Non-Invasive Prenatal Test (NIPT) for the first time available by a team of Greek Scientists
Significant developments bring change in the field of genetic testing in our country: ClarigoNIPT, an innovative fetal DNA test, brings a revolution in the field of prenatal testing in Greece as it is specially designed for fully local implementation.
This is a Non-invasive Prenatal test (NIPT), which can be performed at as early as 8 weeks into pregnancy. Bringing a change in the field of genetic testing in Greece, ClarigoNIPT can be implemented at Science Labs Advanced Medical Diagnostics Centre (www.nipt.gr), complementing the traditional prenatal screening (ultrasound, PAPP-A, etc.).
The significance of this test is based on cutting-edge technology of modern Genomics (Illumina NextSeq500, Qiagen QiaSymphony, Multiplicom Clarigo). Its aim is to offer accurate outcome that will help expecting couples and their doctor make crucial decisions during pregnancy.
This new test is available to all pregnant women, regardless of their age. A standard maternal blood draw allows us to obtain cell-free fetal DNA that was recently identified as circulating in low concentrations in the mother’s bloodstream. Results are available to the expectant mother and her attending physician within five days following the test. The purpose of the test is to exclude the rare yet acknowledged risk of fetal chromosomal disorders, such as trisomy 21 (Down Syndrome), 18 (Edwards Syndrome) and 13 (Patau Syndrome).
Based on updated official figures from 2015, 5 million women worldwide are resorting to the NIPT test each year, while it is estimated that demand will rise to 100 million tests per year by 2020.
“For the time being, molecular non-invasive prenatal testing is limited to a robust predictor that screens for possible chromosomal anomalies such as trisomy 21, 18 and 13.
However, Clarigo will soon replace trophoblast sampling or amniocentesis”, points out Mr. Pantelis Konstantoulakis, Molecular Biologist – Geneticist, Supervisor at Centre’s Department of Molecular Genetics. “Currently, he adds, the test is not replacing the need for standard screening, but it provides significant reassurance as to the normal development of the fetus.”
Until recently, the only methods available for determining fetal chromosomal anomaly were invasive procedures such trophoblast tissue sampling (performed between the 11th and 15th week of pregnancy) or amniocentesis (from 16 weeks onwards).
These tests involve trophoblast sampling from the placenta or fluid aspiration with needle perforation of the amniotic sac, and, as in any surgical procedure, risks remain, despite the great progress made in recent years in the field of invasive diagnostics.
“It is important that a pregnant woman and her doctor have reliable outcome as to the condition of the fetus as early as possible and without the mother undergoing any invasive medical procedures, which are unnecessary most of the times”.
“The non-invasive prenatal test (NIRT) available at Science Labs offers timely, safe and reliable outcome as to the normal chromosomal status of the fetus” points out Mr. Epaminondas Vrettos, Managing Director at Science Labs Advanced Medical Diagnostics Centre. “What is also important is that the new test is expected to help reduce the overall cost of the procedure as samples will be analysed locally instead of being sent abroad,” notes Mr. Vrettos.
“Moreover, the test will be available to all pregnant women”. It should be noted that, today, 70% of children born with Down Syndrome come from mothers whose family history and age were not considered as high risk factors for chromosomal abnormalities”.
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