New test can find whether an unborn child will have a genetic disorder with near 100% accuracy

A new test can tell pregnant women whether their unborn child will suffer a genetic problem – and can do so much faster and cheaper than currently available tests.

Short-read transporter rapid karyotyping (STORK) uses samples collected from an unborn fetus to determine whether it has extra or missing chromosomes. While such tests already exist, they are often very expensive and results can take several days.

This test, developed by researchers at Columbia University in New York City, could instead provide results within 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 this type of assessment.

The researchers hope that 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 may also allow for rapid testing of embryos used in the in vitro fertilization (IVF) process.

The research team, which published their findings Thursday in the New England Journal of Medicine, tested their device on 218 samples.

Of that group, 63 had indicators that predicted that the child would eventually be born with some sort of genetic disorder.

These include conditions such as cystic fibrosis, Fragile X syndrome, sickle cell disease, and others.

The samples also came from a variety of tissues: including chorionic villi—small sections of placental tissue, the amniotic fluid that surrounds an unborn fetus, and products of conception.

They also collected tissue from trophectoderm biopsies, the type of tissue commonly tested for genetic disorders.

It works by first taking a tissue sample and sending it through a ‘short-read preparation’ phase, which takes about 45 minutes. This is where it reads the DNA of the tissue.

It then indexes its findings for 10 minutes, and generates results after 30 minutes to an hour of analysis.

The test was able to tell whether the baby was going to be born with a genetic disorder on each of the chorionic villi, the product of amniotic fluid and conception tissue.

It was inaccurate on one sample collected by biopsy – giving it a 98 percent accuracy rate on those specific samples.

Overall, STORK was able to accurately determine whether a genetic disorder would occur in 99.5 percent of cases.

Not only was it not so effective, but the test could have resulted in quicker results.

It provided results within hours, while standard tests that require a lab to run can take several days.

These tests are also quite cheap. A typical genetic test can use a lot of equipment and many man-hours. These costs can add up to the thousands.

A single sample run through STORK costs about $200 each, while a batch of 10 samples at a time will cost $500 – or $50 per test.

While this initial sample was small, if STORK proves to be a successful test it could change the process of scanning and detecting for genetic disorders.

Because of how lengthy and expensive the procedure is, these types of genetic testing are currently limited to women who have experienced multiple miscarriages.

The Columbia team hopes that STORK can be given to women who have experienced a miscarriage, expanding screening for these disorders to preterm birth.

It can also be used for IVF frozen embryos. These eggs are usually tested in advance to see if they have markers indicating that the baby born from them will face problems.

A test like STORK can streamline the process and even make IVF more accessible.