NIPT – Early,Simple,Accurate and Risk free test for Down syndrome.

Yourgene Bioscience founded in 2010, provides high-quality sequencing and customized bioinformatics solutions, Cloud-based NGS Platform and genetic testing services for research institutions, universities and hospitals as well as domestic and foreign industries. Yourgene Core Laboratory owns two major NGS platforms (Illumina and Life Technology) and is accredited by Illumina’s Certified Service Provider and Ion AmpliSeq™ Exome Certified Service. In 2013, Yourgene Core Laboratory passed the certification of Illumina HiSeq2500 TAF (No. 2738).

NIPT, which analyzes cell-free fetal DNA circulating in maternal blood,  is a new option in the prenatal screening and testing paradigm for trisomies  21,18,13 and a few other fetal chromosomal aneuploidies.

NIPT test provides an estimation of the fetal risk being affected with “Chromosomal  Aneuploidies”,by detecting fetal chromosomal materials with the new generation of high-throughput sequencing technology, combined with advanced bioinformatics analysis. This method is non-invasive, carries no risk of causing miscarriage and intrauterine infection and is highly sensitive with accuracy over 99%.

The Science Behind NIPT

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 are present in the maternal blood circulation.

The NIPT test requires taking a small maternal blood sample. cfDNA in the maternal blood is then analysed with our proprietary genetic sequencing technology and bioinformatics pipelines to screen for any chromosomal abnormality in the fetus. If any abnormality is present, small excesses or deficits in counts of the affected chromosome can be detected.

The technology behind the NIPT test allows for highly accurate results with detection rates for the three most common trisomy conditions present at birth (Down Syndrome, Edwards Syndrome and Patau Syndrome) of over 99.5%. But it’s important to understand that non-invasive prenatal tests such as NIPT are classified as screening tests. This means that they do not test with 100% accuracy, as with an invasive diagnostic procedure such as amniocentesis.


When NIPT is performed?

Testing can be done any time after 10 weeks; typically it is done between 10-24 weeks. Results can take 7-10 working days.


Advantages of NIPT

Ø  Highly accurate : The NIPT test uses the Nex-generation sequencing technology to reach a detection  rate of >99.9%.

Ø  SimpleThe NIPT test only requires 10 ml of maternal peripheral blood.

Ø  Risk-freeTesting peripheral maternal blood prevents intrauterine infection and the risk  of miscarriage.

Ø  Early-testThe NIPT test allows testing as early as the tenth week of gestation.


Service Work Flow

nipt in india

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