Non-Invasive Prenatal Testing (NIPT)

NIPT (noninvasive prenatal screening) is the analysis of free—circulating fetal DNA in order to screen fetal aneuploidies of all chromosomes, including trisomies 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome), aneuploidies on sex chromosomes (Turner syndrome (monosomy X), Klinefelter syndrome (47,XXY), trisomy X (47, XXX), Jacobs syndrome (47, XYY)).

In addition, additional information is provided on:

- the risk of rare aneuploidies (including those on chromosomes 9, 16, 22),

- microdeletions/microduplications,

- Y-chromosome (for sex determination),

- random genetic findings.

Advantages:

·High-quality genetic research with risk assessment. Genome-wide sequencing of low-coverage free-circulating DNA by new generation sequencing (NGS)

·More than 10 million completed tests worldwide.

·Includes the widest panel in Kazakhstan - 84 genetic pathologies and syndromes.

·The test results are subject to three-stage verification: the results obtained using automated software are checked by a laboratory expert; anonymized data is checked by bioinformatics experts at the international company BGI, the world leader in the field of genetics and developer of the NIFTY test; the final interpretation of the results is carried out by a certified geneticist.

A noninvasive prenatal test for chromosomal abnormalities is more reliable and safer than other fetal aneuploidy tests.:

·Reliability above 99% (accuracy/sensitivity)

·100% safe. Non-invasive test is safe for mom and baby's health

·Can be carried out from 10 weeks

·Simplicity – 10 ml of venous blood is enough

·Reliability