Babies screened for 200 conditions in 'landmark' study

Newborn babies at an NHS trust in Hertfordshire will be screened for 200 rare, genetic conditions as part of a pioneering national study to identify disorders earlier.

The Generation Study offers genomic sequencing using a small blood sample, usually taken from the umbilical cord shortly after birth.

Expectant parents at West Hertfordshire Teaching Hospitals NHS Trust will be informed about the study during pregnancy and asked if they wish to take part.

The study aims to screen 100,000 newborns across England.

The trust runs Watford General Hospital, St Albans City Hospital and Hemel Hempstead Hospital.

After birth, an NHS doctor, midwife or neonatal nurse will confirm with parents that they are happy for their baby to be tested.

A blood sample will be taken and sent to a laboratory for whole genome sequencing.

Dr Avinash Jinadatha, the principal investigator leading the Generation Study, said it was one of the largest studies the trust had taken part in.

"It's incredibly exciting to be involved in such a landmark project," he said.

"It will play a vital role in improving outcomes for generations of children.

"Early detection of treatable genetic conditions can make a real difference, helping children stay healthier and access the right care sooner."

Rebekka Frick, research midwife, said that the study - led by Genomics England - would give parents earlier answers about their baby's health.

"Our team is here to guide families through the process, answer questions, and support them every step of the way as they decide whether to take part," she said.

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