Thousands of dollars could be saved by IVF patients thanks to a new, quicker prenatal test.

Thousands of dollars could be saved by IVF patients thanks to a new, quicker prenatal test.


With support from the National Institutes of Health, scientists at the Columbia University Fertility Center have created a novel test that can identify chromosomal abnormalities in an embryo or baby far more quickly and inexpensively than current methods.

The STORK (Short-read Transpore Rapid Karyotyping) test may have an effect on a patient's therapy if they are trying for a baby, are already pregnant, or are going through IVF.

According to Dr Zev Williams, the study's lead author, "STORK testing can be performed at the point of care rather than shipping to a reference lab, takes hours rather than days or weeks, costs a few hundred dollars rather than a few thousand dollars, and can be performed instead of shipping."

Aneuploidies, or chromosomal additions or deletions, are "by far, the most prevalent cause of miscarriage and a significant cause of developmental delays and congenital malformations," according to Williams. Like other tests now in use, STORK detects aneuploidies. The test also reveals the foetus' or embryo's sex.

Trisomy 13, or Patau syndrome, which impairs several organ systems and typically leads to death before a child reaches one, and trisomy 18, or Edwards syndrome, which frequently causes miscarriage or stillbirth, are two examples of aneuploidies. The most well-known of these disorders, or trisomy 21, is Down syndrome, albeit it is also one of the mildest. While miscarriage and stillbirth are significantly more probable in trisomy 21, people with Down syndrome can also live into their adult years.

It should be noted that while STORK and other karyotyping tests can identify aneuploidies, they cannot identify disorders that are caused by a single gene mutation, or monogenic diseases. A further test would be necessary to check for these illnesses, such as sickle cell anaemia and cystic fibrosis.

The STORK test uses technology that analyses DNA samples 15,000 times faster than conventional techniques, producing results in less than two hours. The current procedures, which entail shipping samples to a lab, need waiting days or weeks for the results.

Researchers tested 218 samples from biopsies of embryos, miscarriages, and pregnancies. In 98% of the samples of embryos and all pregnancy samples, STORK's findings agreed with those of conventional testing. For 10 miscarriage samples, the results from the two tests did not match, but additional analysis showed that the STORK results were reliable.

The STORK test uses a small, hand-sized gadget that can handle up to 10 samples at once, considerably lowering expenses. One sample will reportedly cost $200 to run, while ten samples will only cost $50, according to the study team.

Currently, available tests can go into the hundreds of dollars, and insurance companies frequently won't pay for genetic testing if the patient is experiencing their first loss.

Williams and his colleagues want to start providing the test to Columbia patients as soon as they receive permission from the New York State Department of Health.

The cost and timing of IVF cycles may be impacted by the test's accessibility. Currently, patients who choose to have their embryos genetically tested must freeze their embryos after they are biopsied and wait a month before transferring one or more into the uterus. This is typically done so they can choose the embryos that are most likely to result in a successful pregnancy. However, Williams noted that using STORK, "one embryo can be screened in the morning and transferred in the afternoon." Patients would avoid paying the $5,000 or more expense of freezing the embryos. (Studies reveal no discernible difference between "fresh" and frozen embryo transfers in terms of success rates.)

Patients who undergo chorionic villus sampling (CVS) at 10–13 weeks or amniocentesis after 15 weeks will receive test results considerably faster. But depending on where they live, they might not be able to act on those outcomes.

Donna Gregory, a nurse practitioner and professor of nursing at Regis College, told HuffPost that this test won't change much for people who reside in states with the strictest abortion restrictions.

Patients who have been pregnant long enough to undergo tests like amniocentesis or CVS are no longer eligible for abortions in certain states, even if the test results are returned quickly. However, in a state like Florida, where abortion is now prohibited after 15 weeks, the timeliness of STORK testing may prove crucial.

The wait for findings is psychologically lighter thanks to the exam.

When these tests are performed out of suspicion or worry about the foetus, Gregory said, "women and families face a great deal of emotional stress waiting for the outcomes of these tests." "Having an in-office testing option can help with this."

Due to STORK's low price, genetic testing after miscarriage may become considerably more accessible. It also makes the procedure simpler. Currently, miscarriage cells must be grown in labs; this process can take weeks and is not always effective, leaving patients in some cases in the dark.

Chromosome abnormalities are the most frequent cause of pregnancy loss. According to Dr Hugh Taylor, chair of obstetrics, gynaecology, and reproductive sciences at Yale, this abnormality is responsible for nearly half of all losses.

The test will provide a quick and affordable way to assess whether this is the cause of the loss or whether we need to seek other causes, according to Taylor.

Not everyone who miscarries is interested in learning the pregnancy's genetic makeup, but many are. In her book "The Trying Game," Amy Klein details her battle to carry a baby. According to Amy Klein, "after my fourth miscarriage tested normal, I knew it was not a problem of my age but my body," she told HuffPost.

Klein is optimistic that easier access to testing will aid those who lose pregnancy in making future decisions. Women who have multiple miscarriages receive extremely inadequate care, she claimed.

Williams continued, if the genetic abnormality of the pregnancy loss was revealed, that brings a sense of closure, lessens emotions of self-blame and shame, and provide reassurance for her next pregnancy.

Even while the test cannot provide any information that is not already known, its speed alone is impressive.

The use of cutting-edge technologies to address fertility and pregnancy loss—two of the oldest human afflictions—is something Williams found to be quite encouraging.

As we have observed throughout COVID, there is a trend toward quick self-testing, according to Taylor. Many tests that were previously exclusively carried out in labs are now done at home or in a doctor's office.

Taylor stated this specific test is much more complicated than most straightforward home tests. "The successful creation of a quick and affordable alternative shows that even very complicated genetic testing may be made simpler via deft use of modern technologies to enhance patient care."

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