Genetic testing to understanding the causes of miscarriage and failure of in vitro fertilization can be costly and such analysis can take several days before results are available. For this reason, many medical professionals only recommend genetic testing if a person has had multiple miscarriages, and IVF labs must freeze embryos to allow time for genetic testing to be performed. Now, a research group led by researchers from the Columbia University Fertility Center and Columbia University Irving Medical Center, and funded through the National Institutes of Health’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), has developed a more affordable genetic test that can detect fetal chromosome abnormalities with same-day results in both prenatal samples and biopsies.
The Short-read Transpore Rapid Karyotyping (STORK) test can detect extra or missing chromosomes, also known as aneuploidy, from amniocentesis and chorionic villus sampling, as well from miscarriage and trophectoderm biopsies. The test is based on rapid nanopore sequencing, in which an electric current drives single-stranded DNA through protein nanopores and voltage changes are measured as each nucleotide passes through. This rapid method reduces the time for results to just hours instead of days, and the team estimates the cost of running samples will be about $200 for a single sample, or less than $50 per sample if 10 samples are run in parallel.
The team compared STORK to standard methods by testing 218 samples from prenatal tests, miscarriage biopsies and tropectoderm biopsies, and found that STORK had an accuracy of 98-100%. Another set of 60 samples were tested by technicians at a CLIA-certified clinical laboratory, where the STORK was found to be 100% in accordance with standard clinical testing. The test could be performed at the point-of-care, eliminating the need to ship a sample to a separate laboratory, and could be helpful in identifying the causes of miscarriage after a first miscarriage due to its speed and cost-effectiveness, the researchers said. Additionally, STORK could provide added efficiency to IVF labs by accelerating genetic testing, reducing the need to freeze embryos for long periods of time. This research was published in The New England Journal of Medicine.
The research was supported through the NICHD’s Human Placenta Project, with additional NIH funding from the National Cancer Institute. The team noted that while more work is still needed to validate STORK, if it continues to show promise, it could be used to improve the quality of reproductive healthcare.