(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.



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.

WHO need NIPT?

  • Above 30 years old, specially over 35

  • Have previous poor pregnancy

  • 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 chromosome disorder


NIPT is the cost-effective and accurate method of measuring fetal fraction using SNP imputation

through NGS (Next-Generation Sequencing) technology.


  • Blood collection from pregnant women (from 10weeks gestation)

  • Sampel Q.C. (Quality control)

  • DNA Library generation 

  • Sequencing (decoding DNA) 

  • Data Analysis (BioInofrmatics)

  • Detect fetal chromosomal aneuploidy



Basic Test

  • Gender information

  • Down syndrome, Edwards syndrome, and Patau syndrome : 99% sensitivity

  • Turner syndrome, klinefelter syndrome, superfemale syndrome, jacobs syndrome : 95% sensitivity

Plus Test

  • Trisomy 22, 9 ,16

  • Micro deletions for
    1P36, Cri-du-Chat (5P), 2q33.1, Jacobsen syndrome(11q23),
    Prader-Willi /Angelman syndrome (15q11.2), DiGeorgeII
    (10p14), 16p12.2, Van der Woude syndrome(1q32.2)