NIPT by GenePlanet Test Methodology

Cell-free DNA fragments (cfDNA) are short fragments of DNA, which can be found circulating in the blood. During pregnancy, cfDNA fragments originating from both the mother and the fetus are present in the maternal blood circulation.

The NIPT by GenePlanet test requires taking a small maternal blood sample. cfDNA in the maternal blood is then analysed with our proprietary genetic sequencing technology and bioinformatics pipelines to screen for tested chromosomal abnormality in the fetus. If abnormality is present, small excesses or deficits in the count of the affected chromosome can be detected.

Our test effectively overcomes the difficulty of measuring small surpluses of a particular chromosome in DNA concentration using massive parallel sequencing technology. This means that millions of fragments of fetal and maternal DNA are sequenced.

With the whole-genome sequencing technology and four different bioinformatics logarithms we can analyze the data of the entire genome and compare the chromosomes in the tested sample with the optimal reference chromosomes and thus accurately determining the presence of genetic abnormalities.

Contrary to the 'target sequencing' methods used by some other NIPT tests, the NIPT by GenePlanet test method provides extremely accurate results regardless of the clinical symptoms of the patient and a wider range of testing options, including testing for trisomies, sex chromosome anevploidies and microdeletions and duplications.