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Hope for non-invasive prenatal sickle test

Monday June 17th, 2019

British researchers have developed a non-invasive prenatal test for sickle cell disease, a European conference has heard.

The new technique involves cell-free foetal DNA, the conference of the European Society of Human Genetics in Gothenburg, Sweden, was told.

So far the technique has only been tested on 24 pregnant women known to be carriers of the disease.

It involves the use of molecular identifiers and the analysis of small fragments, from samples, using techniques that could enhance the foetal contribution.

The researchers say that further development and testing is needed before the technique is available for clinical practice.

Researcher Dr Julia van Campen, from Guy's and St Thomas', London, said: " We have developed a method of testing for SCD using cell-free foetal DNA - DNA from the foetus that circulates in the maternal bloodstream.

"Although cell-free foetal DNA testing is already available for some disorders, technical difficulties have hampered the development of such a test for SCD, despite it being one of the most commonly requested prenatal tests in the UK."

Dr van Campen said the test had given better results than expected but added: "We also need to work to ensure that it can provide results rapidly enough to give women answers at the right time in their pregnancy, and that it can be performed at a cost that healthcare providers can afford."

Conference chair Professor Joris Veltman, of Newcastle University, UK, said: "The development of non-invasive genetic tests that can be safely used during pregnancy is important to identify foetuses with severe disorders.

"These scientists have developed a novel state-of-the art genomics approach to do this for sickle cell disease in couples at risk. Their first results presented at the ESHG conference indicate that their test is very promising."

Abstract no: C08.5 Non-invasive prenatal diagnosis of sickle cell disease by next generation sequencing of cell-free DNA. European Society of Human Genetics

Tags: Childbirth and Pregnancy | Europe | Genetics | UK News

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