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E-NIPT
(Expanded Non-Invasive Prenatal Test)

Recently, pregnant women with fetuses at high risk of defects are remarkably increased due to social and environmental risk factors’ increasing such as late marriage, pollution, and stress. Thus, chromosomal abnormalities of the fetus are also increasing. Inevitably, state-of-art technology for the detection of fetal trisomy such as the “Non-Invasive Prenatal Test (NIPT) of the fetal genome” is a hot global issue nowadays. existing selective fetal genome tests have been bore up on high-risk pregnant women because the services commonly were accompanied by other invasive tests such as amniocentesis and chorionic villi sampling (CVS) due to relatively lower sensitivity. Thanks to the newest NGS technologies, chromosomal abnormalities are non-invasively detectable with over 99% confident sensitivity and specificity level. GenomomAI  is a safe and highly accurate genetic screening test based on  AI technology & NGS ( using Whole Genome data ), offered during pregnancy to detect fetus chromosomal disorders.

WHAT is
E-NIPT?

The E-NIPT test is an expanded version of the NIPT by introducing AI technology in the NIPT field. It is a safe & highly accurate screening test based on Whole Genome Sequencing (WGS). The e-NIPT test analyzes the chromosomal aneuploidies in the fetus using highly accurate AI models. E-NIPT can detect 165 types of genetic abnormalities including, Trisomy 21 (Down Syndrome), Trisomy 13( Patau syndrome), Trisomy 18( Edwards’ Syndrome), Sex Chromosome Aneuploidies and Copy Number Variations.
We developed E-NIPT AI models based on a mass number of positive & negative nipt data & verify them using actual data and expanded positive data.

WHO needs
E-NIPT?

  • Above 30 years old, especially over 35

  • Have abnormal results of ultrasound screening

  • Have high-risk results of serum prenatal tests

  • Have IVF treatment

  • Have multiple baby pregnancy

  • Have any family members suffering from the chromosome disorder

E-NIPT PROCESS

  1. Blood collection from pregnant women (from 10 weeks gestation)

  2. Sample Q.C. (Quality control)

  3. DNA Library preparation 

  4. Sequencing (decoding DNA) 

  5. Data Analysis based on AI (bioinformatics)

  6. Detect fetal chromosomal aneuploidy

  7. Result Report

LIST of TEST 
in E-NIPT

Standard Test

  • Gender information

  • Down syndrome, Edwards syndrome, Patau syndrome, and other Trisomy 1~22 

  • Turner syndrome, Klinefelter syndrome, superfemale syndrome, jacobs syndrome ( Sex Chromosome Aneuploidies )

Plus Test

  • Standard Test, 

  • 131 types Copy number variations (CNV)

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