The New York Times has reported that a new lab technique could mean that those needing prenatal screening and women who have miscarried may “no longer need to rely on centralised testing labs for results”
Researchers at Columbia University Fertility Center have developed a new test that can detect chromosomal abnormalities in an embryo or fetus much quicker than currently available technology, and at a fraction of the cost
Severe birth defects and miscarriages are often linked to extra or missing chromosomes that cause an abnormality. Now, researchers at Columbia University have developed a faster, cheaper way of screening for chromosomal abnormalities that takes less than two hours and costs $200. Currently, women often have to pay $1,000 to $2,000 each time.
The test, known as STORK (Short-read Transpore Rapid Karyotyping) could impact treatment for patients who have miscarried, are pregnant or are undergoing IVF
The new test, carried out using a palm-sized device has been developed over ten years by Dr Zev Williams, the Director of the Columbia University Fertility Centre, and his team of research and development scientists.
It involves the use of cells and tissues obtained from miscarriages and from previous prenatal screening procedures, and can be carried out in a doctor’s office, rather than being sent away to a lab. The technology used by the STORK test analyses DNA samples at 15,000 times the speed of current methods. This means that results are available within a couple of hours, rather than a couple of weeks.
The test needs validating but if it becomes widely available, it will help women understand why they experienced a miscarriage
It will also help those who require pre-natal testing as part of IVF procedures or via amniocentesis or chorionic villus sampling. The test will also benefit those living in States that have restricted access to abortion after 15 or 18 weeks of pregnancy, giving them longer to decide whether to keep a pregnancy that might be affected by a chromosome abnormality.
Dr Mark Hornstein, director of the division of reproductive endocrinology and infertility at Brigham and Women’s Hospital in Boston, told the New York Times that with the older testing method “Cultured cells sometimes die before they can be tested. It is very difficult to keep cells alive and not contaminated for three weeks. Not infrequently, we get no growth. We wait three weeks, and then the lab tells us, ‘You have no cells.’”
The new test will avoid these problems by using a DNA sequencing technique that’s much quicker. It will detect missing or extra chromosomes within a matter of hours. Test results from miscarriages can take weeks to get an answer, a painful time made much worse by waiting. The new method will see this particular struggle taken away.
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