Babies in Wales to be screened for more conditions as new lab is funded

Nation.Cymru staff

Newborn screening in Wales will expand after the Welsh Government committed £1.21m to a new laboratory at University Hospital Wales (UHW) in Cardiff.

A further £529,000 will add hereditary tyrosinemia type 1 to the nine conditions the programme already tests for. The UK National Screening Committee recommends screening for the condition.

The All-Wales Newborn Bloodspot Screening Service tests every baby born in Wales, around 28,000 a year, for rare but serious conditions including cystic fibrosis and congenital hypothyroidism. Its current facilities are too small to accommodate new tests. The new biochemistry laboratory will provide the space and infrastructure to do so.

The committee is also gathering evidence on whether spinal muscular atrophy (SMA) and severe combined immune deficiency (SCID) should be screened for across the UK. The investment puts Wales in a position to explore taking part in that evaluation, and in any national screening that follows.

Babies who test positive can be treated early, which improves their health and in some cases prevents severe disability or death.

The test uses a small blood sample taken from the baby’s heel, ideally between days four and six of life. A midwife usually carries it out as part of routine post-natal care.

Nerys Evans, Deputy Minister for Public and Preventative Health, said: “This new lab will modernise and futureproof our newborn screening infrastructure in Wales. We know that screening saves lives and this development means we’ll be well placed to respond to future screening developments and recommendations.”

Dr Sikha de Souza, a public health consultant at Public Health Wales, said detecting serious conditions shortly after birth allows early treatment that can improve outcomes and prevent lifelong complications. She called the facility “a welcome addition” to the programme.

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