Service Introduction
NIPT(Non-Invasive Prenatal Test)
Recently, pregnant women with fetuses at high risk of defects are remarkably increased due to the social and environmental risk factors’increasing such as late marriage,pollution and stresses. Thus, chromosomal abnormalities of the fetus are also increasing. Inevitably, state-of-art technology of detection of fetal trisomy such “Non-Invasive Prenatal Test (NIPT) of the fetal genome” is hot global issue now days. existing selective fetal genome tests have been bore up to high-risk pregnant women, because the services commonly were accompanied with 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. As result, NIPT are now evolving toward favorable and affordable prenatal diagnosis technique.

Non-Invasive Fetal Trisomy 18 And 21 Testing with NGS platform,
Ion Torrent Sequencing System


1. What isPGS for aneuploidy screening?


NGS stands for “Next Generation Sequencing”, the advanced technology of DNA sequencing with fast, accurate and high output performance.

2. NIPT Method

NIPT is a screening method for detecting certain specific chromosomal abnormalities in a developing baby.After 10 weeks of pregnancy, NIPT can detect whether your baby is at risk of fetal trisomy 13, 18 and 21 (Patau syndrome, Edwards syndrome, and Down syndrome) accurately.


3. List of Test in NIPT


· Down syndrome, Edwards syndrome, and Patau syndrome
  : 99% sensitivility
· Turner syndrome, klinefelter syndrome, superfemale syndrome,
   jacobs syndrome : 95% sensitivility

◀ picture. Down syndrome
source :


4. NIPT Process


5. Accuracy and reliability


NIPT using next generation sequencing technology have been delivered more accurate results for prenatal test of fetal abnormality since 2012 in US and other advanced personal genome analysis markets. Notable papers were published in major journal such as NATURE, PNAS and still related papers are publishing in main streams. Nevertheless of bit differences, NIPT results maintain over 99% accuracy.

◀ picture. NGS platform

6. Who we are

In October 2014, Genome Care published the clinical result of NIPT in PLOS ONE, worldwide authoritative scientific journal. Through these experiments, Genome Care became the first sacrificially verified NIPT service provider in Korea with world-class level of NGS and data analysis competency.

◀ picture. Published paper of the 1st clinical result for NIPT
(PLOS ONE, October 2014).
Click image for more detail.


◀ picture. Published paper of the 2st clinical result for NIPT
(BMC Medical Genomics, April 2016).
Click image for more detail.





◀ picture. Published paper of the 3st clinical result for NIPT
(BMC Medical Genomics, October 2016).  
Click image for more detail.

◀ picture. The Korean patent for NIPT detection method (May 2017).
Click image for more detail.








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