Prenatal screening test: Independent performance study of the IONA test published

Premaitha Health plc, developer of the IONA® test, the first CE-marked non-invasive prenatal screening test (NIPT), has announced the results of a study on the first-trimester detection of trisomy 21, 18 and 13 using the IONA® test1. The study was undertaken by a team led by Professor Kypros Nicolaides with Dr Liona Poon as the lead author at the Harris Birthright Research Centre for Fetal Medicine, King’s College Hospital, London, and was published in the Journal of Ultrasound in Obstetrics and Gynaecology.

The blinded validation study, assessed the potential performance of the IONA® test in using cell-free DNA analysis of 242 maternal blood samples to screen for Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18) and Patau’s syndrome (Trisomy 13). Samples were obtained from pregnant women at 11 to 13 weeks gestation before choroinic villus sampling. The maternal plasma samples were then analysed in Premaitha’s laboratories using the IONA® test.

The test results were analysed using the IONA® Software, Premaitha’s bespoke bioinformatics package available for all clinical laboratory customers. The IONA® test measures the relative amount of chromosomes 21, 18 and 13 in the maternal plasma sample to calculate a likelihood ratio to predict the presence of a trisomy. This data is coupled with the background risk associated with maternal age to determine an adjusted probability of the fetus having a trisomy of chromosome 21, 18 or 13. Of the 242 samples; 35 were trisomy 21, 4 were trisomy 18, and 2 were trisomy 13. The IONA® test detected 100% of all trisomies with a false positive rate of 0%.

Prof Kypros Nicolaides commented on the study “I am very impressed by the accuracy of the IONA® test” and Dr Liona Poon, both at the Harris Birthright Research Centre for Fetal Medicine, Division of Women’s Health, King’s College London said: “I hope the new technology used in the IONA® test will allow easy implementation of cfDNA testing in the screening for major fetal aneuploidies.”

Dr William Denman, Chief Medical Officer at Premaitha said: “These results confirm what our customers have already reported; that the IONA® test is a highly accurate, robust and simple screen for Down’s syndrome and other serious genetic conditions. It is a great endorsement of the test that Professor Nicolaides and his team have chosen to verify it. We believe this should encourage broader and appropriate uptake of NIPT, benefiting pregnant women and their families through the increased accuracy, especially the reduction in false positive results that the IONA® test provides.”

NIPT is more sensitive and specific than the currently available combined test. NIPT provides pregnant women and their families a more accurate and reliable screening result, reducing the incidence of unnecessary and stressful invasive procedures like amniocentesis, and the associated risk of miscarriage.

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