Non-invensive fetal chromosomal aneuploidy

detection by NGS

Theragen GenomeCare proudly

published the clinical results of NIPT through worldwide authoritative scientific journals for NIPT research.

The 1st Research

The Feasibility Study of Non-Invasive Fetal Trisomy 18 and 21 Detection with Semiconductor Sequencing Platform​ with the 1st clinical result for NIPT

(PLOS ONE, October 2014)


Recent non-invasive prenatal testing (NIPT) technologies are based on next-generation sequencing (NGS). NGS allows rapid and effective clinical diagnoses to be determined with two common sequencing systems: Illumina and Ion Torrent platforms. The majority of NIPT technology is associated with Illumina platform. We investigated whether fetal trisomy 18 and 21 were sensitively and specifically detectable by semiconductor sequencer.

Theragen GenomeCare is the first company in Korea who published three clinical papers in PLOS ONE and BMC Medical Genomics, the world's famous SCI-class journals, and technical papers in the Bioinformatics (BI) journal. In addition, we have remarkably increased the reliability of inspection by acquiring the applied BI science patent in Korea.

Advanced Clinical Trials

The 2nd clinical result for NIPT

(BMC Medical Genomics, April 2016)

The 3rd clinical result for NIPT

(BMC Medical Genomics, October 2016)

NIPT Analytic Research

Cost-effective and accurate method of measuring fetal fraction using

SNP imputation (Bioinformatics, April 2018) 

GenomomFF: Cost-Effective Method to Measure Fetal Fraction by Adaptive Multiple Regression Techniques With Optimally Selected Autosomal Chromosome Regions (IEEE Access, June 2020)