Doctors just developed the most accurate test yet for Down's syndrome
British doctors have discovered a new procedure to test for Down's syndrome in pregnancies that is far more accurate than conventional testing, The Guardian reported Wednesday. One doctor involved in the study, which uses advanced DNA analysis to detect abnormalities, called it "transformational."
In the 14-month-long study, the new procedure, called reflex DNA screening, had a 95 percent detection rate for Down's syndrome and two other rare genetic disorders, compared to 81 percent with conventional testing. Like conventional testing, reflex DNA testing uses a combination of a blood test, an ultrasound scan, and the mother's age to first determine the risk of a given pregnancy.
But where conventional testing offers mothers an amniocentesis test, which uses a needle to draw fluid from the womb, reflex DNA testing uses blood that has already been drawn from the mother and analyzes its DNA to look for possible genetic disorders if pregnancy risk passes a certain threshold. Five maternity wards of the National Health Service participated in the study, and reflex DNA testing produced 100 times fewer false positive diagnoses than conventional testing, in addition to preventing 530 invasive tests.
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Last year, The Guardian reported that the NHS will offer non-invasive prenatal testing for genetic disorders like Down's starting in 2018. Read more about the new testing method at The Guardian.
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Kelly O'Meara Morales is a staff writer at The Week. He graduated from Sarah Lawrence College and studied Middle Eastern history and nonfiction writing amongst other esoteric subjects. When not compulsively checking Twitter, he writes and records music, subsists on tacos, and watches basketball.
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