Draft sct screening programme standards publication v0.6

SCT screening programme standards
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Standard 1: Coverage
Rationale To provide assurance that screening is offered to all eligible women and each
woman accepting screening has a screening result.
Timely information on screening coverage is important to identify trends and
monitor the effectiveness of service improvements.
Coverage is a measure of the delivery of screening to an eligible population. Low
coverage might indicate that:
• not all eligible women were offered screening
• those offered screening are not accepting the test
• those accepting the test are not being tested
Objective To maximise the impact of the screening programme in the eligible population
Criteria The proportion of pregnant women eligible for screening who are tested
Definitions Numerator: ‘tested women’ is the total number of ‘eligible women’ for whom a
screening result is reported; including
 known at risk couples referred directly for prenatal diagnosis (PND); repeat
testing must not delay referral
Denominator: ‘eligible women’ is the total number of pregnant women booked for
antenatal care during the reporting period, or presenting in labour without
previously having booked for antenatal care, excluding:
 women who miscarry between booking and testing
 women who opt for termination between booking and testing
 women who transfer out between booking and testing, i.e. do not have a result
 women who transfer in who have a result from a screening test performed
elsewhere in this pregnancy
Threshold Acceptable level: ≥ 95.0%
Achievable level: ≥ 99.0%
Mitigations/qualifications Requires matched cohort data
Direct referral to PND in known at risk couples must not be delayed due to new
guidelines to offer screening in every pregnancy
Reporting Reporting focus: maternity service
Data source: maternity service
Responsible for submission: maternity service
Reporting period: quarterly; data to be collated between 2 and 3 months after each
quarter end.
Deadlines: 30 September (Q1), 31 December (Q2), 31 March (Q3), 30 June (Q4)

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Standard 2: Timeliness of antenatal
screening test
Rationale To identify carrier and affected women by 10 weeks +0 days to allow the baby's
biological father to be offered testing and to offer PND to at risk couples by 12
weeks + 0 days of pregnancy
Objective To maximise the opportunity for informed choice
Criteria Proportion of samples tested by 10 weeks + 0 days gestation
Definitions Numerator ‘women tested by 10 weeks + 0 days gestation’ is the total number of
pregnant women for whom a sample was received in the laboratory and for whom
an antenatal sickle cell and thalassaemia screening result was reported by 10 weeks
+ 0 days gestation (≤70 days)
Denominator ‘women for whom sample received at laboratory’ is the total number
of pregnant women for whom an antenatal sickle cell and thalassaemia screening
sample was received at the laboratory
Calculation of gestational age, may be based on last menstrual period or ultrasound
scan
Threshold Acceptable level ≥ 50.0%
Achievable level ≥75.0%
Mitigations/qualifications Does not need to be matched cohort
Data source: antenatal screening laboratory
quarter end

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Standard 3: Completion of family origin
questionnaire (FOQ)
Rationale To interpret screening results in high prevalence areas and to identify women at
higher risk to be offered further testing in low prevalence areas
Objective To maximise accuracy of screening test
Criteria Proportion of samples that arrive in the laboratory accompanied by a completed
FOQ
Definitions Numerator ‘number of antenatal samples received in the laboratory with completed
FOQ’
Denominator ‘number of antenatal samples’ received by the laboratory
A completed FOQ must use the national template (paper or electronic format), and
must include:
 at least one box for the mother or options for ‘declined to answer’ or ‘don’t
know’ selected
 at least one box for the father or options for ‘declined to answer’ or ‘don’t
know’ selected
 gestational age or gestational age ‘not known’ recorded
Threshold Acceptable level: ≥ 95.0%
Achievable level: ≥ 99.0%
Mitigations/qualifications Does not need to be matched cohort
quarter end

Consultation: draft standards for Sickle cell and thalassaemia (SCT) screening programme standards 2016/2017
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Standard 4: Antenatal screening test
turnaround times
Rationale To report results promptly to help to achieve the offer of PND by 12+0 weeks
gestation
Objective To maximise the opportunity for informed choice
Criteria Proportion of samples reported within 3 working days
Definitions Numerator: number of antenatal results reported ≤ 3 working days of receipt of
sample in the laboratory
 count receipt of sample as day 1 when it is received in the specimen
reception in the first laboratory
 an interim report counts if there is likely to be a delay in producing a final
report e.g. recommending the baby’s father testing
 include samples that cannot be processed due to poor sample quality or
incomplete FOQ
Denominator: number of antenatal samples received in the laboratory
Threshold Acceptable ≥ 90.0%
Achievable ≥ 95.0%
Mitigations/qualifications
Reporting Reporting focus: antenatal screening laboratory
Responsible for submission: antenatal screening laboratory
Reporting period: annually for samples received in the laboratory in the previous
financial year
Deadline: 30th June

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Standard 5: Timely counselling and offer of
prenatal diagnosis (PND) to couples at risk
of having an affected infant
Rationale To facilitate uptake of PND, couples must be screened and counselled early in
pregnancy.
Approximately half of at risk couples decline PND; people may be declining PND
because the offer is made late in the pregnancy
Objective To maximise the opportunity for parents at risk of having an affected infant to make
informed and timely reproductive choices
Criteria Proportion of at risk couples offered PND by 12 weeks +0 days gestation
Definitions Numerator: Number of at risk couples who attend counselling and are offered PND
for sickle cell disease or thalassaemia by 12+0 weeks gestation
Denominator: Number of at risk couples who attend counselling and are offered
PND for sickle cell disease or thalassaemia
Calculation of gestational age may be based on last menstrual period or ultrasound
scan
Exclusions: At risk women without baby’s biological father result must still be
offered PND but data on these women is not part of this standard
Threshold Acceptable ≥50.0%
Achievable ≥75.0%
Reporting period: annually for women tested in the previous financial year
Deadline: 30th June
Equity impact Women who are at risk of having an affected child and cannot arrange a sample
from the baby’s biological father must still be offered PND but data will not be
requested on these women. The same standard must apply but identifying the
denominator is complex and the impact on data providers considered to be too
great.
The expectation is that at risk women without baby’s biological father result can be
offered PND sooner and that this standard will be a surrogate marker for all.

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Standard 6: Timeliness of prenatal
diagnosis (PND)
Rationale There is a known association between gestation at PND offer and uptake, with the
early offer being associated with greater uptake of PND. Advanced gestational age
may limit reproductive choices.
Objective To facilitate timely intervention and choice in procedure for those who accept PND
Criteria Proportion of PND tests performed by 12 weeks + 6 days
Definitions Numerator: number of pregnant women who have PND for sickle cell disease or
thalassaemia by 12+6 weeks gestation
Denominator: number of pregnant women who have PND for sickle cell disease or
thalassaemia
Includes:
 at risk couples
 women who are carriers of clinically significant haemoglobin variants or
thalassaemia who opt for PND testing and do not have baby’s biological
father’s result
 women having PND for other reasons who are also identified as being at risk
of having a fetus affected by sickle cell disease or significant thalassaemia
and who consent to additional testing
 women who had assisted conception whose partners are carriers of a
clinically significant haemoglobin variant or thalassaemia
Calculation of gestational age may be based on last menstrual period or ultrasound
scan
Threshold Acceptable level ≥ 50.0%
Data source: PND laboratory
Responsible for submission: PND laboratory
Deadline: 30th October

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Standard 7: Timely reporting of prenatal
diagnosis results to parents
Rationale To provide parents with information about living with and supporting an affected
child; to prepare parents for their baby’s newborn screening result; or to ensure
timely referral for termination of pregnancy
Objective Maximising informed reproductive choice
Criteria Proportion of women/couples receiving results and counselling within 5 working
days of PND procedure
Definitions Numerator: number of women/couples at risk of having a fetus affected by sickle
cell disease or thalassaemia who are informed and counselled regarding the result ≤
5 working days of prenatal diagnostic test
Denominator: number of women/couples at risk of having a fetus affected by sickle
cell disease or thalassaemia who are informed and counselled regarding the result
following prenatal diagnostic test
Threshold Acceptable level ≥70.0%
Deadline: 30th June

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Standard 8: Accuracy of the newborn
screening test
Rationale To ensure the efficacy of the screening programme the test should have certain
levels of specificity and sensitivity. It is therefore, important to monitor the accuracy
of the test
Objective To identify, with specified sensitivity babies born with conditions where early
intervention is likely to be beneficial
Criteria Proportion of diagnostic results that are consistent with screen positive result
Definitions Numerator: number of babies with a diagnostic result that is consistent with the
screen positive results Hb-FS, Hb-FSC and other specified conditions
Denominator: number of babies with screen positive results Hb-FS, Hb-FSC and
other specified conditions
Specified conditions to be detected in newborn screening: HbSS, HbSC, HbS/β
thalassaemia (S/β+, S/β°, HbS/β, HbS/γβ, Lepore), HbS DPunjab, HbS/E, HbS
OArab, HbS/HPFH
Exclusions:
other clinically significant haemoglobinopathies likely to be detected as by-products
of newborn screening including β thalassaemia major, Hb E/β thalassaemia and β
thalassaemia intermedia
Sickle cell carriers and carriers of Hb C, Hb D, Hb,E, and Hb OArab
Threshold Acceptable standard ≥99.0% accuracy for specified conditions
Achievable standard: ≥99.5% accuracy for specified conditions
Mitigations/qualifications False negatives (specificity) data collected by the newborn outcome project suggests
that it is rare for infants to present clinically with Hb-SS, Hb-SC and other specified
conditions with a screen negative result (false negative)
Reporting Reporting focus: NBS laboratory
Data source: newborn outcomes project
Responsible for submission: newborn outcomes project
Reporting period: annually for samples received in the laboratory in the previous
financial year
Deadline: 31st July tbd

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Standard 9: Timely reporting of screen
positive results to parents
Rationale To provide timely results to parents and ensure safe transition from screening into
care and to confirm diagnosis. This includes providing parents with information
about the screening result, living with and supporting an affected child, and the care
pathway.
Objective To optimise individual and population health outcomes in babies born with
conditions where early intervention is likely to be beneficial
Criteria Proportion of infants seen by a healthcare professional within 28 days of age
Definitions Numerator: number of infants with screen positive result seen by a healthcare
professional ≤ 28 days of age
Denominator: number of infants with screen positive result
Specified conditions to be detected in newborn screening: HbSS, HbSC, HbS/β
thalassaemia (S/β+, S/β°, HbS/β, HbS/γβ, Lepore), HbS/DPunjab, HbS/E,
HbS/OArab, HbS/HPFH, Hb S with any other variant and no Hb A, and other clinically
significant Haemoglobinopathies likely to be detected as by-products of newborn
screening including β thalassaemia major, Hb E/β thalassaemia, and β thalassaemia
intermedia
Threshold Acceptable standard ≥ 90.0 %
Achievable standard: ≥95.0%
Reporting Reporting focus: newborn screening laboratory
Data source: newborn screening laboratory
Responsible for submission: newborn screening laboratory
Reporting period: annually for infants born in the previous financial year
Deadline: 31st July

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Standard 10 Timely receipt into Specialist
Haemoglobinopathy Centres (SHC)
Rationale To ensure timely and appropriate management, infants with positive screening
results must attend a SHC by 90 days of age. SHCs have a lead responsibility for the
care of all patients with sickle cell disease and significant thalassaemia in their
geographical region.
Objective To optimise individual and population health outcomes in babies born with
conditions where early intervention is likely to be beneficial
Criteria Proportion of infants with a positive screening result followed up and entered into
care within 90 days of age
Definitions Numerator: number of infants with screen positive result seen at a SHC ≤ 90 days of
age
Denominator: number of infants with screen positive result seen at SHC
Screen positive results: specified conditions to be detected in newborn screening:
HbSS, HbSC, HbS/β thalassaemia (S/β+, S/β°, HbS/β, HbS/γβ, Lepore),
HbS/DPunjab, HbS/E, HbS/OArab, HbS/HPFH, Hb S with any other variant and no Hb
A, and other clinically significant Haemoglobinopathies likely to be detected as by-
products of newborn screening including β thalassaemia major, Hb E/β thalassaemia
and β thalassaemia intermedia.
Inclusions: SHC may include a local centre working as part of a network
Effective timeframe: It is generally accepted that penicillin prophylaxis should start
by 3 months of age in children with sickle cell disease, infants with significant
thalassaemia do not require penicillin prophylaxis but are still expected to attend a
SHC by 90 days of age
Threshold Acceptable standard ≥ 90.0%
Achievable standard: ≥95.0%
Reporting Reporting focus: SHC geographical area of responsibility
Data source: newborn outcomes project
Responsible for submission: newborn outcomes project
Reporting period: annually for infants born in the previous financial year
Deadline: 31st July

Draft sct screening programme standards publication v0.6

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Draft sct screening programme standards publication v0.6