The first baby to have a cord blood sample taken as part of a genetics study lead by Genomics England was born at Jessop Wing.
Sophia Bird’s parents decided during pregnancy that she would take part in the study which aims to diagnose conditions before symptoms appear in later childhood so families can sooner access the correct support.
Families are able to take part in the study which is in partnership with NHS England, allowing a sample of their baby’s blood to be screened for over 200 genetic conditions, such as cystic fibrosis and brittle bone disease.
Sophia’s parents, Alice and Robert, said: “We would like to say it is a privilege to be the first parents of a child in Sheffield 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.”
Midwives have a detailed discussion with parents wanting to take part, an NHS doctor, nurse or midwife then confirming they are still happy after their baby is born so a blood sample can be taken for whole genome sequencing.
Dr Jackie Cook, Clinical Director Rare Disease North East and Yorkshire Genomic Medical Services and Sheffield Children’s Consultant in Clinical Genetics, 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.
“Sheffield Children’s is home to dedicated paediatric specialists who care for babies, children and young people locally and nationally with complex conditions, including genetic disorders. Sheffield Children’s welcomes this study as a huge opportunity to support children and families earlier, providing access to the support and treatment needed.”
Natalie Khoaz, Research Midwife at Jessop Wing said the facility cares for over 5,500 babies a year and parents that take part could potentially make a huge difference to future generations and babies born with complex needs.
Sophia Bird, who was born on 16 December, was the first baby in Sheffield to have a cord blood sample taken as part of the study
— Sheffield Hospitals (@SheffieldHosp) February 5, 2025
Sophia's parents, Alice and Robert, said it was a 'privilege' to be the first family to take part in such important and life-changing research. 2/3 pic.twitter.com/1Qam32XbdE
Expecting parents that wish to take part can find more information on the Generation Study website by selecting Sheffield on the dropdown menu, or can contact the Jessop Wing Generation Study Team by telephone on 0114 226 8333 or email at sth.generationstudy@nhs.net.