A new test that can detect chromosomal abnormalities and deliver results the same day has been developed by scientists with the support of the National Institutes of Health (NIH). The test has been called the Short-read Transpore Rapid Karyotyping (STORK) test and it provides results in a couple of hours rather than days or even weeks. An added advantage of the STORK test is that it can be also performed at the point-of-care.

Amniotic fluid sampled during amniocentesis or chorionic villus sampling or biopsies from pre-implantation embryos or tissue obtained from abortions can be used to detect aneuploidy (extra or missing chromosomes). It is also cost-effective with an estimated cost of $200 for a single sample or  less than $50 per sample if 10 samples are tested simultaneously. The sequencing time is 10 minutes. The test exhibited an accuracy of 98-100% when it was compared with standard methods in 218 samples indicating that it is comparable to standard tests.

This test may have many potential clinical applications. It may find use in identifying the genetic causes of abortion. And not just women with recurrent miscarriages, but those who have suffered a single miscarriage can also be offered this test as it is easy to do and results are obtained rapidly. It is hoped that with the use of this test in the IVF process, the need for freezing embryos while genetic tests are being done can be eliminated.

Sources

1. National Institutes of Health (NIH), August 17, 2022.
2. Prenatal test can cut time, cost of finding chromosomal abnormalities - Medscape - Aug 19, 2022.