Independent, multi-centre clinical study of the IONA test in high risk pregnancies shows 100% detection of trisomies and 0% false positives

Premaitha Health PLC, developer of the IONA® test, the first CE-marked non-invasive prenatal in vitro diagnostic kit (NIPT), announces the results of a study on first-trimester detection of trisomy 21, 18 and 13 in high risk pregnancies using the IONA® test[1] which are published in the Journal of Ultrasound in Obstetrics and Gynecology.

The blinded, UK multi-centre study evaluated the clinical accuracy of the IONA® test for screening high risk pregnant women. The study analysed 437 maternal blood samples for Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18) and Patau’s syndrome (trisomy 13). The results of the study showed a detection rate of 100% for trisomies 21 (43 cases), trisomy 18 (10 cases) and trisomy 13 (5 cases) with a false positive rate of 0% for the tested conditions.

Dr Brenda Kelly, Lead Investigator and Consultant Obstetrician and Subspecialist in Fetal Medicine at Oxford University Hospitals NHS Foundation Trust comments: “Cell-free fetal DNA testing is the future of prenatal screening for chromosomal disorders such as Down’s syndrome. Our study demonstrates the IONA® test can accurately predict the presence of the trisomies 21, 18, and 13. Being user-friendly, cost effective and CE-marked will overcome some of the limitations of existing commercial technologies to facilitate implementation in local laboratories. The relatively short turnaround time has the potential to reduce the stress of prospective parents awaiting results. We believe the IONA® test will improve patient experience and safety of prenatal aneuploidy screening.”

Dr Aris Papageorghiou, Lead Author and Consultant Obstetrician at St George’s NHS Hospital Foundation Trust and Principal Investigator, comments: “Currently, combined screening for chromosomal abnormalities (such as Down’s syndrome) is associated with high “false positive rates” meaning that many women have unnecessary invasive testing, with all the risk and anxiety that entails. One huge advantage of screening using cell free DNA technology is the reduced need for such invasive testing. In order to do this, the test must be accurate and fast, and this is what we demonstrate in this publication. Working with Premaitha, we are now able to offer this UK based test to women at high risk within the NHS at St George’s Hospital in London.”

Dr William Denman, Chief Medical Officer at Premaitha, said: “We at Premaitha are delighted with the results of the study and are grateful to be working with our collaborators as we strive to improve prenatal care for all expectant parents and those caring for them.”

NIPT is more sensitive and specific than the currently available combined test. It provides pregnant women and their families with 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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