The NIPT by GenePlanet test presentation

The NIPT by GenePlanet is a highly accurate non-invasive prenatal test that screens for chromosomal aneuploidies, including trisomies 21, 18, and 13, from week 10 of pregnancy. The test provides significantly stronger risk indication than traditional screening procedures. With a detection rate of > 99% (validated on over 147,000 pregnancies) and a false-positive rate of just 0.14% for trisomies 21, 18, and 13, our test ensures that the number of women undergoing unnecessary invasive diagnostic procedures is significantly reduced.

5,000,000

NIPT SAMPLES PROCESSED

To this date, over 5,000,000 NIPT samples have been analysed with our technology.

Testing options

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Tests

Basic
Standard
Plus
Twins

Most common trisomies

Down syndrome/
trisomy 21

Edwards syndrome/
trisomy 18

Patau syndrome/
trisomy 13

Additional trisomies

Trisomy 9

Trisomy 16

Trisomy 22

Sex chromosome aneuploidies

Turner syndrome/
monosomy X

Klinefelter syndrome/XXY

Triple X syndrome/XXX

Jacobs syndrome/XYY

Deletion and duplication syndromes

Gender information

NIPT by GenePlanet test methodology

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Fetal cell-free DNA fragments in mother's blood

Cell-free DNA (cfDNA) are short fragments of DNA found in the bloodstream. During pregnancy, mother's blood contains both her and her fetus' cell-free DNA.

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NIPT by GenePlanet test requires only a blood sample

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

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Massive parallel sequencing of DNA fragments

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

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Data analysis and identification of genetic abnormalities

With the whole genome sequencing technology and four different bioinformatics algorithms, we can analyse the data of the entire genome. We can compare the chromosomes in the tested sample with the optimal reference chromosomes and thus accurately determine the presence of genetic abnormalities.

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NIPT by GenePlanet test method provides extremely accurate results

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 patient's clinical symptoms. It also tests for a wider range of conditions; trisomies, sex chromosome aneuploidies, microdeletions, and duplications.

Frequently asked questions

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