Tartu test spots tiny fetal genome changes in 99.97% of cases

Scientists in Tartu have shown for the first time that a prenatal test built on a distinctive DNA-enrichment method can detect extremely small changes in any region of the fetal genome. The result is reported in a new paper on NIPTIFY, a test developed in Estonia.

The study uses data from more than 10,500 pregnant women. It finds that the technology gives a successful answer in 99.97 percent of cases and brings the need for a repeat sample below one percent.

Kaarel Krjutškov, associate professor of molecular medicine at the University of Tartu and head of the Celvia medical laboratory, led the research. He said the technical advance lies in enriching DNA of fetal origin before it is analysed. According to Krjutškov, that step gives future parents the greatest possible confidence and reduces the need for further tests.