Newborn screening brings life changing benefits to many children each year. However, it is only by the careful and continuing assessment of the outcome and impact of this early life intervention that we can improve both detection and treatment and optimise the screening programmes. The National Disease Registration Service (NDRS) provides an invaluable, well planned and safe environment to gather and analyse this data. Those of us working within the newborn screening programmes greatly appreciate the understanding, help and support offered by the members of the NDRS team and we look forward to strengthening these links as newborn screening develops and offers the best possible start in life to more children each year with rare disorders.
Introduction
The NHS Newborn Blood Spot Screening Programme (NHS NBS) screens for serious, rare but treatable conditions across England. All babies are born and resident in England, and babies who move in from abroad up to 1 year of age, are offered newborn blood spot screening. Knowing early on whether a baby might have or develop these conditions means they can start to be monitored and treated sooner. This can improve their long-term health and development and prevent severe disability.
For more information visit Newborn Blood Spot Screening Programme Overview - GOV.UK.
We collect data on the conditions screened on the newborn blood spot screening test from a variety of sources including clinical services and all newborn screening laboratories in England where the results show that a condition is suspected or confirmed. This information is routinely collected as part of our rare disease dataset and is instrumental in supporting direct patient care. This data supports the evaluation of screening programmes, participation in relevant clinical audits, and information sharing with clinical networks.
Evaluation of newborn screening for Severe Combined Immunodeficiency (SCID)
Severe Combined Immunodeficiency (SCID) is a rare inherited condition that occurs in about 1 in 40,000 babies, i.e. 16 babies each year, in England. Babies with this condition have a very poorly functioning immune system and, without treatment, are unlikely to survive beyond two years. Screening could help to find and treat babies with SCID earlier.
Following a recommendation from the UK National Screening Committee and ministerial approval in 2017, SCID newborn screening is being evaluated through an In-Service Evaluation (ISE) in England. The evaluation was launched in September 2021 to answer some important questions about the impact and effectiveness of screening and covered around two-thirds of the newborn population of England.
Specifically, for the SCID ISE, NDRS linked clinical datasets from both prospective and retrospective cohorts, encompassing screened and non-screened SCID patients. These datasets, along with information from SCID treatment centres in England, were integrated with national Hospital Episode Statistics (HES) and Office for National Statistics (ONS) data. The combined HES and ONS data provides valuable insights into secondary care activity and survival outcomes, which were essential for the clinical and economic evaluation of SCID screening in England.
Read the UK NSC blog for an update on the preliminary findings of the evaluation.
Last edited: 12 May 2026 2:43 pm
