Genomics aids non-invasive prenatal diagnosisGenomics aids non-invasive prenatal diagnosis

Prenatal genetic diagnosis currently exists in the form of invasive procedures, which carry small risks of miscarriages. But technology in genomics is bringing significant change to the forefront. “Genomics has an influence on prenatal diagnosis in several ways. “For instance, we can now analyse cell free DNA in the mother’s blood, and because this contains foetal as well as maternal DNA we can test for genetic conditions in the foetus by analysing maternal blood samples. We can test for conditions such as cystic fibrosis in families who we know are at increased risk,” said Prof. Dame Lyn Chitty, who holds the unique title of Professor of Genetics and Fetal Medicine at the University College London Great Ormond Street Institute of Child Health (UCL GOS ICH) in the UK. 

This approach to prenatal diagnosis of monogenic conditions gives fast and earlier results compared to standard invasive techniques, reduces risks to the mother and unborn child by eliminating unnecessary invasive procedures, and ensures optimum labour management as professionals can advise where the baby needs to be delivered to receive a particular type of treatment. An expert in prenatal diagnosis, Prof. Dame Chitty not only leads research in rapid and non-invasive techniques, but she also created the foetal size charts currently used in many units in the UK. Prof. Dame Chitty also worked on the UK Government-funded 100,000 Genomes Project led by Genomics England which involved sequencing whole genomes from the patients of National Health Service (NHS).

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Prof Chitty was recently bestowed with the title of Dame Commander of the Order of the British Empire for services to medicine. She was also recognised by the Academy of Medical Sciences for her outstanding contributions to the advancement of biomedical and health science. Her accolades are a testament to her ongoing research to offer families safer testing options to learn about the health of their unborn child.

To date, Prof. Dame Chitty and her team at Great Ormond Street Hospital have performed non-invasive prenatal diagnosis tests for around 200 genetic conditions for nearly 400 families with accurate results. Speaking about the procedure, she explained that it is now possible to track down the abnormal gene in recessive conditions after gathering genetic material from parents and siblings.

“In England, we can also perform the more complicated relative haplotype dosage analysis and offer a definite diagnosis for families at risk of cystic fibrosis, Duchenne and Becker muscular dystrophy, congenital adrenal hyperplasia, and spinal muscular atrophy. We are also validating beta-thalassemia and can start offering this testing to consanguineous families soon,” she added.

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The future of foetal medicine is promising with the rise of in-utero gene therapies for conditions such as spinal bifida and congenital diaphragmatic hernia, according to Prof. Dame Chitty. Addressing the potential of gene therapy in other areas, she added: “We have done a study with the Karolinska Institutet looking at mesenchymal stem cells prenatally to help alleviate osteogenesis imperfecta in babies. There is huge potential here, and in the future at Great Ormond Street Hospital, we will be exploring the possibility of taking some of the therapies from the neonate stage to the foetus.”

If successful, experts would be able to treat certain conditions that start in the uterus and may be able to prevent or reduce damage. “We are also extending the range of non-invasive prenatal diagnosis (NIPD) that we offer for monogenic conditions, working on validating new tests, e.g., for sickle cell where we are looking at new approaches such as digital PCR. We are also looking at long-read sequencing to see if we can improve the diagnostic rates from invasive tests. There are a lot of exciting things going on,” she concluded.

This article appears in Omnia Health magazine. Read the full issue online today.

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