Heel-prick test for every baby born in Wales will check for a tenth condition
Every baby born in Wales is screened through a small blood sample from the heel, and the test is set to look for a tenth condition after the Welsh Government agreed funding for a new laboratory. The £1.21m biochemistry laboratory at University Hospital Wales in Cardiff will expand the All-Wales Newborn Bloodspot Screening Service, the government said in an announcement first published on 22 October. A further £529,000 has been agreed to add testing for Hereditary Tyrosinemia Type 1, a serious inherited metabolic condition.
Newborn bloodspot screening in Wales
- Babies screened a year
- about 28,000
- Conditions screened now
- 9
- New laboratory
- £1.21m
- Funding to add Tyrosinemia Type 1
- £529,000
Why a new lab was needed
The programme screens around 28,000 babies a year for nine rare but serious diseases, including cystic fibrosis and congenital hypothyroidism. The government says the service's current testing facilities are not large enough to introduce new tests. The UK National Screening Committee recommended screening for Tyrosinaemia Type 1 in 2022. A written statement from Deputy Minister for Public and Preventative Health Nerys Evans on 23 October puts the building money at up to £1.218m, with separate running costs funded. Neither announcement gives a date for when the new test will begin.
SMA and SCID
The committee is still gathering evidence on whether spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) should be added to newborn screening across the UK. The government says the new lab puts Wales in a position to take part in that work. In her statement, Ms Evans said she had met the charity SMA UK and affected families that week, and had asked officials to explore how Wales could join the evaluation of SMA screening that has started in Scotland and regions of England. No decision has been announced.
What parents will notice
The heel-prick test is usually done by a midwife on days four to six of a baby's life, as part of routine care after the birth. Babies who test positive can be treated early, which the government says can improve a baby's health and in some cases prevent severe disability or death. "This new lab will modernise and futureproof our newborn screening infrastructure in Wales," Ms Evans said. Dr Sikha de Souza, a public health consultant at Public Health Wales, said early detection "allows early treatment that can improve outcomes and prevent lifelong complications".