“Newborn screening could save 70 babies from a debilitating disability each year” – Miriam Stoppard

New groundbreaking research from Oxford University shows how national newborn screening could help prevent children from developing heart-breaking spinal muscular atrophy

Delays in SMA diagnosis mean the baby may survive but be severely disabled
Delays in SMA diagnosis mean the baby may survive but be severely disabled

Every five days, a potential tragedy occurs in one of the UK’s maternity wards when a baby is born with Spinal Muscular Atrophy (SMA).

It is tragedy that awaits us because although treatments are available, they must be administered immediately after birth.

If they are delayed because SMA is not diagnosed, the baby may survive but be severely disabled.

Oxford University aims to correct this through groundbreaking research.

Staff plan to identify these children at birth so they can receive treatment that will prevent the progression of this heartbreaking disease.

It is hoped that it will pave the way for a national newborn screening program that will save about 70 babies a year from a crippling disability.

SMA is a rare but treatable genetic condition that affects approximately one in 10,000 births.

Oxford University researchers want to identify children with SMA at birth


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It is caused when part of a gene is missing (deletions) or defective (mutations).

This gene is called Survival Moto Neuron 1 (SMN1) and is important for maintaining motor neurons (nerve cells).

SMA gradually destroys the nerve cells in the brain and spinal cord that control movement.

This leads to irreversible muscle weakness, which can begin within the first three months of a child’s life.

In children with the most common and severe type of SMA, 95% of all motor neurons can be lost before the age of six months.

Most children with this type of SMA will not live past the age of two if left untreated without permanent ventilator support.

Those that survive will be unable to sit or walk on their own.

The Oxford Newborn Screening Study means SMA is detected within days of birth, before symptoms develop, allowing any affected newborn to be treated at the earliest possible time.

This is done through the routine newborn blood spot screening in the UK.

Four Thames Valley Hospital Trusts will take part: Oxford University Hospitals, Royal Berkshire, Milton Keynes University Hospital and Buckinghamshire Healthcare.

Most children with severe SMA, if left untreated, will not live past the age of two without permanent ventilator support


(Getty Images/Mascot)

The study, designed by Professor Laurent Servais and colleagues at the University of Oxford, is being carried out by the STRONG research group in the Department of Paediatrics.

“Four years ago I started examining newborns for spinal muscular atrophy in Belgium,” says Prof. Servais.

“This early intervention was extremely successful in identifying 15 patients and through the latest treatments we have positively transformed their life outcomes.

“I am proud to say that they are doing well.”

Professor Manu Vatish added: “The University of Oxford and the John Radcliffe Hospital are delighted to be able to support Prof Servais in identifying these children so that they can receive treatment designed to halt the progression of this terrible disease.”

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https://www.mirror.co.uk/lifestyle/health/newborn-screening-could-save-70-26905692 "Newborn screening could save 70 babies from a debilitating disability each year" - Miriam Stoppard

Fry Electronics Team

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