What is it about?

During pregnancy short DNA fragments circulate through the blood stream of the mother. Part of these fragments originate from the child and can be used to predict if the child has a trisomy, for instance Downs syndrome. However, in some cases the percentage of these DNA fragments that are from the child is very low. We have developed new algorithms to predict trisomies with a higher sensitiviy, meaning that a smaller percentage of fetal DNA is needed for the trisomy prediction.

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Why is it important?

Our novel algorithms add new methods to the Non-Invasive Prenatal Testing (NIPT) analysis toolbox and increase sensitivity of trisomy detection.

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This page is a summary of: Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing, Scientific Reports, May 2017, Nature,
DOI: 10.1038/s41598-017-02031-5.
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