Premaitha’s Down’s Syndrome test ‘100% accurate’

AN independent study into Premaitha Health’s newly-launched IONA non-invasive prenatal test (NIPT) has revealed 100% accuracy.

The Manchester-based company’s NIPT test detects the risk of a fetus being by Down’s Syndrome and other serious genetic conditions such at Patau’s Syndrome and and Edwards Syndrome and is carried out by analysing fetal DNA from a sample of maternal blood.

The result of the study 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, has been published in the Journal of Ultrasound in Obstetrics and Gynaecology.
The 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. The maternal plasma samples were then analysed in Premaitha’s laboratories using the IONA test.

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.

That 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 Nicolaides said: “I am very impressed by the accuracy of the IONA test.”

Dr Poon 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.”

Premaitha chief medical officer Dr William Denman, 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 Prof 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.”

Premaitha recently signed a distribution agreement with Greece company Antisel SA to provide the IONA test to laboratories in the region.

The distribution agreement gives clinical laboratories in Greece access to the IONA test, allowing them to offer local NIPT screening for the first time and to take advantage of the test’s time to result of just three days.

Premaitha has also struck its first non-European partnership with Chilean company Servicios Genéticos OriGen to provide the IONA test for pregnant women in the South American country.