The new test can determine whether an unborn child will have a genetic disorder with nearly 100 percent accuracy in a matter of hours, and each test can cost as little as $50.
- Columbia University researchers developed a test that can detect whether an unborn child will suffer from a genetic disorder
- The test, titled STORK, only takes a few hours to generate a result and is nearly 100% accurate.
- Current tests are very expensive and force the mother-to-be to wait days before getting her result
- Researchers hope the test could expand access to prenatal testing while streamlining tests needed for IVF
A new test can tell a pregnant woman whether her unborn child will suffer from a genetic problem, and it can do it faster and cheaper than currently available tests.
The Short Read Transpore Rapid Karyotype (STORK) uses samples collected from an unborn fetus to determine whether it has extra or missing chromosomes. Although tests like this already exist, they are often very expensive and results can take days.
This test, developed by researchers at Columbia University in New York City, can provide a result in a few hours. If run in a batch of ten tests at a time, operating costs can be as low as $50 per test, a bargain for these types of assessments.
The researchers hope their findings can be used to help expand the number of people who receive prenatal testing. Right now, genetic testing is only recommended for women who have had multiple miscarriages. It can also enable rapid testing of embryos used in the in vitro fertilization (IVF) process.
The entire three-part process that STORK does to analyze samples to determine whether the unborn child will have a genetic disease takes only a few hours
The research team, which published its findings Thursday in the New England Journal of Medicine, tested its device on 218 samples.
Of this group, 63 had indicators that predicted the child would eventually be born with some type of genetic disorder.
These include conditions such as cystic fibrosis, fragile X syndrome, sickle cell disease and others,
The samples also came from different types of tissue: including chorionic villi, small parts of placental tissue, the amniotic fluid that surrounds an unborn fetus, and the products of conception.
They also collected tissue from trophectoderm biopsies, which is usually how the type of tissue examined for genetic disorders is collected.
It works by first taking the tissue sample and then sending it to the “short read preparation” phase, which takes about 45 minutes. This is where it reads the tissue’s DNA.
It then sequences its findings for 10 minutes and, after 30 minutes to an hour of analysis, produces a result.
The test was able to determine if the child was going to be born with a genetic disorder in each of the chorionic villi, amniotic fluid and tissue product of conception.
It was wrong on a biopsy sample, giving it a 98 percent accuracy rate on those specific samples.
Overall, STORK was able to accurately determine whether or not a genetic disorder would occur in 99.5 percent of cases.
Not only was it so effective, but the test could also spit out a result quickly.
It provided results within hours, while standard tests that require a lab to run could take several days.
These tests are also significantly cheaper. A typical genetic test could use a lot of equipment and several hours of work. These costs can add up to thousands.
A self-managed sample through STORK costs about $200 each, while a batch of 10 samples at a time will cost $500, or $50 per test.
Although this initial sample was small, if STORK proves to be a successful trial, it may change the process of screening and screening for genetic disorders.
Because of the lengthy and expensive process, this type of genetic testing is currently only limited to women who have had multiple miscarriages.
The Columbia team hopes that STORK can be offered to women who have had a miscarriage, expanding screening for these disorders before birth.
Frozen embryos can also be used for IVF. These eggs are usually screened in advance for markers that indicate a child born from them will have problems.
A test like STORK can streamline the process and even make IVF more accessible.