Bagaimana cara kerja NIPT by GenePlanet?

NIPT by Geneplanet is a non-invasive, risk-free prenatal test that has over 99% sensitivity for the three most common trisomy conditions present at birth – Down Syndrome, Edwards Syndrome and Patau Syndrome.

While these facts are great and reassuring, the concept behind the test can seem quite abstract to a lot of people. How is it possible to take a bit of blood and detect 70 potential chromosomal abnormalities?

Let’s peek behind the curtain and find out!

NIPT by Geneplanet method

NIPT by Geneplant requires a 10 ml sample of the maternal blood and can be done from the 10th week of pregnancy. Why not sooner? Because there is not enough cell-free fetal DNA in the bloodstream yet.

Okay… so what is cell-free DNA?

Cell-free DNA fragments are short fragments of DNA circulating in the blood. During pregnancy, cell-free DNA fragments originating from both the mother and the fetus circulate in the maternal blood.

However, cell-free fetal DNA represents only a minor part of the total cell-free DNA fragments in maternal blood. This poses a significant technical challenge for some NIPT detection methods.

How does NIPT by Geneplanet deal with this challenge?

First of all, the test requires at least 3.5% fetal fraction (cell-free fetal DNA). Any less and the analysis can’t be done. That’s why NIPT by Geneplant can be done from 10th week on pregnancy onwards as % of the fetal fraction increases with time.

Then the test sequences and analyses millions of fragments of both fetal and maternal DNA from each sample with the help of cutting edge massively parallel sequencing technology.

NIPT by Geneplanet analyses data across the entire genome and compares chromosomes in the tested sample to the optimal reference chromosomes to accurately determine the presence of a genetic abnormality. If aneuploidies are present, small excesses or deficits in

counts of the affected chromosome are detected.

As opposed to the ‘targeted sequencing’ methods employed by some other NIPT tests, this methodology allows for highly accurate results regardless of the clinical symptoms of the patient and a broader range of testing options including for trisomy, sex chromosome aneuploidies, and deletion and duplication syndromes.

Hopefully, this article provided some interesting and helpful info on the process and methodology behind NIPT by Geneplanet.

At this point let us also mention that even during the COVID-19 pandemic NIPT testing and sample analyses remain safe and do not represent any risk for the fetus. If you want to do a NIPT by Geneplanet test, there’s no reason to hesitate.

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