Estonian researchers have developed an innovative method of medical genetics that will enable non-invasive prenatal testing (NIPT) to be carried out soon in Estonia. NIPT is like an insurance policy, providing reliable genetic testing about fetal chromosomal health already at an early phase of pregnancy. An advanced genetic testing laboratory location on site strengthens the diagnostics sector in Estonia.
The age of pregnant women continues to increase in Estonia and elsewhere in Europe, which is associated with a higher risk for fetal chromosomal diseases. With the help of NIPT, the genetic mutations causing these diseases can be detected with 100% precision at an early stage of pregnancy by analysing fetal cell-free DNA from a pregnant woman’s blood sample. The NIPT has been available for pregnant women in Estonia even now, but so far samples have been sent and analyzed abroad. Therefore, the cost of testing is about €400–800 per test and is paid out of the pocket by families.
The Competence Centre on Health Technologies (CCHT), along with University of Tartu (UT), has created a new NIPT algorithm, the core of the NIPT testing procedure, referred to as NIPTmer. By applying NIPT, a blood sample obtained from pregnant woman is used to find out if a fetus is carrying an additional copy of chromosome 13, 18, or 21. For Hexample, an additional copy of chromosome 21 causes Down syndrome, which is one of the most prevalent causes of developmental disability. In addition, NIPT provides information about the sex of the fetus.