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In-house Antenatal reflex DNA screening for Down’s syndrome, trisomy 18 and trisomy 13: a world first

In-house Antenatal reflex DNA screening for Down’s syndrome, trisomy 18 and trisomy 13: a world first

The Wolfson Institute of Preventive Medicine with the assistance of Premaitha Health plc (AIM: NIPT), is launching an in-house antenatal reflex DNA screening service on 19 October 2015. The DNA screening test estimates the risk of having a pregnancy with Down’s syndrome, trisomy 18 (Edwards syndrome) or trisomy 13 (Patau syndrome) by analysing cell free DNA from a sample of maternal blood.

The reflex DNA screening service at the Wolfson Institute started in April 2015. Previously blood samples were sent to the United States for DNA analysis. Now the DNA analyses are to be performed in a new laboratory at the Wolfson Institute set up using Premaitha’s test methodology.

The reflex DNA screening approach involves taking two blood samples between 11 and 13 weeks of pregnancy. One sample is tested using the current Combined test and the other is held for possible DNA analysis which is done automatically if the Combined test indicates a risk of having an affected pregnancy that is equal to or greater than 1 in 800. About 10% of women screened will have a reflex DNA test in this way. Importantly the reflex approach avoids the need to recall women for a second blood test and so avoids causing unnecessary anxiety. The screening method detects about 9 in 10 affected pregnancies with a false-positive rate of less than 1 in 1,000. A positive screening result leads to an offer of a diagnostic test (a chorionic villus sampling or an amniocentesis).

Use of the Premaitha DNA analysis platform set up within the Wolfson Institute provides a DNA screening service “in-house” avoiding the need to send blood samples to overseas laboratories. The in-house facility at the Wolfson is, to our knowledge, the first such service performing reflex DNA screening.

Sir Nicholas Wald of the Wolfson Institute said:

“The reflex DNA approach is a method of screening that is more effective than currently available tests and harnesses modern DNA sequencing methods for the service of NHS patients. It reduces the false-positive rate to a substantially lower level than can be achieved using standard methods of screening, so greatly reducing the number of diagnostic procedures.”

Dr Stephen Little, CEO of Premaitha, said:

“We are very pleased to help the Wolfson Institute, a world renowned antenatal screening centre, introduce the latest in DNA analysis in the service of medical care. Our philosophy is to enable existing screening laboratories to adapt their methods and incorporate the opportunities of the new technology.”

For more information please contact:

The Wolfson Institute of Preventive Medicine
Professor Sir Nicholas Wald
email: n.j.wald@qmul.ac.uk
tel: +44 (0)20 7882 6269

Professor Robert Old
email: r.old@qmul.ac.uk
tel: +44 (0)20 7882 6288

Premaitha Health plc
Dr Stephen Little, CEO
email: investors@premaitha.com
tel: +44 (0) 161 667 6865

Jo Cross, Head of Marketing
email: joanne.cross@premaitha.com
tel: +44 (0)7736 843 052

About the screening method
Wald NJ, Bestwick JP.Performance of antenatal reflex DNA screening for Down’s syndrome. J Med Screen 2015;0(0):1-7

About the disorders screened for
Down’s syndrome (Trisomy 21) In an unscreened population about 1 in every 500 babies is born with Down’s syndrome. About 9 out of 10 babies will survive their first year and nearly half of these will reach 60 years of age. Down’s syndrome is the most common cause of severe learning disability and is often associated with structural defects such as heart defects and difficulties with sight and hearing.

Edwards syndrome (Trisomy 18) In an unscreened population about 1 in every 3,000 babies is born with Edwards syndrome. At 12 weeks of pregnancy Edwards syndrome has a prevalence of about 1 in 1,500 but most affected pregnancies end in a miscarriage. Babies born with Edwards syndrome typically live for about two weeks with only 1 in 12 surviving for one year or more. Babies with Edwards syndrome typically have severe structural defects (including defects of the heart, kidney, brain, skeleton and face) as well as severe learning disabilities.

Patau syndrome (Trisomy 13) In an unscreened population about 1 in every 4,500 babies is born with Patau syndrome. At 12 weeks of pregnancy Patau syndrome has a prevalence of about 1 in 3,500. Babies born with Patau syndrome typically live for around two weeks with only 1 in 12 surviving for one year or more. Babies with Patau syndrome typically have severe structural defects (including defects of the heart, kidney, brain, skeleton and face) as well as severe learning disabilities.

About the Wolfson Institute of Preventive Medicine
The Wolfson Institute of Preventive Medicine is part of Barts and The London School of Medicine and Dentistry within Queen Mary University of London. The Institute conducts research, education and service activities within the field of preventive medicine. It has published research on antenatal screening for neural tube defects and Down’s syndrome screening, folic acid and the prevention of spina bifida and other neural tube defects, the prevention of cardiovascular disease through reducing salt intake and the use of the “polypill”. It is the leading research group in cancer prevention and has hosted the largest register of Down’s syndrome in the world. Its scientists have received international awards for their work in preventive medicine.

About Premaitha Health plc
Premaitha is an innovative UK molecular diagnostics company employing the latest advances in DNA analysis technology to develop tests for antenatal screening and other applications. Premaitha’s DNA test is the only CE-marked assay system for antenatal screening that enables clinical laboratories to offer testing in their own laboratories. Premaitha is listed on the London Stock Exchange (AIM: NIPT). Its R&D, manufacturing and commercial operation is located at Manchester Science Park, UK. For further information please visit www.premaitha.com

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