A new prenatal test developed by researchers at Columbia University Fertility Center can determine if a fetus or embryo has the right number of chromosomes at a fraction of the time and cost of currently available clinical genetic tests.
Currently available prenatal genetic tests cost thousands of dollars and take days to weeks to deliver results, adding to the emotional and financial stress of fertility treatment and pregnancy and impacting treatment options.
The new test, called STORK (Short-read Transpore Rapid Karyotyping), can be used in the doctor’s office at the point of care, delivers results in under two hours, and is about 10 times less expensive to process per sample than current tests.
Details about the test — which is awaiting authorization from New York State Department of Health before it can be offered to Columbia patients — and its performance were published in the New England Journal of Medicine.
“We are developing the most advanced technologies to solve some of the most ancient of afflictions — infertility and pregnancy loss,” says study leader Zev Williams, MD, PhD, the Wendy D. Havens Associate Professor of Women’s Health and chief of the division of Reproductive Endocrinology and Infertility at Columbia University Vagelos College of Physicians and Surgeons. “Our hope is that this test will help improve women’s health, lower costs, and improve access to treatment.”
The chromosomal abnormalities that this test can detect are, by far, the most common causes of miscarriage, structural anomalies, and developmental delays. Prenatal genetic testing is recommended for pregnant women who are age 35 or older, have a family history of genetic disorders, or have had one or more miscarriages. It is also used increasingly during in vitro fertilization (IVF) to test embryos prior to implantation to improve the chances of pregnancy and reduce the risk of miscarriage.
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