The diagnostic measures for the prevention of hereditary diseases were first implemented in Estonia at the beginning of the 1990s, and the price of routine pregancy monitoring includes the cost of the double and the triple tests which allows all pregnant women to be screened for chromosome abnormalities, regardless of the level of risk. In addition to that, medical genetics counselling is carried out in Tallinn and Tartu and then, if needed, a thorough chromosome analysis after invasive fetal monitoring in centres for medical genetics. This project was iniated in 2003 with the aim to involve more pregnant women from the risk group in the chromosome analysis in order to avoid the birth of a child with congenital developmental anomalies. Since the beginning of the project, between 2003 and 2006, there have been 5769 amniocenteses, and the chromosome analyses based on them have revealed 184 chromosome abnormalities (including 80 fetuses with Down syndrome). As far as is known, in all the cases that have been discovered, the birth of a childwith chromosome abnormalities has been avoided.
According to international recommendations the most suitable and cost-effective for hereditary diseases are combined screenings. The effectiveness of the Estonian screenings is quite in accordance with the international recommendations, although the project only involves carrying out the amniocentesis and the genetic consultation, the ultrasounds and serum pregnancy tests are done routinely when monitoring the pregnancy. But based on current data it is not possible to evaluate how many children with hereditary diseases are prevented from being born due to this testing method.
Achieving current results has been possible due to the growing co-operation between different parties, increasing the availability of amniocentesis, setting common goals, and satisfactory project management. Still, the results of this evaluation offer ways and possibilities to continually raise the effectiveness of the screening. Possibilities for further improvement fall into three main categories: systemising and coordinating project management, changes in notifying the screening’s target group and changes in the general organisation, and developing the monitoring system for the results of the screening.