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New faster prenatal test could save IVF patients thousands of dollars

Researchers at the Columbia University Fertility Center, with funding from the National Institutes of Health, have developed a new test that can detect chromosomal abnormalities in an embryo or fetus much faster than currently available technology and at a fraction of the cost.

The test, known as STORK (Short-read Transpore Rapid Karyotyping), could affect the treatment of patients who have had a miscarriage, are pregnant or undergoing IVF.

“STORK tests take hours instead of days or weeks, cost a couple hundred dollars instead of a couple thousand dollars, and can be done at the point of care instead of being sent to a reference lab,” he said. The doctor. Zev Williamslead author of the study, told HuffPost.

Like currently available tests, STORK identifies aneuploidies, or chromosomal additions or deletions, which are “by far the most common cause of miscarriage and the leading cause of developmental delays and birth defects,” Williams said. The test also indicates the sex of the embryo or fetus.

Examples of aneuploidies include trisomy 13, or Patau syndrome, which affects multiple organ systems and is usually fatal before the child is 1 year old, and trisomy 18, or Edwards syndrome, which often results in miscarriage or fetal death. Trisomy 21, or Down syndrome, is the best known of these conditions, but one of the least serious. While trisomy 21 makes miscarriage and stillbirth much more likely, it’s also possible for people with Down syndrome to live well into adulthood.

Keep in mind that while STORK and other karyotype tests detect aneuploidy, they do not detect monogenic diseases that result from a gene mutation. Testing for these diseases, such as sickle cell anemia and cystic fibrosis, would require additional testing.

The technology used by the STORK Test analyzes DNA samples 15,000 times faster than current methods, delivering results in less than two hours. Current tests, which involve sending samples to a lab, require days or weeks to wait for results.

In their tests, the researchers examined 218 biopsy samples from embryos, miscarriages and pregnancies. The STORK results were in agreement with the results of the standard tests in all pregnancy samples and in 98% of the embryo samples. The two tests did not have matching results for 10 miscarriage samples, but the researchers later determined that the STORK results were accurate.

The STORK test involves a compact device that fits in the palm of a hand and can process up to 10 samples at a time, further reducing costs. The study team estimates that it will cost $200 to run a sample, but only $50 if 10 samples are run at once. Current standard tests can cost thousands of dollars, and insurance companies often don’t cover genetic testing for a miscarriage if it’s the patient’s first.

The STORK device, shown in front of an abnormal miscarriage test result.

Williams and her colleagues are currently awaiting approval from the New York State Department of Health to begin offering the test to Columbia patients.

The availability of the test could affect the time and cost of IVF cycles. Currently, patients who choose to have their embryos genetically tested, usually in order to select those most likely to result in a viable pregnancy, must freeze their embryos after they are biopsied and then wait a month to transfer. one or more to the uterus. . With STORK, however, “an embryo can be analyzed in the morning and transferred in the afternoon,” Williams said. Patients would save the cost of freezing embryos, which can be $5,000 or more. (The studies do not show a significant difference in success rates between frozen and “fresh” embryo transfers).

As for pregnancy care, patients who undergo amniocentesis after 15 weeks or chorionic villus sampling (CVS) between 10 and 13 weeks will receive test results much sooner. faster. But the ability to act on those results would depend on where they live.

“For those who live in states with the most restrictive abortion laws, unfortunately, this test will not change much,” Mrs. Gregorionurse practitioner and professor of nursing at Regis College, she told HuffPost.

Abortions in those states are now not available to patients who have been pregnant long enough to have tests like amniocentesis or CVS, even if the test results come back quickly. But in a state like Florida, which currently bans abortion after 15 weeks, the speed of STORK testing could prove significant.

The test also eases the psychological burden of waiting for the results.

“Women and families awaiting the results of these tests when they are done with suspicion and concern for the fetus experience a great deal of emotional stress,” Gregory said. “Having the ability to do in-office testing can alleviate this.”

“If the pregnancy loss is determined to be genetically abnormal, that provides a sense of closure, enhances feelings of guilt and guilt, and provides reassurance for [a patient’s] next pregnancy.

-dr zev williams

STORK’s low cost could make genetic testing after miscarriage much more widely available. It also simplifies the process. Currently, labs have to culture cells from a miscarriage, a task that can take weeks and isn’t always successful, sometimes leaving patients with no answers.

“The most common reason for pregnancy loss is a chromosomal defect. This defect accounts for about half of all miscarriages,” said Dr. hugh taylorchair of obstetrics, gynecology, and reproductive sciences at Yale, he told HuffPost.

“The test will allow a quick and inexpensive way to determine if this is the cause or if we need to look for another reason for the leak,” Taylor said.

Not everyone who miscarries wants to know the genetic information about the pregnancy, but many do. Amy Klein, who writes about her struggle to maintain a pregnancy in her book “the test game,” she told HuffPost, “when my fourth miscarriage came back normal, I knew it wasn’t a problem with my age but with my body.”

Klein is hopeful that increased access to testing will help people who lose a pregnancy make decisions about moving forward. “Women who experience multiple miscarriages are undertreated,” she said.

“If the pregnancy loss is found to be genetically abnormal, that provides a sense of closure, enhances feelings of guilt and guilt, and provides peace of mind for your next pregnancy,” Williams added.

While the test cannot provide any information not currently available, its speed alone makes it remarkable.

“I think there is something very encouraging about using the most advanced technologies to address fertility and pregnancy loss, two of the oldest human affections,” Williams said.

“There’s a trend toward rapid self-screening like we’ve seen during COVID,” Taylor said. “Many tests that were traditionally performed only in laboratories are now performed at home or in a doctor’s office.”

“This particular test is much more complex than most simple home tests,” Taylor continued. “The successful development of a fast and affordable option demonstrates that even very complex genetic tests can be made simple through the intelligent use of modern technology to improve patient care.”


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