NIFTY™ 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 fetus (cffDNA) are present in maternal blood circulation.

The NIFTY™ test requires taking a small maternal blood sample of 10ml. cfDNA in the maternal blood is then analysed to detect for chromosomal abnormality. If aneuploidy is present, small excesses or deficits in counts of the affected chromosome will be detected.

NIFTY™ effectively resolves the difficulty in measuring the small increments in the specific chromosome DNA concentration through use of massively parallel sequencing technology (MPS). This means NIFTY™ sequences millions of fragments of both fetal and maternal DNA from each sample. Using whole genome sequencing technology and four different proprietary bioinformatics analysis pipelines, the NIFTY™ test is able to analyse data across the entire genome and compare chromosomes in the tested sample against optimal reference chromosomes to accurately determine the presence of genetic abnormality.

As opposed to the ‘targeted sequencing’ methods employed by some other NIPT tests, the NIFTY™ methodology allows for highly accurate results irrespective of the clinical symptoms of the patient, and a broader range of testing options including for trisomy, sex chromosomal aneuploidy and deletion syndromes.