Non-invasive prenatal tests (NIPTs) are increasingly an integral part of screening during pregnancies across the world. Research from Amsterdam UMC shows that a pregnant woman's genetic background influences the effectiveness of the test. Data from over 140,000 administered tests in the Netherlands shows that a specific genetic variant, carried by about 7% of women in The Netherlands, increases the odds of inconclusive results and impairs the sensitivity of NIPT.
These results are published today in Cell Reports. "NIPT works by taking advantage of the fact that residual material from cells in the placenta, and thus reflecting the fetus, can be found in the mother's blood. We then test the DNA of this material, known as cell-free DNA, to assess whether the fetus is at risk of a chromosomal condition," says Erik Sistermans, professor of Human Genetics at Amsterdam UMC.
In addition to the DNA sequence, cell-free DNA also contains a second layer of information known as "fragmentomics." This information is encapsulated in multiple factors, such as the concentration, size, distribution, and patterns at the extremes of the DNA fragments. "What is striking is that these 'fragmentation' properties vary slightly between different people.
In the past, this variation was always explained by the fact that the composition of cells from which the cell-free DNA originates also varies," says Jasper Linthorst, researcher at Amsterdam UMC. "In this study, we show that many genes are involved an.
