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Safer tests for cystic fibrosis in pregnancy
We're funding Professor Lyn Chitty’s team at Great Ormond Street Hospital and the UCL Institute of Child Health whose research aims to develop a safer way to diagnose two genetic conditions in babies during pregnancy: cystic fibrosis, which affects over 10,000 people in the UK and spinal muscular atrophy (SMA) - a muscle wasting condition - which affects 2,000 to 2,500.
As with cystic fibrosis, children with SMA have two copies of an altered gene and parents who are carriers of this gene have a one in four chance of having another baby with SMA.
Existing tests can reveal whether an unborn baby has cystic fibrosis or SMA. However they can’t be done until at least 11 weeks into pregnancy and they’re invasive – they involve inserting a needle through the tummy into the womb – so there’s a small risk of miscarriage.
New diagnostic tests
Professor Chitty’s team is developing new diagnostic tests, which analyse genetic material – DNA – in a sample of a mother’s blood to find out whether her unborn baby has the genetic changes seen in cystic fibrosis or SMA. Fragments of a baby’s DNA circulate in the mother’s bloodstream during pregnancy.
As the new tests only require a sample of blood from the mother, they avoid the need for an invasive test and so are safer. They can also be done earlier, from around 9 weeks of pregnancy. By enabling an earlier diagnosis, the tests should also give parents more time to seek out expert advice and plan for the future.
This is a joint project which is being funded by Action Medical Research, Great Ormond Street Hospital Children's Charity and the Cystic Fibrosis Trust.
More cystic fibrosis research
Children with cystic fibrosis are susceptible to chest infections which can be very difficult to treat. These can cause long-term ill health and reduce life expectancy.
We're determined to help save and change these children's lives. We're funding two potential life-changing research projects that aim to improve treatments for Pseudomonas infections and prevent them from taking hold.