Non-Invasive Prenatal Testing NIPT

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What is NIPT?
About the analysis

Non-invasive prenatal testing (NIPT) is a screening method used during pregnancy to analyse small fragments of fetal DNA circulating in the maternal bloodstream. NIPT can detect common chromosomal abnormalities and selected microdeletions, depending on the specific test design.

The test is called non-invasive because it requires only a maternal blood sample, posing no risk to the fetus.

NIPTIFY is a NIPT (Non-invasive Prenatal testing) solution provided by Celvia CC AS and used in Genomics Lab.

During the NIPTIFY test, cell-free fetal DNA (cffDNA) isolated from a pregnant woman’s blood sample is analysed with the Focus Plus method (Fragmented DNA Compact Sequencing Assay for enriched fetal material) and sequenced with Illumina technology. The risk estimates for fetal chromosomal diseases are calculated based on whole genome data.

NIPTIFY screens for the most common chromosomal conditions, including:

Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)
Monosomy X (Turner syndrome) – when one X chromosome is missing in a female fetus
22q11 microdeletion (DiGeorge syndrome)

NIPTIFY performs a genome-wide study and has the power to identify copy-number variances in entire chromosomes (trisomies or monosomies), deletions and duplications in clinically significant regions (microdeletions or microduplications), and point mutations in mitochondrial DNA. There are five types of conditions under analysis:

Trisomy or monosomy in autosomal chromosomes other than 13, 18, 21.
Sex chromosome aneuploidies like Klinefelter (XXY), Jacobs (XYY), or triple X (XXX) syndromes.
Segmental aneuploidies in chromosomes 13, 18, 21, i.e. partial trisomy or monosomy of a chromosome.
Microdeletions and Microduplications larger than 1 Mb.
The 18 most clinically relevant and frequent regions are analyzed.
DNA point mutations in mitochondrial DNA. With some mitochondrial DNA mutations (1095T>C, 1494C>T, and 1555A>G), the patient may develop hearing loss and deafness when treated with antibiotics of the aminoglycoside class. Alternative antibiotics can be used if the mutation is present.

NIPTIFY offers exceptional accuracy:

Sensitivity greater than 99.9% for trisomies 21, 18, and 13, monosomy X, and 22q11 microdeletion.
Specificity greater than 99.9% for trisomies 21 and 18, and the 22q11 microdeletion.
Specificity of 99.2% for monosomy X and trisomy 13.

Frequently Asked Questions

Why NIPT?

Pregnancy screening involves a series of tests such as ultrasound and blood biochemistry, performed at different stages of pregnancy to assess various parameters. NIPT is a screening procedure which can be performed from as early as 10+ weeks of pregnancy and has the following advantages:

Key Advantages of the NIPTIFY Test:

– Non-invasive. The test requires only a sample of the mother’s venous blood, completely eliminating the risks associated with invasive procedures.

-Direct fetal DNA analysis: It examines Circulating cell-free DNA (cfDNA), which contains fragments of both maternal and placental origin, allowing highly accurate assessment of the fetus’s genetic status without relying on biochemical markers.

– High accuracy: The test is highly reliable, with sensitivity and specificity above 99%, especially for trisomies 21, 18, and 13 in singleton pregnancies.

– Earlier testing. Available from 10 weeks of pregnancy, allowing time for subsequent confirmation of the diagnosis and decision-making.

– Comprehensive analysis: In addition to common aneuploidies, NIPTIFY screens for microdeletion syndromes, sex chromosome aneuploidies, and some rare chromosomal abnormalities, providing broader clinical insight.

-NIPTIFY uses the modern Focus Plus DNA sequencing technology, which enriches fetal DNA. As a result, NIPTIFY analysis 3.6 times more fetal origin DNA than a regular NIPT test, increasing the accuracy and sensitivity.
– NIPTIFY is suitable for pregnancies achieved through assisted reproductive technologies (ART), including IVF.

Is it safe?

The test only requires a one-time blood collection, is risk free, and not stressful for the pregnant women.

Please note. NIPT does not replace the traditional screening procedures. NIPT has higher sensitivity for genetic disorders and is available earlier, but ultrasound can also assess other developmental defects. NIPT is a screening, not a diagnostic test; High-risk results must be confirmed by invasive diagnostic procedures such as chorionic villus sampling (CVS) or amniocentesis.