Researchers at Columbia University have developed a fast read test that can accurately detect whether a fetus has extra or missing chromosomes. The Short read Transpore Rapid Karyotyping or STORK is able to detect cystic fibrosis, sickle cell disease and fragile X syndrome to name a few. A study was done on 278 samples that produced an accuracy rate of 99.5%. The test costs as little as $50 to run and the results are returned within hours. It’s a marked change from current genetic testing, which usually takes days to complete and costs expectant parents an enormous amount of money.
Embryos now have to be frozen while genetic tests are run and analyzed before implantation. STORK’s ability to provide results within hours can presumably eliminate this freezing step, which saves time and cost. The results for accuracy were corroborated by a CLIA certified lab and were found to be 99.5% too. The results reported by NIH proclaimed that the test had the potential to markedly improve the quality of reproductive healthcare.