National Institutes of Health (NIH)-funded researchers have developed a same-day test for the detection of abnormal fetal chromosomes.
The Short-read Transpore Rapid Karyotyping (STORK) test intends to identify the cause of miscarriage and improves in vitro fertilisation process.
It can detect excess or missing chromosomes (i.e., aneuploidy) using tissue from miscarriages and biopsies from pre-implantation embryos created by in vitro fertilisation (IVF).
Additionally, it can identify chromosomes from samples obtained by prenatal testing like amniocentesis and chorionic villus sampling.
It is funded by the Human Placenta Project at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) of NIH.
The team compared STORK to conventional procedures by analysing 218 samples, including miscarriage tissue, chorionic villi, amniotic fluid, and trophectoderm biopsies.
In this sample set, STORK’s accuracy ranged from 98% to 100%.
On a different set of 60 samples, which was performed in a clinical laboratory with a Clinical Laboratory Improvement Amendments certification, STORK was 100% in compliance with standard clinical testing.
Overall, the study demonstrated that STORK is advantageous and equivalent to traditional clinical examinations.
STORK produces results in a matter of hours rather than days and will cost less than $50 per sample if 10 samples are run simultaneously or up to $200 if a sample is performed alone.
A patient can receive STORK at the point of care rather than having to send a sample to a clinical laboratory.
Currently, professional societies advise genetic testing if a woman has experienced numerous losses, but a simple, affordable test like STORK may possibly be made available after the first miscarriage.
The IVF procedure can also be streamlined with STORK because it eliminates the freezing step due to STORK’s speedy results, which saves time and money.
Although further research is required to confirm STORK, if early results hold true, it may raise the standard of reproductive healthcare, said NIH.
