Today, couples who are expecting a child and want to know about its genetic integrity – to the extent possible thanks to the progress of Molecular Genetics – may proceed with a fetal DNA test.
All it takes is a standard maternal blood draw performed as early as 8 weeks into pregnancy. There is no involved risk for the embryo or the mother and the sample does not need to travel abroad which means that the outcome of the test and the technique sensitivity are not jeopardised. Through this simple procedure, future parents may assess the possibilities of their baby being born with a serious chromosomal abnormality.
Non Invasive Prenatal Testing (NIPT), based on a fully certified technique (ClarigoTM), received a golden award during yesterday’s Healthcare Business Awards ceremony. All award-winners were announced and all best practices from the entire Healthcare spectrum were presented during the event.
Athens University Professor Pantelis Konstantoulakis, a Molecular Biologist & Geneticist, accepted the award on behalf of Science Labs. “In these financially challenging times for our country, healthcare services offered to fellow citizens should not be underperforming and we should not go back to those days when we were just watching the scientific progress made in other “developed” countries.
Fighting back, despite all difficulties, Science Labs decided to make an investment, aiming at presenting its customers in Greece with a unique innovation in the field of medical diagnostics, currently available only in the USA, China and Switzerland” said Mr. Konstantoulakis.
Supplementary to standard prenatal screening, such as ultrasounds and the Ρap-A test, we now offer the ΝΙΡΤ, which uses its very high sensitivity and specificity of almost 100% to rule out the possibility for anomalies such as the Down syndrome (trisomy 21), the Pateu syndrome (trisomy 13) and the Edwards syndrome (trisomy 18). These are the most common chromosome abnormalities that may be diagnosed in a growing fetus.
Non-Invasive Prenatal Testing and the option of performing the test under top quality specifications in our country, called for investment both in funds as well as specialised scientific skills, which the Science Labs team has managed to acquire, thanks to its strong know-how. The team also received official certification for its skills by the foreign manufacturers.
Samples are analysed in laboratories with appropriate state-of-the-art equipment (Illumina NextSeq-500, Qiagen QiaSymphony, Thermο Veriti) and CE-IVD analysis technology (Clarigo Reporter), while the outcome is cross-checked by two specialised molecular biologists and one clinical geneticist
The blood sample received from the mother is first tested for suitability (DNA concentration and fetal fraction) and is then analysed. In the rare event of a possible positive outcome, Science Labs covers the cost of the necessary invasive testing to confirm or reject the NIPT result (amniocentesis, chorionic villus sampling and karyotyping.
“In Science Labs we pledge that the services we offer do and will continue to meet the expectations of Greek future parents, despite the troubling times our country is going through. And that we shall continue to raise the bar high when it comes to quality healthcare services, regardless of the cost involved and the obstacles that we face in the process. For we believe that our country, that is the birthplace of Medicine, cannot and should not be left behind” added Dr. Konstantoulakis.