In the early stages of pregnancy, as well as during the in vitro fertilization process and after multiple miscarriages, a test may be offered to detect any abnormalities in the fetal chromosomes. Those abnormalities—causing either missing or extra chromosomes—can lead to congenital and genetic disorders or, in some cases, miscarriage.
And while that genetic screening process can be an expensive and time-consuming one, since tests can ring in at several hundred dollars each and usually need to be shipped off to clinical laboratories for analysis, a new test backed by the National Institutes of Health is aiming to break down those barriers.
Not only does the new screening tool return results within a single day, but it’s also just as accurate as its slower-moving counterparts, according to a study published Thursday in the New England Journal of Medicine.
The Short-read Transpore Rapid Karyotyping, or Stork, test was designed to read the amniocentesis and chorionic villus samples typically used in prenatal genetic tests, as well as biopsies of IVF-developed embryos and tissue samples collected after miscarriage.
That makes it useful not only as a screening tool in the early stages of pregnancy but also as a way to evaluate IVF embryos before implantation and to identify a genetic cause of miscarriage.
On top of that multi-pronged use, the test is also much faster than standard clinical tests—churning out results in just a few hours, since it can be performed at the point of care. It may also be less expensive, with the researchers suggesting that each test could drop below $50 if 10 samples are run simultaneously. That price rises to about $200, however, if samples are tested individually.
A pair of researchers from Columbia University’s Fertility Center and Irving Medical Center led the NIH-funded study. When they tasked technicians in a clinical lab certified for quality testing with running the Stork test on 60 samples, the results were a 100% match for those of standard prenatal screening.
That success held up even beyond the CLIA-certified lab. When the Stork test analyzed another 218 samples in a standard lab setting, it maintained an accuracy level of at least 98%.
In a Thursday news release about the study, the NIH pointed out that the test could streamline the IVF process by eliminating the need for embryos to be frozen during the days or weeks it can take to complete genetic analysis. That freezing and thawing eats up more time and can also add an extra expense to already pricey IVF procedures.
Additionally, the Stork test could be “particularly useful” in detecting the underlying causes of miscarriage, the agency noted. Since the test can be run quickly and affordably, it could be used as soon as a patient’s first miscarriage occurs—in contrast to traditional testing protocol, which recommends genetic testing only after multiple miscarriages.