A couple of years ago, researchers from the Baylor College of Medicine, the Chinese University of Hong Kong and the University of Hong Kong have published a study titled Accurate Description of DNA-Based Noninvasive Prenatal Screening in The New England Journal of Medicine. The study found that BGI’s NIFTY® test performed better than all other NIPT tests examined. In the study, researchers evaluated the…
The goals of the study were to develop a noninvasive pre- natal test for autosomal recessive monogenic conditions and to prove its overall feasibility and potential for clinical integration. The accuracy levels of paternal and maternal haplotypes obtained by grandparent-assisted haplotype phasing were 99.01 and 97.36%, respectively, and the proband-assisted haplotype phasing process yielded slightly lower accuracies of 98.73 and…
Did you know BGI Diagnostics’ NIFTY™ test was the first NIPT based on Next Generation Sequencing Technology to be Approved by the China Food and Drug Administration (CFDA)? On June 30, 2014, the CFDA approved the registration of BGI’s BGISEQ-1000 and BGISEQ-100 sequencers, and its prenatal genetic testing kits for NIFTY™ (Non-Invasive Fetal Trisomy test). This is the first genetic…
BGI has published a study tracking the clinical performance of its whole genome sequencing-based non-invasive prenatal test (the NIFTY® test) in nearly 147,000 pregnancies, the largest such study to date. The results showed high sensitivity and specificity and no significant difference between high-risk and low-risk pregnant women. The study, published today in the journal Ultrasound Obstetrics and Gynecology, reported on…
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