Midwives celebrate 600th patient milestone for life-changing genetic study

More than 600 expectant parents due to have their babies at Sheffield’s Jessop Wing have signed up to a world-leading study aiming to screen 100,000 babies for more than 200 rare genetic conditions at birth. 

Midwives from the specialist maternity unit, which is part of Sheffield Teaching Hospitals NHS Foundation Trust, hit the recruitment milestone after launching as a Generation study research site in December 2024.

The pioneering study is being led nationally by Genomics England in partnership with NHS England and is running at almost 50 NHS hospitals including Jessop Wing.

Using a technology known as whole genome sequencing, hundreds of rare but treatable genetic conditions that appear in the first years of life can be spotted earlier through a newborn blood sample, usually taken from the umbilical cord, at birth.

Earlier diagnoses of these conditions can be life-changing, enabling early access to treatment, monitoring and the right support from the NHS, rather than waiting for symptoms to appear later in childhood.

Improving access to early specialist support

Expectant parents agreeing to take part in the study will have their decision confirmed by a member of the Jessop Wing research team. Only after this confirmation is given will a cord blood sample be taken and sent for DNA extraction and sequencing.

If a condition is detected, families and carers will be provided with further NHS testing to confirm the diagnosis.

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

They will also receive ongoing support and treatment from the NHS. For Jessop Wing participants this specialist support will be provided by paediatric experts at specialist children’s hospitals.

Natalie Khoaz, Research Midwife at Jessop Wing and Principal Investigator for the Generation Study in Sheffield, said: “We are really proud of our midwives and the whole Jessop Wing Generation study team for reaching this recruitment milestone less than nine months after opening. The Generation study is highlighted in the NHS Ten Year Plan as a key way to improve future health outcomes and by diagnosing any of the 200+ genetic conditions at the earliest opportunity, patients will have access to early treatment and support, improving outcomes and quality of life. Early diagnosis can also better support parents and carers in dealing with the impact of potentially life-altering diagnosis in children and better plan for their care. This is a simple, transformative programme which we urge all parents-to-be to consider.”

Expectant parents can register their interest by visiting the Generation Study website and selecting Sheffield. The Jessop Wing Generation Study Team can also be contacted for more information on 0114 226 8333 or via sth.generationstudy@nhs.net.

Source: Sheffield Teaching Hospitals

Image: Research Midwife Natalie Khoaz (2nd from left) and the Jessop Wing Generation study team celebrate their 600th recruitment milestone. Submitted by Sheffield Teaching Hospitals

Staff Writer