Roundup: Cypriot geneticists market non-invasive Down Syndrome test

Cypriot geneticists on Monday announced the marketing worldwide of what they said is the most accurate non-invasive prenatal diagnostic test for the Down Syndrome, a genetic disorder that leads to physical and mental impairment.

The test, marketed under the brand name of Veracity, will spare the inherent dangers of invasive tests to the life of the fetus and the health of the mother, a statement handed out at a press conference in Nicosia said.

Invasive testing for the Down Syndrome is done by taking a blood sample from the fetus during the early stages of pregnancy, a procedure that can lead to injury to the fetus or even miscarriage in 1-2 percent of the cases.

The Veracity test requires only taking a blood sample from the hand of a gestating woman during a routine visit to her doctor after the 10th week of gestation for diagnostic testing in the laboratory for any abnormal indications, the handout added.

The Veracity Test was developed by a team of geneticists from the Cyprus Institute of Neurology and Genetics (CING) under Professor Philippos Patsalis, currently the Health Minister of Cyprus.

Research on the test started in late 2011 by CING. The test is being merchandised by Non-Invasive Prenatal Diagnostic Genetics Ltd, a subsidiary of CING after the conclusion of several blind validation studies.

The test can detect the presence of all or part of a third copy of chromosomes 21 (Down Syndrome), 18 (Edward Syndrome), 13 (Patau Syndrome), and of monosomy X (Turner Syndrome), as well as the fetus sex.

The presence of these extra copies in the fetus's genome can lead to a delay in physical growth and mild to moderate intellectual disability of people born with the syndromes.

The Veracity developers said that a simple blood analysis, the results of which can be known within 6 to 7 days can show accurately the presence of these abnormalities.

The Veracity developers said that a blind validation study using maternal peripheral blood from 175 pregnant women between 11 to 14 weeks gestation showed 100 percent accuracy.

Out of the 175 samples the study found all 50 trisomy 21 (Down Syndrome) cases and 124 normal cases were correctly classified with only one normal case falsely classified as positive.

"The test has a sensitivity of 100 percent a specificity of 99.2 percent," said Costas Anastasiades, operations director General of Non-Invasive Prenatal Diagnostic Genetics.

He said the test is based on improved methods of DNA analysis in association with pioneering bio-information models.

A detailed scientific announcement on the non-invasive test will be made by world-renowned Cypriot maternal fetal medicine specialist Kypros Nocolaides, a pioneer in fetal surgery, at an international fetal medicine meeting in Crete next month. Endit