Developing safer tests for cystic fibrosis and spinal muscular atrophy during pregnancy | Children's Charity

Developing safer tests for cystic fibrosis and spinal muscular atrophy during pregnancy

This research was completed on 31 December 2018

Published on 22 February 2016

Professor Lyn Chitty’s team at Great Ormond Street Hospital and the UCL Institute of Child Health is developing safer ways 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), which affects 2,000 to 2,500.1-3 Existing tests can’t be done until at least 11 weeks into pregnancy and, because they’re invasive, they slightly increase women’s chances of losing their babies through miscarriage. The new tests, which just need a blood sample from the mother, should be suitable for use earlier in pregnancy and should eliminate the risk of miscarriage.

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.

How are children’s lives affected now?

Cystic fibrosis (CF) is a progressive disorder, mostly affecting the digestive tract and lungs, which become clogged with thick, sticky mucus, leading to tissue damage. Babies with cystic fibrosis have changes – or mutations – in a particular gene. They have two copies of the altered gene – one inherited from their mother and one from their father. Parents who both carry the altered gene have a one in four chance of having a baby with the condition.

SMA is an inherited muscle-wasting condition that can affect a person’s ability to crawl and walk, to move their arms, hands, head and neck, as well as their breathing and swallowing. 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.

Tests can reveal whether an unborn baby has cystic fibrosis or SMA. However, at the moment 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.

How could this research help?

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.


1. Cystic Fibrosis Trust. About cystic fibrosis. Website accessed 13 October 2015.

2. UK Cystic Fibrosis Registry. Cystic fibrosis: strength in numbers. Annual data report 2014. Website accessed 13 October 2015.

3. Spinal Muscular Atrophy Support UK. Key facts about spinal muscular atrophy. Website accessed 13 October 2015.

Project LeaderProfessor Lyn S Chitty BSc, PhD, MB BS, MRCOG
Project team
  • Dr Suzanne C Drury PhD BSc
  • Dr Vincent Plagnol PhD
LocationGenetics and Genomic Medicine, UCL Institute of Child Health, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London
Other locations
  • UCL Genetics Institute, University College London
Duration2 years
Grant awarded20 July 2015
Start date1 May 2016
End date31 December 2018
Grant amount£198,634.00
Grant codeGN2376

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