17 days (acceptable threshold), 14 days (achievable threshold), 2018 to 2019
| Regional summary | Number of CCGs meeting acceptable threshold | Number of CCGs meeting achievable threshold | Number of ‘no return’ |
|---|---|---|---|
| London | 0 | 32 | 0 |
| Midlands and East | 18 | 41 | 0 |
| North | 8 | 52 | 2 |
| South | 0 | 43 | 0 |
The Newborn Blood Spot Failsafe Solution (NBSFS) alerts maternity sites and CHRDs of babies born in England who have not been offered screening. It is unclear whether CHRDs checking NBSFS are reporting this as their process for identifying missing results. NBSFS does not receive notification of babies born outside England, so regular checks of the CHIS are still required.
4. Test
See the 5 recommendations relating to test.
Standard 3: Barcoded NHS number label is included on the blood spot card
Description
Use of the NHS number on the baby’s blood spot card is mandatory in England. Using a barcoded NHS number label reduces the risk of an inaccurate NHS number being recorded on the blood spot card, which would mean a repeat sample would need to be taken.
Numerator
Number of blood spot cards received by the laboratory with the baby’s NHS number on a barcoded label.
Denominator
Number of all blood spot cards received by the laboratory, including repeats and second samples. It excludes blood spot samples received from places that do not use an NHS number – for example Jersey and Guernsey.
Acceptable threshold
≥ 90.0%
Achievable threshold
≥ 95.0%
The increase in performance in 2017 to 2018 can be attributed to the fact that having barcoded labels became a standard in 2017. Previously, an NHS number was the acceptable measure and barcoded label was the achievable measure. Performance against this standard continues to improve. Northern Ireland, Scotland and Wales do not report against this standard.
Figure 8: Percentage of blood spot cards including a barcoded NHS number (or UK equivalent) 2010 to 2019, England
Data source: Newborn screening laboratories
A line chart showing gradual increase in performance from 39.1% in 2010 to 2011, to 85.9% in 2018 to 2019. A dip in performance can be seen in 2016 to 2017, when the new measure was implemented.
Figure 9: Percentage of blood spot cards including a barcoded NHS number (or UK equivalent) 2018 to 2019, by laboratory
| Laboratory | Performance (%) |
|---|---|
| Bristol | 92.92% |
| Cambridge | 94.92% |
| GOSH | 76.51% |
| Leeds | 81.50% |
| Liverpool | 83.29% |
| Manchester | 86.99% |
| Newcastle | 87.96% |
| Oxford | 78.67% |
| Portsmouth | 84.11% |
| SE Thames | 86.38% |
| Sheffield | 83.69% |
| SW Thames | 90.47% |
| West Midlands | 87.78% |
| England | 84.72% |
Standard 4: Timely sample collection
Description
It’s essential to take the blood spot sample promptly to give each screen positive baby the best possible chance of receiving early treatment. The health professional responsible for taking the blood sample should adhere to the guidelines for NBS sampling to ensure a valid sample is taken.
Numerator
Number of first blood spot samples excluding pre-transfusion samples, taken on day 5.
Denominator
Number of first blood spot samples taken excluding pre-transfusion samples.
Acceptable threshold
≥ 90.0%
Achievable threshold
≥ 95.0%
Figure 10: Percentage of samples taken day 5 to 8, 2015 to 2017, and on day 5, 2017 to 2019, UK
Data source: Newborn screening laboratories
A line chart showing performance of England, Northern Ireland, Scotland and Wales from 2015, to 2018 to 2019. Performance for all countries decreased in 2017 to 2018, with improvement only seen in England in 2018 to 2019.
Scotland accept samples to be taken on day 4 without asking for a repeat. In 2018 to 2019, 22.2% of samples were received on or before day 4. If included, the performance would be 88.4%.
Northern Ireland reported 94.3% of samples were taken on day 5, meeting the acceptable threshold and narrowly missing the achievable threshold.
Performance in England improved in 2018 to 2019, with 86.9% of samples taken on day 5. Four laboratories met the 90% acceptable threshold.
Wales reported 76.3% of samples were taken on day 5, but have not adopted this measure; 97.8% of samples in Wales were taken between days 5 and 8.
Figure 11: Percentage of samples taken before, on, and after, day 5, 2018 to 2019, UK
| Laboratory | Number of first samples taken on or before day 4 (excluding pre-transfusion samples) | Number of first samples taken on day 5 | Number of first samples taken on day 6 | Number of first samples taken on day 7 | Number of first samples taken on day 8 | Number of first samples taken on or after day 9 |
|---|---|---|---|---|---|---|
| Bristol | 74 | 33,148 | 3,495 | 664 | 158 | 421 |
| Cambridge | 26 | 24,391 | 1,077 | 171 | 101 | 386 |
| GOSH | 702 | 102,516 | 12,941 | 2,736 | 1,184 | 7,681 |
| Leeds | 156 | 34,654 | 3,673 | 663 | 178 | 655 |
| Liverpool | 170 | 25,286 | 1,462 | 208 | 63 | 206 |
| Manchester | 103 | 46933 | 3,861 | 616 | 170 | 714 |
| Newcastle | 86 | 26,683 | 2,575 | 794 | 134 | 371 |
| Oxford | 78 | 22,669 | 1,635 | 186 | 54 | 678 |
| Portsmouth | 78 | 28,411 | 2,267 | 243 | 55 | 150 |
| SE Thames | 181 | 46,898 | 4,442 | 731 | 274 | 1,041 |
| Sheffield | 283 | 53,677 | 9,133 | 2,046 | 417 | 952 |
| SW Thames | 62 | 43,110 | 4,792 | 1,063 | 369 | 1,152 |
| West Midlands | 89 | 60,948 | 3,452 | 485 | 172 | 889 |
| Northern Ireland | 91 | 21,728 | 728 | 82 | 38 | 365 |
| Scotland | 11,434 | 34,130 | 4,368 | 561 | 116 | 679 |
| Wales | 75 | 23,482 | 5,334 | 1,014 | 264 | 592 |
Data source: Newborn screening laboratories
Scotland does not measure day 4 as it is too early for sample collection, and therefore they have a large proportion of samples taken on day 4.
Figure 12: Percentage of samples on day 5, by laboratory, 2018 to 2019, UK
| Laboratory | % of samples taken on day 5 |
|---|---|
| England | 86.4% |
| Bristol | 87.3% |
| Cambridge | 93.3% |
| GOSH | 80.2% |
| Leeds | 86.7% |
| Liverpool | 92.3% |
| Manchester | 89.6% |
| Newcastle | 87.1% |
| Oxford | 89.6% |
| Portsmouth | 91.0% |
| SE Thames | 87.6% |
| Sheffield | 80.7% |
| SW Thames | 85.3% |
| West Midlands | 92.3% |
| England | 86.4% |
| Northern Ireland | 94.3% |
| Scotland | 66.2% |
| Wales | 76.3% |
Standard 5: Timely receipt of a sample in the newborn screening laboratory
Description
All samples must arrive within the screening laboratory as soon as possible after they have been taken. This enables the laboratory to analyse the sample at the earliest opportunity and also reduces the risk of deterioration.
Numerator
Number of blood spot samples received by laboratory less than or equal to 3 working days of sample collection excluding pre-transfusion samples.
Denominator
Number of blood spot samples received by laboratory excluding pre-transfusion samples.
Acceptable threshold
≥ 95.0%
Achievable threshold
≥ 99.0%
Table 1: Number and percentage of samples received by laboratories less than or equal to 3 working days of sample collection in 2018 to 2019
| Laboratory (number of babies) | Percentage of samples |
|---|---|
| Bristol (35,661) | 88.0% |
| Cambridge (25,880) | 96.0% |
| GOSH (113,046) | 92.9% |
| Leeds (39,599) | 93.9% |
| Liverpool (28,321) | 97.0% |
| Manchester (53,651) | 98.2% |
| Newcastle (28,971) | 94.2% |
| Oxford (26,262) | 89.4% |
| Portsmouth (31,062) | 96.7% |
| SE Thames (53,031) | 93.4% |
| Sheffield (66,256) | 94.5% |
| SW Thames (51,417) | 98.1% |
| West Midlands (68,428) | 97.4% |
| England total (621,585) | 94.6% |
| Northern Ireland (25,132) | 98.8% |
| Scotland (47,058) | 91.3% |
| Wales (not adopted standard) (28,922) | 82.4% |
| UK total (722,697) | 94.0% |
Data source: Newborn screening laboratories
Figure 13: Number of samples received in 4 working days in 2013 to 2017, and 3 working days in 2018 to 2019
Data source: Newborn screening laboratories. Please note the y-axis does not begin at zero.
A line chart showing performance of England, Northern Ireland, Scotland and Wales from 2014, to 2018 to 2019. Performance decreased in England, Northern Ireland and Wales in 2017 to 2018, but rose in Scotland.
The standard was changed in April 2017 from measuring samples received in the laboratory within 3 (achievable threshold) and 4 (acceptable threshold) days, to measuring all samples received within 3 working days of sample collection.
As shown in figure 18, England, Northern Ireland and Wales reported small increase in samples received in the laboratory within 3 working days in 2017 to 2018.
Northern Ireland met the acceptable threshold, reporting 98.8% of samples received in the laboratory within 3 working days.
Six laboratories in England reported over 95% meeting the acceptable threshold and overall 94.6% of samples were received in the laboratory within 3 working days.
Scotland reported 91.3%.
Wales has not adopted the new standard and work towards 4 working days standard. They reported 82.4% of samples were received in the laboratory within 3 working days and 93.9% within 4 working days.
Standard 6: Quality of the blood spot sample
Description
Good quality blood spot samples are vital to ensure that babies with rare but serious conditions are identified and treated early. Good quality samples should be obtained first time to prevent the need for avoidable repeats. Avoidable repeat samples can cause anxiety for parents, distress to babies and delays in the screening process. They are also a waste of resources.
Numerator
Number of repeat (second or subsequent) samples requested by the laboratory during the reporting period because the previous sample was:
- taken when the baby was too young (on or before day 4, where day of birth is day 0) – excluding pre-transfusion samples
- insufficient (small volume spots, blood not soaked through to the back of the blood spot card)
- unsuitable (for example incorrect blood application, compressed or damaged, missing or inaccurate details, expired card, in transit for more than 14 calendar days)
Where a repeat sample has been requested because the previous sample was taken too soon (less than 3 clear calendar days) after transfusion it will be excluded. Routine samples should be taken by day 8 at the latest.
Denominator
Number of first blood spot samples received by the laboratory during the reporting period
Acceptable threshold
≥ 2.0%
Achievable threshold
≥ 1.0%
New consensus guidelines on blood spot quality were introduced in April 2015, following which the percentage of avoidable repeats predictably rose. These percentages have since improved.
Five out of the 16 newborn screening laboratories reported avoidable repeat rate within the 2.0% acceptable threshold. Wales and Scotland both reported an increase in avoidable repeats from 2017 to 2018, with 8.1% and 4.7% respectively. Northern Ireland reported a 5.4% avoidable repeat rate. In England overall, 2.2% of samples were avoidable repeats, an improvement from 2.5% in 2017 to 2018.
Figure 14: Avoidable repeat request rates for UK countries 2012 to 2019
A line chart showing performance of England, Northern Ireland, Scotland and Wales from 2012 to the year 2018 to 2019. Performance lines show no obvious trend for England, Scotland or Wales over this period, but the avoidable repeat rate went up slightly in Northern Ireland.
In 2017 the achievable threshold increased from 0.5% to 1.0%.
Table 2: Avoidable repeat request rates in 2018 to 2019
| Laboratory (number of samples) | Taken when the baby was too young | Insufficient | Unsuitable | Avoidable repeat request rate |
|---|---|---|---|---|
| Bristol (35,007) | 0.16% | 0.70% | 1.57% | 2.43% |
| Cambridge (26,202) | 0.11% | 0.64% | 0.75% | 1.50% |
| GOSH (12,1284) | 0.16% | 0.57% | 1.41% | 2.13% |
| Leeds (40,275) | 0.39% | 1.05% | 1.49% | 2.93% |
| Liverpool (27,410) | 0.24% | 3.07% | 0.74% | 4.05% |
| Manchester (50,626) | 0.19% | 0.72% | 1.41% | 2.31% |
| Newcastle (30,643) | 0.26% | 0.84% | 1.23% | 2.33% |
| Oxford (26,503) | 0.29% | 0.36% | 1.12% | 1.78% |
| Portsmouth (31,338) | 0.12% | 0.47% | 0.83% | 1.42% |
| SE Thames (53,864) | 0.26% | 0.29% | 1.36% | 1.92% |
| Sheffield (66,573) | 0.11% | 1.08% | 1.90% | 2.02% |
| SW Thames (50,594) | 0.11% | 0.30% | 1.59% | 2.00% |
| West Midlands (69,464) | 0.13% | 1.48% | 0.24% | 1.85% |
| England total (629,783) | 0.18% | 0.84% | 1.25% | 2.16% |
| Northern Ireland (23,078) | 0.39% | 3.73% | 1.32% | 5.44% |
| Scotland (51,618) | 0.48% | 1.30% | 2.90% | 4.69% |
| Wales (30,527) | 0.15% | 3.70% | 4.26% | 8.30% |
| UK total (735,006) | 0.21% | 1.08% | 1.49% | 2.65% |
Data source: Newborn screening laboratories. To note, not all English laboratories ask for a repeat when the first sample was taken on or before day 4.
Figure 15: Breakdown of unsuitable and insufficient samples 2018 to 2019, UK
| Avoidable repeat sample category | UK |
|---|---|
| Insufficient sample | 7,942 |
| Date of sample missing/not accurately recorded | 3,153 |
| Incorrect blood application | 2,440 |
| NHS number missing/not accurately recorded | 1,888 |
| Compressed/ damaged | 1,449 |
| Expired card used | 515 |
| > 14 days in transit, too old for analysis | 469 |
| Date of birth not accurately matched | 466 |
| Discrepant IRT replicates, possible faecal contamination | 373 |
| Damaged in transit | 98 |
| Day 0 and day 5 on same card | 19 |
Figure 15 shows that the majority of unsuitable samples are due to insufficient blood. However, more than 5,000 babies needed a repeat blood spot test to be taken due to missing or incorrect information being recorded on the card.
Standard 7: Timely taking of a repeat blood spot sample
Description
Timely taking of a second blood spot sample is vital to maximise accuracy of the screening test and to ensure that clinical referral and treatment targets are met.
7a: CF
Acceptable threshold
≥ 95.0% of second blood spot samples taken on day 21 to day 24 (this allows for day 21 to fall on a weekend when a special visit is not warranted).
Achievable threshold
≥ 70.0% of second blood spot samples taken on day 21.
7b: CHT borderline
Acceptable threshold
≥ 95.0% of second blood spot samples taken as defined.
Achievable threshold
≥ 99.0% of second blood spot samples taken as defined.
7c: CHT preterm
Acceptable threshold
≥ 95.0% of second blood spot samples taken as defined.
Achievable threshold
≥ 70.0% of second blood spot samples taken as defined.
Laboratory information management systems do not currently support collection of data for this standard. Work is being done to redesign this standard to enable screening laboratories to report data against it.
5. Intervention
Standard 9: Timely processing of CHT and IMD (excluding HCU) screen positive samples
Description
Timely processing of all screen positive samples is vital to ensure that health benefits are achieved by reducing morbidity/mortality.
The proportion of CHT and IMD (excluding HCU) screen positive results available and clinical referral initiated within 3 working days of sample receipt by the screening laboratory.
Numerator
Number of positive screening results available and clinical referral initiated within 3 working days of sample receipt by screening laboratory.
Denominator
Number of positive screening results available.
Acceptable threshold
100% of babies with a positive screening result (excluding HCU) have a clinical referral initiated within 3 working days of sample receipt by screening laboratory.
Figure 16: Percentage of babies with a CHT and IMD (excluding HCU) positive screening result referred within 3 working days, per laboratory, 2018 to 2019
| Laboratory | Percentage of babies with a CHT and IMD (excluding HCU) positive screening result referred within 3 working days |
|---|---|
| Bristol | 100.0% |
| Cambridge | 100.0% |
| GOSH | 100.0% |
| Leeds | 98.0% |
| Liverpool | 100.0% |
| Manchester | 98.3% |
| Newcastle | 92.7% |
| Oxford | 100.0% |
| Portsmouth | 96.8% |
| SE Thames | 87.5% |
| Sheffield | 97.7% |
| SW Thames | 100.0% |
| West Midlands | 100.0% |
| Northern Ireland | 100.0% |
| Scotland | 100.0% |
| Wales | 100.0% |
Seven English screening laboratories in Northern Ireland, Scotland and Wales met the acceptable standard of 100.0% babies with a positive CHT or IMD screening result (excluding HCU) having a clinical referral initiated within 3 working days of sample receipt by screening laboratory.
6. Diagnosis
See the 2 recommendations relating to diagnosis.
Standard 11: Timely entry into clinical care
Numerator
Number of screen positive babies referred to specialist services who are seen by the condition-specific standard.
Babies who are clinically diagnosed prior to screening or have a known family history of a condition are not measured against standard 11 as they do not always follow the screening pathway.
6.1 Sickle cell disease (SCD)
See sickle cell and thalassaemia (SCT) screening: data trends and performance analysis for information on the NHS SCT Screening Programme.
6.2 CF
Screen positive babies with 2 cystic fibrosis transmembrane conductance regulator (CFTR) variants.
Description
A baby in whom CF is suspected should have their first clinical appointment by 28 days of age.
Figure 17: Screening outcome for babies who screened positive for CF with 2 variants, 2018 to 2019, UK
| Screening outcome | Number of babies |
|---|---|
| Confirmed | 152 |
| CFSPID | 22 |
| Excluded | 1 |
| Not reported | 28 |
In England, 171 babies were screened positive with 2 variants. Of these, 43 were diagnosed before screening. Out of the remaining 128 babies, 101 had age at appointment reported. A total of 94 babies were seen within the 28 days standard.
Northern Ireland reported 5 babies screened positive for CF with 2 variants. One was clinically diagnosed before screening, and the remaining 4 were seen within 28 days.
Scotland reported 17 babies screened positive for CF with 2 variants. Two were clinically diagnosed before screening, and 13 out of 15 of the remaining babies had age at appointment reported. Eleven of these babies were seen within 28 days.
Wales reported 10 babies screened positive for CF with 2 variants. Age at appointment was reported for 9 babies. Of the 9 babies, 8 were seen within 28 days.
Figures 18 and 19 (below) show the pathway points of each screen positive baby. Each vertical row of points represents one baby.
Figure 18: Age in days of screen positive babies with 2 variants at time of first sample, receipt in laboratory, referral and appointment, UK
Figure 18 is a spot plot to show the 4 stages of the screening pathway for each baby that screened positive for CF with 2 variants. The 4 stages are:
- age at blood spot
- receipt of sample in laboratory
- referral
- appointment
Green dotted lines show the threshold of 28 days by which time babies should have their first appointment. The chart shows that the majority of babies fall within this, but 10 babies have appointments after this age. The maximum age shown at appointment is 46 days.
CF – screen positive babies with one or no variants
Description
A baby in whom CF is suspected should have their first clinical appointment by 35 days of age.
Acceptable threshold
80.0% of babies attend first clinical appointment by 35 days of age.
Achievable threshold
100.0% of babies attend first clinical appointment by 35 days of age.
In England, 93 babies were screened positive with one or no variants. Of these, 4 were diagnosed before screening. Of the remaining 89, 50 babies had age at appointment reported. Forty-one babies were seen within the 35 days standard.
Northern Ireland reported 3 babies screened positive for CF with one or no variants, and all 3 babies were seen within 35 days.
Scotland reported 5 babies screened positive for CF with one or no variants, one baby was clinically diagnosed prior to screening and 3 of the remaining babies had age at appointment reported. Two babies were seen within 35 days.
Wales reported 18 babies screened positive for CF with one or no variants, age at appointment was reported for 12 babies and 11 of those babies were seen within 35 days.
Figure 19: Age in days of babies screened positive for CF with one or no variants, at time of first sample, second sample, referral and appointment, 2018 to 2019, UK
Data source: Newborn screening laboratories
Spot plot shows 4 stages of the screening pathway for each baby that screened positive for CF with one or no variants.
Green dotted lines show the threshold of 35 days, by which time babies should have their first appointment. The chart shows that the majority of babies fall within this, but 8 babies have an appointment after this age. The maximum age shown at appointment is 53 days.
Only babies with reported age at appointment are included in the graph. In addition, one baby was seen at 179 days. This baby had trisomy 13.
To note, Wales data does not include 0 variants.
Figure 20: Age in days at time of first appointment of CF screen positive babies, 2018 to 2019, UK
Figure 20 shows the age of all babies at first appointment. The majority of babies with 2 variants are seen within 21 days. Some outliers are seen as late as 37 days. Babies with one or no mutations are spread between 23 and 37 days. One outlier was at 42 days.
Data source: Newborn screening laboratories
CF screen positive data 2007 to 2019
Table 3: CF screen positive data 2007 to 2019
| Laboratory | Rate of CF screen positives 2007 to 2019 per 10,000 |
|---|---|
| Bristol | 5.78 |
| Cambridge | 4.23 |
| GOSH | 2.91 |
| Leeds | 4.04 |
| Liverpool | 5.47 |
| Manchester | 3.77 |
| Newcastle | 4.73 |
| Oxford | 2.79 |
| Portsmouth | 4.08 |
| SE Thames | 3.79 |
| Sheffield | 4.51 |
| SW Thames | 3.10 |
| West Midlands | 3.89 |
| England total | 3.92 |
| Northern Ireland | 5.77 |
| Scotland | 5.69 |
| Wales | 5.73 |
| UK total | 4.17 |
Data source: Newborn screening laboratories
CF protocols for England, Northern Ireland, Scotland and Wales
These protocols map the screening data for CF against the screening pathway followed for each country. The numbers in the white boxes show the number of babies at each stage.
To note, England and Scotland use the sample screening protocol.
Protocol 1: CF England
CF England protocol – text version
1. Day 5 blood spot sample: IRT assay
NBS sample received in the laboratory and tested for IRT ng/ml WB (whole blood)
2. Is IRT≥ cut off 1?
No: CF not suspected. End of pathway.
Yes: DNA analysis on 4 variant panel. Go to question 3.
3. Two CF variants detected?
Yes: Report CF suspected. End of pathway.
No: DNA analysis on 29 to 31 variant panel. Go to question 4.
4. Two CF variants detected?
Yes: Report CF suspected. End of pathway.
No: Go to question 5.
5. One CF variant detected?
Yes: Repeat blood spot taken and IRT measured against action limit. Go to question 6.
No: Repeat blood spot taken and IRT measured against 99.9th centile. Go to question 7.
6. Is IRT on second sample ≥ action limit?
Yes: CF suspected. End of pathway.
No: CF probable carrier. End of pathway.
7. Is IRT on second blood spot sample ≥ 99.9th centile?
Yes: Go to question 9.
No: CF not suspected. End of pathway.
8. Is IRT on second sample ≥ action limit?
Yes: Report as CF suspected. End of pathway.
No: Report as CF not suspected. End of pathway.
Protocol 2: CF Northern Ireland
CF Northern Ireland protocol – text version
1. Day 5 blood spot sample: IRT assay
NBS sample received in the laboratory and tested for IRT ng/ml WB
2. Is IRT≥ 99.5th centile?
Yes: DNA analysis on 4 variant panel. Go to question 3.
No: CF not suspected. End of pathway.
3. Two CF variants found?
Yes: Report CF suspected. End of pathway.
No: Go to question 4.
4. One CF variants found?
Yes: DNA analysis on extended panel. Go to question 5.
No: Go to question 6.
5. Two CF variants found?
Yes: Report CF suspected. End of pathway.
No: Go to question 8.
6. Is IRT ≥ 99.9TH centile?
Yes: IRT on second blood spot. Go to question 7.
No: CF not suspected. End of pathway.
7. Is IRT on second sample ≥ cut-off 2?
Yes: Go to question 9.
No: CF not suspected. End of pathway.
8. Is IRT on second sample ≥ action limit?
Yes: CF suspected. End of pathway.
No: CF probable carrier. End of pathway.
Protocol 3: CF Scotland
CF Scotland protocol – text version
1. Day 5 blood spot sample: IRT assay
NBS sample received in the laboratory and tested for IRT ng/ml WB
2. Is IRT≥ cut off 1?
Yes: DNA analysis on 4 variant panel. Go to question 3.
No: CF not suspected. End of pathway.
3. Two CF variants detected?
Yes: Report CF suspected. End of pathway.
No: DNA analysis on 29 to 31 variant panel. Go to question 4.
4. Two CF variants detected?
Yes: Report CF suspected. End of pathway.
No: Go to question 5.
5. One CF variant detected?
Yes: Repeat blood spot taken and IRT measured against action limit. Go to question 6.
No: Repeat blood spot taken and IRT measured against 99.9th centile. Go to question 7.
6. Is IRT on second sample ≥ action limit?
Yes: CF suspected. End of pathway.
No: CF probable carrier. End of pathway.
7. Is IRT on second sample ≥ action limit?
Yes: Report as CF suspected. End of pathway.
No: Report as CF not suspected.
Protocol 4: CF Wales
CF Wales protocol – text version
1. Day 5 blood spot sample: IRT assay
NBS sample received in the laboratory and tested for IRT ng/ml WB.
2. Is IRT < 99.5TH centile?
Yes: CF not suspected. End of pathway.
No: DNA analysis on sample. Go to question 3.
3. Two mutations detected?
Yes: Sweat test performed. Go to question 4.
No: Sweat test performed. Go to question 7.
4. Is sweat test result positive?
Yes: CF suspected. End of pathway.
No: Go to question 5.
5. Is sweat test result negative?
Yes: CF not suspected. End of pathway.
No: Go to question 6.
6. Is sweat test result inconclusive?
Yes: CF SPID (CF screen positive inconclusive diagnosis). End of pathway.
7. One mutation detected?
Yes: Sweat test. Go to question 8.
No: Go to question 5.
8. IRT ≥ 170 ng/ml?
Yes: Sweat test performed. Go to question 9.
No: CF not suspected. End of pathway.
9. Is sweat test result positive?
Yes: CF suspected. End of pathway.
No: CF not suspected. End of pathway.
6.3 CHT
Screen positive babies detected on first sample (not including preterm babies).
Description
A baby in whom CHT is suspected on the first sample should attend their first clinical appointment by 14 days of age.
Acceptable level
100% by 14 days of age.
In 2018 to 2019, 278 babies screened positive for CHT on first sample in England. There were 6 in Northern Ireland, 27 in Scotland and 15 in Wales.
In total, 7 babies were diagnosed clinically before screening in England. Of the 253 babies with age data reported in England, 231 (91.3%) were seen within 14 days, 5 out of 6 (83.3%) in Northern Ireland, 25 out of 27 (92.6%) in Scotland and 14 out of 15 (93.3%) in Wales.
Figure 21: Age in days of babies screened positive for CHT on routine sample, 2018 to 2019, UK
Figure 21 shows the majority of babies were seen within the 14 days acceptable threshold, some outliers between 17 and 23 days. Two outliers are 35 and 37 days of age.
CHT – screen positive babies detected on second sample (not including preterm babies)
Description
A baby in whom CHT is suspected on a repeat blood spot sample that follows a borderline thyroid stimulating hormone (TSH) should have their first clinical appointment by 21 days.
Acceptable threshold
100% by 21 days of age.
In 2018 to 2019, 225 babies screened positive for CHT on second sample in England, 5 in Northern Ireland, 14 in Scotland and 14 in Wales. Out of all 4 countries, only one baby was diagnosed clinically prior to screening in Scotland.
Of the 203 babies with age data reported in England, 167 (82.3%) were seen within 21 days, 4 out of 5 (80%) in Northern Ireland, 11 out of 13 (91.7%) in Scotland and 10 out of 14 (71.4%) in Wales.
Figure 22: Age in days of babies screened positive for CHT on second sample, 2018 to 2019, UK
Figure 22 shows that most babies were seen within the 21 days acceptable threshold, some outliers between 21 and 35 days. Two outliers are 79 and 81 days of age.
Figure 23: Treatment status of CHT screen positive babies at time of first appointment by screening category, 2018 to 2019, UK
| Has baby started on thyroxine at the first appointment? | CHT suspected on routine sample | CHT suspected on repeat sample | Babies born < 32 weeks gestation |
|---|---|---|---|
| Yes | 261 | 145 | 24 |
| No | 9 | 26 | 4 |
| Thyroxine not given and baby discharged | 4 | 8 | 10 |
| Thyroxine not given but follow up required | 10 | 28 | |
| Not reported | 40 | 53 | 13 |
Data source: Newborn screening laboratories
Protocol 5: CHT routine
CHT routine protocol – text version
1. Routine newborn blood spot (NBS) screening
Routine NBS screening is completed on day 5 in line with the newborn blood spot screening pathway. Once the sample has been received in the laboratory, perform TSH analysis (in singleton). The analytical cut-off is 6.0 mU/L whole blood (WB).
2. Is the TSH equal to or greater than the analytical cut-off of 6.0 mU/L WB?
Yes: Re-test for TSH in duplicate from the same blood spot card, but using a different spot(s). Action is taken on the triplicate mean result. The action cut-off is 8.0 mU/L WB. Go to question 3.
No: Report ‘CHT not suspected’. No further action required. End of pathway.
3. Is the TSH equal to or greater than the action cut-off of 8.0 mU/L WB mean?
Yes: Go to question 4.
No: Report ‘CHT not suspected’. No further action required. End of pathway.
4. Is the TSH equal to or greater than 20.0 mU/L WB mean?
Yes: Report ‘CHT suspected’ and refer. End of pathway.
No: Request a ‘CHT borderline’ repeat sample. This should be taken 7 to 10 days after the previous sample was taken. Once the ‘CHT borderline’ repeat sample has been received in the laboratory, test for TSH in duplicate (ideally discs should be punched from different blood spots). Go to question 5.
5. Is the TSH equal to or greater than the action cut-off of 8.0 mU/L WB mean?
Yes: Report ‘CHT suspected’ and refer. End of pathway.
No: Report ‘CHT not suspected’. No further action required. End of pathway.
CHT – screen positive preterm babies (born at less than 32 weeks)
In total, 39 babies that screened positive for CHT were born at less than 32 weeks gestation in the UK from 2018 to 2019. Of these, 13 babies were screen positive on routine sample, 9 were CHT suspected on preterm repeat, double borderline sample. There were 14 CHT suspected on preterm repeat at 28 day or discharge, and 3 CHT suspected on repeat TSH > 20 following a borderline initial result.
Figure 23 shows the treatment outcomes of these babies.
Protocol 6: CHT preterm protocol
CHT preterm protocol – text version
1. Routine newborn blood spot (NBS) screening
Offer routine NBS screening for all preterm babies (babies born at less than 32 weeks gestation). Gain consent. Take the NBS sample on day 5 (day of birth is counted as day 0) in line with the newborn blood spot screening pathway. Go to question 2.
2. Does the routine NBS sample result indicate that CHT is suspected?
Yes: Report ‘CHT suspected’ and refer. End of pathway.
No: Go to question 3.
3. Does the routine NBS sample result indicate that CHT is not suspected?
Yes: Request a ‘CHT preterm’ repeat sample. Take the ‘CHT preterm’ repeat sample on Day 28 or on discharge home (whichever is sooner). Go to question 5.
No: Request a ‘CHT borderline’ repeat sample. Take the ‘CHT borderline’ repeat sample 7 to 10 days after the previous sample was taken. Go to question 4.
4. Does the ‘CHT borderline’ sample result indicate that CHT is suspected?
Yes: Report ‘CHT suspected’ and refer. End of pathway.
No: Request a ‘CHT preterm’ repeat sample. Take the ‘CHT preterm’ repeat sample on Day 28 or on discharge home (whichever is sooner). Go to question 5.
5. Does the ‘CHT preterm’ sample result indicate that CHT is suspected?
Yes: Report ‘CHT suspected’ and refer. End of pathway.
No: Go to question 6.
6. Does the ‘CHT preterm’ sample result indicate that CHT is not suspected?
Yes: Report ‘CHT not suspected’. No further action required. End of pathway.
No: Request a ‘CHT borderline’ repeat sample. Take the ‘CHT borderline’ repeat sample 7 to 10 days after the previous sample was taken. Go to question 7.
7. Does the ‘CHT borderline’ sample result indicate that CHT is suspected?
Yes: Report ‘CHT suspected’ and refer. End of pathway.
No: Report ‘CHT not suspected’. No further action required. End of pathway.
CHT screen positive data 2018 to 2019
In 2018 the national TSH cut off was lowered to 8 for a borderline TSH sample. Previously, laboratories used different cut off values which resulted in a lack of clarity around the true screen positive rate for CHT. 2018 to 2019 was the first year of data to compare all laboratories using the national cut off of 8.0 m/UL.
Figure 24: CHT screen positive data 2007 to 2019, by laboratory
Figure 24 shows the CHT screen positive rate based on previous 11 years of data from 2007 to 2018 alongside data collected from 2018 to 2019. The majority of laboratories have seen an increase in CHT screen positive cases since 8.0 m/UL was mandated.
Data source: Newborn screening laboratories
6.4 PKU
Description
A baby in whom PKU is suspected should attend their first clinical appointment by 14 days of age.
Acceptable level
100% by 14 days of age.
In total, 85 babies were screened positive for PKU in England, 8 in Northern Ireland, 11 in Scotland and 6 in Wales. Northern Ireland and Wales reported all babies were seen within the 14 day standard. England reported 2 babies were seen at 15 and 16 days of age, and Scotland reported one baby was seen at 18 days. Age at appointment was not reported for 13 babies in England and one baby in Scotland.
Figure 25: Age at first appointment for PKU screen positive babies, 2018 to 2019, UK
Data source: Newborn screening laboratories
Figure 25 shows that most babies are seen within the 14 days acceptable threshold. Three outliers were seen at 15, 16 and 18 days.
Figure 26: Rate of PKU screen positive babies per 10,000 screened, by laboratory, 2007 to 2019
| Laboratory | Rate of PKU screen positives per 10,000 |
|---|---|
| Bristol | 0.80 |
| Cambridge | 1.66 |
| GOSH | 0.90 |
| Leeds | 1.27 |
| Liverpool | 1.27 |
| Manchester | 1.45 |
| Newcastle | 1.46 |
| Oxford | 1.05 |
| Portsmouth | 0.84 |
| SE Thames | 1.10 |
| Sheffield | 1.58 |
| SW Thames | 0.82 |
| West Midlands | 0.95 |
| England | 1.13 |
| Northern Ireland | 2.62 |
| Scotland | 1.67 |
| Wales | 1.75 |
| UK TOTAL | 1.24 |
Figure 27: Treatment of PKU screen positive babies, from 2018 to 2019, UK
| Adjusted number without extra info | |
|---|---|
| PKU confirmed and treatment needed | 75 |
| Non-PKU (for example, biopterin disorders) | 9 |
| No persistent abnormalities – false positive (PKU excluded) | 7 |
| PKU monitoring required | 12 |
| Not reported | 4 |
| HPU | 3 |
Protocol 7: PKU screening
PKU screening protocol – text version
1. Routine NBS screening
Routine NBS screening is completed on day 5 in line with the NBS screening pathway. Once the sample has been received in the laboratory, perform phenylalanine (Phe) analysis.
2. Is Phe ≥ 200 µmol/L?
Yes: Repeat Phe in duplicate. Measure tyrosine in duplicate. If initial sample is insufficient for duplicate tests and Phe is 200 µmol/L arrange urgent referral to PKU team. Go to question 3.
No: PKU not suspected. No further action. End of pathway.
3. Is Phe ≥ 240 µmol/L? (Mean)
Yes: Go to question 4.
No: Go to question 5.
4. Is Tyrosine ≥ 240 µmol/L? (Mean)
Yes: PKU not suspected. Other condition suspected. Refer to specialist clinician. Any remaining sample recommend for galactosaemic testing. Other diagnosis – test per local protocol. End of pathway.
No: PKU suspected. Refer to PKU team. End of pathway.
5. Is tyrosine ≥ 240 µmol/L? (Mean)
Yes: PKU not suspected. Other condition suspected. Refer to specialist clinician. Any remaining sample recommend for galactosaemic testing. Other diagnosis – test per local protocol. End of pathway.
No: PKU not suspected. No further action. End of pathway.
6.5 MCADD
MCADD screen positive data 2018 to 2019
Description
A baby in whom MCADD is suspected should attend their first clinical appointment by 14 days of age.
Acceptable level
100% by 14 days of age.
In total, 66 babies were screened positive in England in 2018 to 2019. Unusually, Northern Ireland, Scotland and Wales reported no MCADD screen positive babies. Of those babies who screened positive in England, 7 had family history of MCADD or were clinically diagnosed prior to screening. Of the remaining 59 babies, age at appointment was reported for 56 of them. Of these, 54 were seen in less than or equal to 14 days. Two babies who had their first appointment over 200 days of age moved in to the country.
Figure 28: Age at first appointment for MCADD screen positive babies, UK, 1 April 2018 to 31 March 2019
Figure 28 shows that most babies were seen within the 14 days acceptable threshold. Two outliers were seen over 14 days of age.
Data source: Newborn screening laboratories
Figure 29: Treatment outcome for MCADD screen positive babies from 2018 to 2019, UK
| Treatment outcome for MCADD screen positive babies | England |
|---|---|
| MCADD | 52 |
| Unaffected carrier | 2 |
| No persistent abnormality, false positive | 2 |
| Not reported | 9 |
| Other condition | 1 |
Data source: Newborn screening laboratories
MCADD screen positive data 2008 to 2019
Figure 30: Rate of MCADD screen positives per 10,000 babies tested, by laboratory, 2008 to 2019
| MCADD 2008 to 2009 | Rate of MCADD screen positives per 10,000 babies 2008 to 2019 |
|---|---|
| Bristol | 0.84 |
| Cambridge | 1.36 |
| GOSH | 0.72 |
| Leeds | 1.41 |
| Liverpool | 1.10 |
| Manchester | 1.14 |
| Newcastle | 1.09 |
| Oxford | 1.28 |
| Portsmouth | 1.05 |
| SE Thames | 0.72 |
| Sheffield | 1.44 |
| SW Thames | 0.80 |
| West Midlands | 0.84 |
| England | 1.01 |
| Northern Ireland | 1.03 |
| Scotland | 0.36 |
| Wales | 0.78 |
| TOTAL | 0.97 |
Data source: Newborn screening laboratories
Protocol 8: MCADD screening
MCADD screening protocol – text version
1. Routine newborn blood spot (NBS) screening
Routine NBS screening is completed on day 5 in line with the NBS screening pathway. Once the sample has been received in the laboratory, perform underivatized MRM octanoylcarnitine (C8).
2. Is C8≥ 0.40µmol/L?
Yes: Re-test C8 in duplicate*. Test for C10. Go to question 3.
No: MCADD not suspected. No further action. End of pathway.
3. Is C8≥ 0.50µmol/L?
Yes: Obtain C10 results. Calculate C8:C10 ratio. Go to question 4.
No: MCADD not suspected. No further action. End of pathway.
4. Is ratio C8:C10 ≥ 10?
Yes: Refer as MCADD suspected. Carry out diagnostic testing. Go to question 5.
No: MCADD not suspected. No further action. End of pathway.
5. Is 985A>G homozygous?
Yes: MCADD. End of pathway.
No: Go to question 6.
6. Is 985A>G heterozygous?
Yes: Go to question 7.
No: Go to question 8.
7. Is the sample biochemically abnormal?
Yes: Go to question 9.
No: Go to question 10.
8. Is the sample biochemically abnormal?
Yes: Go to question 10.
No: No persistent abnormality, false positive. End of pathway.
9. EMS 985A>G /other mutation?
Yes: MCADD. End of pathway.
No: Unaffected MCADD carrier. End of pathway.
10. Are 2 EMS mutations found?
Yes: MCADD. End of pathway.
No: Go to question 11.
11. Is one EMS mutation found?
Yes: Likely unaffected MCADD carrier. *Review and consider need for further biochemical investigations. End of pathway.
No: MCADD unlikely. *Review and consider need for further biochemical investigations. End of pathway.
6.6 MSUD, IVA, GA1 and HCU
MSUD, IVA, GA1 and HCU screen positive data 2018 to 2019
Description
A baby in whom MSUD, IVA, or GA1 is suspected should attend their first clinical appointment by 14 days of age.
Acceptable level
100% by 14 days of age.
In the UK, 8 babies were screen positive for MSUD. One baby had a family history of MSUD. Six had their age at first appointment reported and of those, 5 were seen within 14 days. One baby that moved into the country was seen at 353 days of age.
A total of 13 babies screened positive for IVA, with one baby having a family history of IVA.
All of the remaining 12 babies had their first appointment on or before 14 days of age.
Twelve babies screened positive for GA1. One baby had a family history of GA1 and all of the remaining 11 babies were seen on or before 14 days of age.
Four babies screened positive for HCU in the UK. Their ages at first appointment ranged between 15 and 23 days.
Figure 31. Outcomes for MSUD, IVA, GA1 and HCU from 2018 to 2019, UK
| Outcome | Confirmed | Mild (IVA only) | Other | False positive | Not reported |
|---|---|---|---|---|---|
| MSUD | 4 | 0 | 0 | 4 | 0 |
| IVA | 1 | 1 | 2 | 8 | 1 |
| GA1 | 7 | 0 | 0 | 5 | 0 |
| HCU | 3 | 0 | 0 | 0 | 1 |
6.7 Timeliness of results
Standard 12a: Timeliness of results to parents (CCG responsibility at birth)
Description
Proportion of babies with a not suspected result for each of the conditions for whom a not suspected results letter was despatched directly to parents by the CHRD within 6 weeks of birth.
Acceptable threshold
100% of babies with a not suspected result for each of the conditions for whom a not suspected results letter was despatched directly to parents by the CHRD within 6 weeks of birth.
In total, 8 CCGs were unable to provide data for standard 8a as health visitors give parents the results letter. A further 2 CCGs did not return data for standard 12a or 12b. Data completeness for the rest of England was good.
Figure 32: Timeliness of results to parents from 2018 to 2019, England and sub-regions
The following table shows the percentage of babies with a not suspected result for whom a results letter was despatched directly to parents by the CHRD within 6 weeks of birth.
| Regional summary | % of letters despatched directly |
|---|---|
| England | 99.00% |
| London | 98.50% |
| Midlands and East | 99.40% |
| North | 98.70% |
| South | 99.20% |
Figure 33: Standard 12a, completeness of data, England, from 2018 to 2019
| Regional summary | Number of non submissions | Number with no data | No complete returns | No <100% | No meeting achievable threshold (100%) |
|---|---|---|---|---|---|
| England | 2 | 8 | 185 | 139 | 56 |
| London | 0 | 0 | 32 | 32 | 0 |
| Midlands and East | 0 | 0 | 59 | 47 | 12 |
| North | 2 | 8 | 52 | 32 | 20 |
| South | 0 | 0 | 42 | 28 | 14 |
Standard 12b: Timeliness of results to parents (movers in)
Description
Proportion of babies with a not suspected result for each of the conditions screened for whom a not suspected results letter was despatched directly to parents by the CHRD within 6 weeks of notification of moving in.
Acceptable threshold
100% of babies with a not suspected result for each of the conditions for whom a not suspected results letter was despatched directly to parents by the CHRD within 6 weeks of notification of moving in.
Figure 34: Timeliness of results to parents, movers in, England and sub regions from 2018 to 2019
| Regional summary | Performance |
|---|---|
| England | 94.00% |
| London | 98.00% |
| Midlands and East | 94.90% |
| North | 91.20% |
| South | 85.00% |
Figure 35: Completeness of data, movers in, England, 2018 to 2019
| Regional summary | Number of non-submissions | Number with no data | No <100% | No meeting achievable threshold (100%) |
|---|---|---|---|---|
| England | 2 | 16 | 123 | 72 |
| London | 0 | 0 | 31 | 1 |
| Midlands and East | 0 | 0 | 40 | 19 |
| North | 2 | 12 | 31 | 17 |
| South | 0 | 4 | 21 | 17 |
Health visitors have the responsibility for giving results to parents in some areas. This has meant that some CHRDs are unable to report against this standard.