Researchers funded by the National Institutes of Health (NIH) have developed a new test, known as the Short-read Transpore Rapid Karyotyping (STORK) test, for the detection of abnormal fetal chromosomes.
The same-day test can also identify extra or missing chromosomes, such as aneuploidy, using samples collected from prenatal tests, including amniocentesis and chorionic villus sampling.
It can also use tissue from miscarriages or biopsies from pre-implantation embryos that have been produced during in vitro fertilisation (IVF).
The STORK test was compared with standard approaches by evaluating 218 samples, including tissue from amniotic fluid, miscarriage, chorionic villi and trophectoderm biopsies, which are used for embryo assessment prior to implantation during IVF treatment.
The test showed 98% to 100% accuracy in these sample sets.
Technicians from a clinical laboratory with a Clinical Laboratory Improvement Amendments certification for quality testing tested the STORK test in another set of 60 samples.
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In these sample sets, the new test demonstrated 100% accuracy according to the standard clinical testing.
Overall, the study demonstrated that the STORK test is comparable to standard clinical tests and also has several advantages.
The test is said to be quick and cost-effective, providing results within hours.
It can also be performed at the point of care and eliminates the need to ship samples to a clinical lab.
The study authors noted that the STORK test could mainly be used to detect genetic causes of miscarriage. It could also be used to streamline the IVF process.
The study received support through the Human Placenta Project from the NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).