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Exploring faster and safer prenatal diagnosis options

Research to develop a safe means of diagnosing cystic fibrosis during early pregnancy has begun at Great Ormond Street Hospital, a joint project funded by Action Medical Research, GOSH Children’s Charity and the Cystic Fibrosis Trust.

Current methods for diagnosing cystic fibrosis in unborn babies require invasive testing that comes with a risk of miscarriage and cannot be performed in the first 11 weeks of pregnancy, leaving less time for the expectant parents to consult with experts and prepare for the impact of the diagnosis. 
 
Fragments of an unborn child’s DNA circulate in the mother’s blood stream and can be extracted from around the ninth week of pregnancy. Researchers will investigate using a maternal blood sample to diagnose cystic fibrosis, as well as spinal muscular atrophy, which affects around 2,500 people in the UK.
 
Dr Anoushka de Almeida, Head of Research at the Trust, said: “Research like this is absolutely vital for the development of diagnostic tools that can buy families with a history of cystic fibrosis time to come to terms with a diagnosis during pregnancy.
 
“The researchers have shown that parents who decline the risky invasive tests used currently would welcome this technique if it were available, so we’re delighted to be funding research to help realise this possibility.”

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