NHS Expands Newborn Screening – What Families Need to Know

From October 2025, the NHS is adding a new test to the routine newborn blood-spot (heel-prick) screening: Hereditary Tyrosinaemia Type 1 (HT1) — a rare but serious condition that can harm a baby’s liver, kidneys, and overall health if not caught early.

Why This Matters

HT1 is a genetic condition where the body can’t properly break down an amino acid called tyrosine. Without treatment, harmful substances build up and can lead to serious health problems. The tricky part? Symptoms often don’t show until damage has already started.

Screening babies at around 5 days old means doctors can spot HT1 before symptoms appear, allowing treatment to start right away. This usually involves a special medicine called nitisinone and a carefully managed diet — which together can prevent serious harm.

What This Means for Families

• Peace of mind: While HT1 is rare (around 7 cases a year in the UK), knowing every baby is screened gives parents extra reassurance.

• Early support: Babies diagnosed with HT1 get care from specialist teams, so families aren’t left to navigate it alone.

• Better outcomes: Early detection makes a huge difference in long-term health.

  
  

This is a big step forward in keeping babies healthy, and we will be keeping an eye on how it works in practice, making sure families get the support they need.