On April 1st, 2015 – 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 performance of noninvasive prenatal screening in a multicenter cohort of women who had received positive results from the screening and were referred for invasive prenatal diagnostic testing to confirm the presence of fetal aneuploidy. They compared the results of the noninvasive prenatal screening reported by Sequenom, BGI, Illumina, Natera, Ariosa Diagnostics and Integrated Genetics.
Researchers described that intrinsic biologic factors such as somatic mosaicism, confined placental mosaicism, and maternal copy-number imbalance are true sources of false positive and false negative results of noninvasive prenatal screening. According to the study, BGI’s NIFTY® Test had a true positive of 87% and false positive of 13%. Among the six laboratories, BGI demonstrated the best test performance.
As of April 2015, NIFTY® is offered by more than 2000 healthcare providers in more than 60 countries including England, Australia, Spain, Singapore, Israel, Poland, the Czech Republic, Turkey, Thailand and China, with nearly 500,000 test samples processed so far with an accuracy rate of more than 99%.
Considering the intrinsic biologic factors, researchers suggested following the recommendation by the American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine, namely that positive findings through noninvasive prenatal screening must be followed by invasive prenatal diagnostic testing before any irreversible decisions are made.