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Map Diagnostics Developing Mass Spec Test for Down Syndrome

Map Diagnostics Developing Mass Spec Test for Down Syndrome

Map Diagnostics Developing Mass Spec Test for Down Syndrome

Map Diagnostics Developing Mass Spec Test for Down Syndrome

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A British company has developed a non-invasive test which can screen pregnant women for Down’s syndrome from 8 weeks, offering instant results with comparable accuracy and far lower cost than current methods. It is urine, not blood, that is analysed in the MAP Test and this means it can be delivered globally on a mass scale to women who don’t necessarily have access to hospital facilities. 

Professor Howard Cuckle, Adjunct Professor of Obstetrics and Gynaecology, Columbia University, New York is an expert in antenatal screening and was one of the pioneers of screening for Down’s syndrome:

“This could be a major turning point in antenatal screening which I am very excited about. The MAP Test is much cheaper than current screening in many countries and vastly cheaper than the other new technique, cell free DNA (cfDNA). If the reliability indicated in early studies is borne out in ongoing studies over the next few months then this is a completely disruptive technology. Its beauty lies in its simplicity.”

The great innovation in MAP Diagnostics' newly patented test lies in its 'on-the-fly', instant result screening of urine for patterns of protein biomarkers that occur only in a Down's pregnancy from around eight weeks' gestation. This contrasts with the current "combined test" where blood samples are taken at around 12 weeks and considered alongside ultrasound scans and other factors such as mother's age. The savings in terms of reduced appointments (for blood taking, scans and presenting results) along with the relatively affordable equipment required to run the screen stand to save the NHS and other healthcare providers many millions of pounds annually.

MAP Diagnostics’ test uses matrix assisted time of flight mass spectrometry or MALDI ToF MS to produce a barcode pattern of proteins present in a microscopic sample of urine. The mass spectrometers, costing from around 50 thousand pounds, could soon become a standard piece of kit in every hospital laboratory. The expertise at MAP Diagnostics lies in interpreting these vastly detailed barcode patterns and utilising mathematical algorithms to rapidly produce near perfect screening and diagnostic results.

The development will arguably have its greatest impact on the global stage where many women don't have access to sophisticated healthcare provision yet will be able to post urine to labs for rapid and reliable results.

Dr Stephen Butler, Chief Scientific Officer at MAP Diagnostics and co-author of this research said:

“Our tests are about making sophisticated technologies accessible and affordable to couples when then need them most. This will offer choice to women, and their partners, much earlier in pregnancy to enable difficult decisions to be made with confidence and without any additional pressures of time.”

Professor Ray Iles, COO at MAP Diagnostics and lead author of the study said:

“This MAP test for Down’s syndrome is the result of a lifetime’s work. Our latest research has a greater than 90% detection rate and on this basis, we’re continuing to attract further investment to bring the test to as many women around the world within the coming months. We understand the anxiety every parent faces not knowing whether their baby will be affected by this serious disability and this has driven us to persist with our research. We expect that the NHS and other healthcare providers will jump at the chance to improve the accuracy, timing and cost of screening for this genetic disorder.”