TECHNOLOGY
Fetal DNA fraction increased by up to 846%
Improved test success rate
Higher accuracy and positive predictive value compared to conventional testing
Enhanced potential for early detection of rare abnormalities
The accuracy of non-invasive prenatal testing (NIPT) is heavily dependent on the proportion of fetal DNA present in maternal blood—known as the fetal fraction. This technology was designed to secure a higher fetal fraction by leveraging the unique fragment size characteristics of fetal DNA in next-generation sequencing (NGS).
Because fetal DNA fragments are shorter than maternal DNA fragments, selectively targeting reads within a defined size range enriches for fetal-derived cell-free DNA (cfDNA). After sequencing cfDNA extracted from maternal blood, smaller sequences within a specified range are filtered, thereby increasing the proportion of fetal DNA available for analysis.
Observations confirmed that DNA fragments 140–200 bp or shorter are more likely to be fetal in origin. By narrowing the analysis cutoff from 170 bp to 140 bp, the fetal fraction nearly doubled. Furthermore, when randomly removing half or up to 90% of DNA fragments longer than 140 bp, an increase in fetal fraction and a shift in overall fragment distribution toward shorter lengths were observed.
These findings were applied to chromosome-based analyses (e.g., Y chromosome–based, SNP-based) as well as machine learning–based fraction estimation methods, enhancing the reliability of genomic analysis and improving test success rates without the need for re-sampling.
This technology has been implemented as an algorithm, making it easy to integrate into computer programs or analysis pipelines. It contributes directly to improving the accuracy of prenatal testing. Through fetal fraction enhancement, GenomeCare has achieved significantly higher accuracy and positive predictive value compared to conventional methods, with fetal fraction increased by up to 846% and markedly improved potential for early detection of rare disorders. The technology is also expected to expand to twin pregnancies and complex genomic abnormality detection in the future.
| Conventional NIPT | New NIPT | |
|---|---|---|
| 6 weeks | 84.6% | 92.3% |
| 7 weeks | 85.1% | 100% |
| 8 weeks | 87.5% | 100% |
| 9~13 weeks | 87.8% | 100% |
Qiao et al., Journal of Translational Medicine 2022
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