Non-invasive prenatal testing set up in-house at Clinical Genetics


Clinical Genomics Uppsala has developed a visualization tool to support interpretation of chromosomal abnormalities using non-invasive prenatal testing (NIPT).

NIPT is a method to determine the risk that a fetus will be born with certain chromosomal abnormalities. The method is based on sequencing of DNA circulating in a pregnant women’s blood, which contains a fraction of DNA from the placenta. NIPT is mainly offered to women with elevated risk of fetal chromosomal abnormalities detected by combined ultrasound and biochemical (CUB) screening.

With support from Clinical Genomics Uppsala, NIPT has been set up in-house at the division for Clinical Genetics at Uppsala University Hospital. The facility developed a visualization tool that greatly facilitated the interpretation of the sequencing results. 

“The advantage of performing NIPT in-house is that we now can perform all prenatal diagnostic tests locally at Clinical Genetics in Uppsala. It gives us the flexibility to control when to initiate the test and also the possibility to have the test with shorter turn around time to a lower cost” says Izabella B Körberg, who is responsible for NIPT at Clinical Genetics.

The visualization tool developed by Clinical Genomics Uppsala shows the fraction of fetal DNA (FF; y-axis) in the sample and a statistical score (normalized chromosome value; NCV) for chromosome 13 (x-axis). In this example, sample P19-04280 (indicated with an arrow) lies to the right of the red vertical line, and has an increased risk of trisomy 13. The remaining samples to the left of the red vertical line show normal result for chromosome 13.

Last modified: 2024-02-23