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."