This document explains the NHS newborn blood spot (NBS) screening programme and conditions identified through the programme.
Screening is the process of identifying people who appear healthy but may be at increased risk of a disease or condition.
The process is not perfect and in every screening there are a number of false positives and false negatives.
The NHS newborn blood spot (NBS) screening programme aims to identify rare conditions that can lead to serious illness, development problems and even death.
NHS Choices has further information that parents may find helpful.
Evidence and recommendations
The UK National Screening Committee (UK NSC) assesses evidence and makes recommendations to the 4 UK governments about population screening programmes.
A health professional takes blood from a child’s heel and sends the sample for testing. The screening tests for you and your baby leaflet sets out the test process and purpose.
There is a clear pathway to care. Healthcare professionals should be familiar with these pathways and the timeframe in which to refer babies.
Midwives carry out heel prick tests when babies are 5 days old (the first day of life being day 0).
Babies who are new to the country or are yet to have a heel prick test are eligible for testing up to a year old. This excludes the cystic fibrosis screening test, which is not reliable after 8 weeks of age.
The NBS programme screens for 9 conditions. Each condition is chosen on the basis that the benefits of screening outweigh the risks. Currently those conditions are:
- sickle cell disease (SCD)
- cystic fibrosis (CF)
- congenital hypothyroidism (CHT)
inherited metabolic diseases (IMDs). These are genetic diseases that affect the metabolism.
- phenylkentonuira (PKU)
- medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- maple syrup urine disease (MSUD)
- isovaleric acidaemia (IVA)
- glutaric aciduria type 1 (GA1)
- homocystinuria (HCU)
Parents and health care professionals may find the condition leaflets helpful to understand these rare conditions. Parents can opt out of screening for the conditions, however parents can only opt out of IMDs as a group and not by each condition.
Parents must verbally agree to the NBS test. This consent must be noted by the health professional in the baby’s child health record.
A code of practice sets out arrangements for the retention, storage and potential use of residual NBS screening samples.
These samples may be used for anonymous public health monitoring and research. Occasionally, researchers may contact parents to ask for their permission to use the sample in a way that identifes their child. Parents can withdraw consent to future contact about identifiable research but not anonymous research.
Health professionals can use the continuing professional development (CPD) online learning modules to keep their knowledge up to date.
The guide to taking and recording a sample provides further information on the process.
Babies can miss screening and blood spot samples can sometimes fail to reach screening laboratories or get delayed in transit.
Babies affected by screened conditions can suffer serious harm by the time these failures get detected. In some cases they are not detected at all.
The impact on lives of babies and parents, as well as costs of treatment and care is avoidable through the use of the newborn blood spot failsafe solution (NBSFS).
The guidelines on handling patient information explain how to use and safeguard personal data in screening.
Contact the screening programme
NHS population screening helpdesk
Public Health England Zone B
Floor 2 Skipton House
80 London Road
Contact form http://legacy.screenin...
Helpdesk phone number 020 3682 0890
The helpdesk and national programmes do not have access to screening results.
Parents: contact your midwife or health visitor for information on screening results.
Health professionals: contact the local screening team, screening laboratory or local child health records department.