SYNLAB UK & Ireland
Clinical Scientist, Molecular Genetics
Viapath (A partnership between the NHS and SYNLAB UK & Ireland) Guy’s and St. Thomas’ NHS Foundation Trust, London
A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies
British Journal of Haematology – https://doi.org/10.1111/bjh.16529
What inspired your research and what did it cover?
My research was on the non-invasive prenatal diagnosis of sickle cell disease. It is aimed at providing pre-natal testing for this quite common inherited haematological condition. What inspired me was to try and find a quicker and easier way for patients to have results on whether their child might develop sickle-cell disease.
Which aspect(s) of your research work are you particularly excited about?
We managed to develop a non-invasive pre-natal test for sickle-cell disease and the exciting thing is that it works on a blood sample from the mother. So, we take a mother’s blood sample during pregnancy. Through the foetus’ DNA circulating in her bloodstream, we can sensitively and specifically detect whether the foetus has sickle-cell disease or not. The exciting finding is that it might actually be possible to implement this into clinical practice.
Looking at the potential of your findings, what difference can they make?
Initially, we started this because the current patient pathway for pregnant women who are carriers of sickle-cell disease – which might be discovered through screening – is a pre-natal test where a small sample of the placenta is taken. This invasive procedure comes with a small risk of miscarriage. So, the major advantage of this procedure is that there is no risk of miscarriage associated with it and it can be performed earlier in pregnancy. That offers a much more pleasant patient experience and gives women maximum reproductive choice when faced with such difficult situations.
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