Sheffield hospital joins study screening babies

Babies born in South Yorkshire are being tested for genetic conditions as part of an national study aimed at spotting rare genetic disorders.

Whole genome sequencing is performed using blood samples during the study, which are taken from the baby's umbilical cord shortly after birth at Sheffield's Jessop Wing.

Checks for more than 200 irregular, treatable conditions such as cystic fibrosis and brittle bone disease are being made during the research led by Genomics England in partnership with NHS England.

Researchers said earlier diagnoses would mean early access to treatment, rather than waiting for symptoms to appear later in childhood.

Parents-to-be are told about the study during pregnancy and are offered the opportunity to take part.

Results are then reviewed by NHS genomic scientists, with the aim of sharing with parents within 28 days if a condition is suspected.

Alice and Robert Bird, whose daughter Sophia was the first baby to be screened in Sheffield, said: "It is a privilege to take part in such important and life-changing research.

"Although we can only grasp the surface of what the information will deliver, we hope that it will help with identification of conditions and possibly save lives."

The overall study aims to analyse the entire genetic code of up to 100,000 newborn babies in England, with the Jessop Wing maternity unit caring for more than 5,500 babies a year.

Dr Jackie Cook, a consultant clinical geneticist, said: "Early identification of rare genetic disorders can help slow the progression of disease and improve or even extend lives.

"Knowing a child has a rare but treatable genetic condition at an earlier stage also helps prepare families and carers and can make the experience less traumatic."

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