Researchers from the Columbia University Fertility have developed a new prenatal test called STROK that identifies if a fetus or embryo has the right number of chromosomes in a very short time and at low cost compared to clinical genetic tests currently available on the market, which are expensive and take days or even weeks to get results.
The new STORK test (Short-read Transpore Rapid Karyotyping), can be used in the doctor’s office at the point of care, provides results in less than two hours, and is approximately 10 times less expensive to process per sample than current tests.
THE test details have been published in the scientific journal New England Journal of Medicine.
STROK: this is how the new test that detects chromosomal abnormalities works
“We are developing the most advanced technologies to solve some of the oldest afflictions: infertility and pregnancy loss “said study leader Zev Williams, MD, Ph.D., Wendy D. Havens Associate Professor of Women’s Health and head of the Division of Reproductive Endocrinology and Infertility at the Columbia University Vagelos College of Physicians and Surgeons: “Our hope is that the new STROK prenatal test will help improve women’s health, reduce costs and improve access to care.”
The chromisomal abnormalities that STROK can detect are, by far, the most common causes of miscarriage, structural abnormalities and developmental delays. Prenatal genetic testing is recommended for pregnant women 35 years of age or older, with a family history of genetic disorders, or who have had one or more miscarriages. STROK is also being used more and more often during in vitro fertilization (IVF) to test embryos before implantation to improve the chances of pregnancy and reduce the risk of miscarriage.
Like the prenatal genetic testing currently available, STROK examines tissue from an IVF placenta or embryo biopsy to determine if it has a normal number of chromosomes. With current tests, however, samples obtained in a doctor’s office have to be shipped to a specialized laboratory that grows cells or uses expensive technology to analyze DNA, increasing time and cost.
“What’s so exciting is that STORK can be used to quickly assess chromosomal health in all types of reproductive tissue,” Williams explained: “For those patients who are trying to get pregnant through IVF, the test gives the ability to conceive earlier. For those who are already pregnant, it gives more time to make important family planning decisions. For those who have had a miscarriage, it can show why the loss occurred so that you can take steps to prevent future pregnancy losses. ”
In a method pioneered by Williams together with his team of collaborators, nanopore-based sequencing technology is used to analyze tiny fragments of DNA 15,000 times faster than currently available chromosome testing methods, significantly reducing the time it takes to get results.
STROK also uses much smaller equipment, the size of a harmonica and weighing only 450 grams, making it accessible for use in medical offices.
The team of scholars tested STORK in 218 blinded samples of miscarriages, pregnancies (via amniotic fluid or chorionic villi, tiny growths in the placenta) and biopsies of embryos before implantation. The results were compared with those obtained using standard clinical tests. The results obtained with STROK un are in agreement with standard clinical tests in all pregnancy-related samples and in 98% of the tested embryos.
For miscarriage samples, STORK was more accurate than standard tests and it was determined that chromosome numbers correctly identified in the 10 cases for which the two tests disagreed. Another 60 pregnancy samples were tested with STORK at an independent certified laboratory and those results were identical to the results obtained with standard clinical tests.
IVF embryos, which are typically biopsied for chromosome tests on the fifth or sixth day, are frozen for weeks until they can be transferred to a woman’s uterus, adding thousands of dollars to the cost of fertility treatment. . Freezing may not be necessary with rapid tests, as normal embryos could be transferred immediately.
“Accessibility to the new STROK prenatal test also means that people who have suffered a miscarriage don’t have to wait until a second or third loss before insurance covers expensive lab tests, leaving many women in the dark and often blaming. themselves, ”Williams concluded:“ Our study also shows that STROK is fast and better than the gold standard for testing miscarriage samples, giving women who have experienced a pregnancy loss a sense of closure and the ability to take steps to prevent another loss “.
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