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New Test May Make It Faster, Cheaper, and Easier to Detect Aneuploidy

by | Aug 23, 2022 | News

New Short-read Transpore Rapid Karyotyping test can identify fetal chromosomal abnormalities in a variety of samples.

A new same-day test could make it faster, cheaper, and easier to find abnormal fetal chromosomes, according to a study published in The New England Journal of Medicine on Aug. 18.

The research team, led by scientists from New York City’s Columbia University Fertility Center and Columbia University Irving Medical Center, found that their test, called the Short-read Transpore Rapid Karyotyping (STORK) test, can identify aneuploidy in a variety of different samples, including:

  • From prenatal tests, including chorionic villus sampling and amniocentesis
  • Tissue acquired from biopsies done on pre-implantation embryos created via in vitro fertilization (IVF)
  • Tissue acquired from miscarriages

Aneuploidy is a condition involving either a missing or extra chromosome in a fetus, which can have severe health outcomes for the child.

Study Summary

In the study, the researchers, who were funded by the National Institutes of Health (NIH), compared STORK’s performance to standard testing methods for aneuploidy in 218 samples, which included the sample types described above. The results showed STORK had an accuracy of 98 percent to 100 percent. They also tested the method in 60 samples in a CLIA-certified lab, showing it to be 100 percent “in accordance with standard clinical testing,” according to an NIH press release on the study.

Advantages of the New STORK Test

The study also showed STORK, while offering performance comparable to current methods, has several advantages over those options:

  • Faster—offers results in hours rather than several days
  • Cheaper—estimated to cost less than $50 per sample when 10 samples are run at once, or a maximum of $200 to run a single sample, vs other methods that can cost thousands of dollars, depending on the test
  • Easier—can be done at the point of care, rather than requiring a sample to be shipped to a lab

As far as applications, the NIH press release says the STORK test could be useful for saving time and costs relating to the IVF process or determining genetic causes of miscarriage. The test still needs further validation, but if that additional work pans out, “STORK could improve the quality of reproductive [health care],” the NIH says.

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