Novel same-day test developed to identify extra or missing fetal chromosomes


Scientists funded by the Nationwide Institutes of Well being have developed a same-day take a look at to determine irregular fetal chromosomes. The Brief-read Transpore Fast Karyotyping (STORK) take a look at can detect further or lacking chromosomes (i.e., aneuploidy) utilizing samples collected from prenatal exams, akin to amniocentesis and chorionic villus sampling, in addition to tissue obtained from miscarriage and biopsies from pre-implantation embryos produced utilizing in vitro fertilization (IVF). The examine is led by Brynn Levy, Ph.D., and Zev Williams, M.D., Ph.D., from Columbia College Fertility Middle and Columbia College Irving Medical Middle, New York Metropolis, and is supported by NIH’s Eunice Kennedy Shriver Nationwide Institute of Youngster Well being and Human Improvement (NICHD) via the Human Placenta Undertaking.

The examine workforce in contrast STORK to straightforward strategies by testing 218 samples that included tissue from miscarriage, chorionic villi, amniotic fluid and trophectoderm biopsies, that are used to guage embryos earlier than IVF implantation. On this set of samples, STORK had an accuracy of 98 to 100%. In one other set of 60 samples, technicians in a scientific laboratory licensed for high quality testing, referred to as a Scientific Laboratory Enchancment Amendments certification, carried out STORK. In these samples, STORK was 100% in accordance with customary scientific testing.

Total, the examine exhibits that STORK is comparable to straightforward scientific exams and has many benefits. STORK is quicker, offering outcomes inside hours versus a number of days. Additionally it is cheaper, with the examine workforce estimating STORK to price lower than $50 per pattern, if 10 samples are run on the identical time, or as much as $200 if a pattern is run by itself. STORK can be carried out on the point-of-care for a affected person, eliminating the necessity to ship a pattern to a scientific laboratory.

In keeping with the examine authors, STORK could also be notably helpful in figuring out genetic causes of miscarriage. At present, skilled societies solely advocate genetic testing if an individual has had a number of miscarriages, however a straightforward, cost-effective take a look at like STORK can doubtlessly be supplied after the primary miscarriage. STORK can be used to streamline the IVF course of. At present, embryos have to be frozen whereas genetic exams are run and analyzed earlier than implantation. STORK’s means to supply outcomes inside hours can presumably remove this freezing step, which saves time and value. Extra work is required to validate STORK, but when outcomes proceed to indicate promise, STORK may enhance the standard of reproductive healthcare.

Extra NIH funding comes from the Nationwide Most cancers Institute.


Journal reference:

Wei S, et al., Nanopore-based sequencing for speedy aneuploidy evaluation in reproductive care has important benefits. New England Journal of Drugs DOI: 10.1056/NEJMc2201810 (2022)

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