This overview is aimed at professionals working in the NHS newborn blood spot (NBS) screening programme.
Public information about NBS screening is available on NHS.UK.
The NHS recommends NBS screening because it can improve health and prevent severe disability or even death. However, screening is always a choice and parents can decline it for their baby if they wish.
Public Health England (PHE) produces information about patient confidentiality in population screening programmes.
It is committed to reducing inequalities and variation in participation to help make sure everyone has fair and equal access to screening services.
All babies up to but not including their first birthday are eligible for NBS screening for the 9 conditions listed below. This excludes testing for one of the conditions, cystic fibrosis (CF), which is unreliable after 8 weeks of age.
Babies who are new to the country or are yet to have a blood spot test are eligible for testing up to a year old.
Conditions screened for
The NBS screening programme enables early identification, referral and treatment of babies with 9 rare but serious conditions. These are:
- sickle cell disease (SCD)
- cystic fibrosis (CF)
- congenital hypothyroidism (CHT)
- phenylketonuria (PKU)
- medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- maple syrup urine disease (MSUD)
- isovaleric acidaemia (IVA)
- glutaric aciduria type 1 (GA1)
- homocystinuria (HCU)
The last 6 conditions are inherited metabolic diseases (IMDs).
Health professionals should ask parents if there is a family history of the 9 NBS conditions during pregnancy. If there is, then the health team should create a care plan which could involve an additional early blood spot sample.
It is the health professional’s responsibility to explain and offer parents screening for their baby. The health professional should give the Screening tests for you and your baby leaflet to parents. The leaflet is available in 13 languages and there are easy guides which explain the screening tests in more straightforward language, with pictures.
A health professional will usually take a blood spot sample on day 5 (day of birth is day 0) from a child’s heel and send the sample for testing.
There are guidelines which health professionals need to follow to take a good quality sample.
Samples should be sent to the screening laboratory for analysis the same day they are taken. Parents receive the results within 6 weeks.
Using the NBS fail safe solution (an IT system which identifies babies born in England who have missed screening) helps prevent mistakes being made, for example, babies being missed from screening, NBS samples not reaching screening laboratories or samples getting delayed in transit.
NBS screening is one of 11 NHS national population screening programmes available in England.
The UK National Screening Committee (UK NSC) makes recommendations to ministers in the 4 UK countries on all aspects of population screening. It makes sure screening provides more benefits than harms, at a reasonable cost to the NHS.
There is a separate UK NSC recommendation for each of the 9 NBS conditions.
Data and intelligence
PHE publishes reports setting out annual data collected from the NBS screening programme.
Key performance indicator (KPI) data reports are available for all 11 national screening programmes.
Requests for screening data and research
All requests for NBS screening data need to be approved by the NHS antenatal and newborn screening programmes research advisory committee.
PHE produces general guidance about the terms of reference for NHS population screening programme research advisory committees.
Screening commissioners must follow the NBS service specification and supporting documents to make sure screening services are fit for purpose and meet required standards.
The role of the screening quality assurance service is to:
- assess the quality of local screening programmes
- monitor compliance with standards
- support services with improving quality
- undertake regional level quality assurance (QA) visits
The programme specific operating model for quality assurance of the antenatal and newborn screening programmes should be read in conjunction with the operating model for PHE screening QA service: 2015/16 to 2017/18 and the NBS programme standards.
Workforce – education and training
Education and training resources are available for healthcare professionals working in NBS screening.
There are general resources to support screening professionals during their initial training and continuing professional development.
Keep up to date
Visit the Public Health England (PHE) screening blog to keep up to date with what is new in the programme, including the latest guidance. You can register to receive blog updates direct to your inbox.
PHE Screening also has its own Twitter account which has information and news on all national screening programmes.
Contact the screening team
Population screening helpdesk
133-155 Waterloo Road
Helpdesk phone number 020 3682 0890
The helpdesk is not for media enquiries and does not have access to screening results. For queries about results, contact your GP or local screening service. Order screening leaflets at www.gov.uk/phe/screening-leaflets.