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A test that analyzes fetal DNA found in a pregnant woman’s blood proved much more accurate in screening for Down syndrome and another chromosomal disorder than the now-standard blood test, a new study has found. The promising results may change how prenatal screening for genetic diseases is done, though the test is costly and generally not yet covered by insurance for women at low risk.
The study, published on Wednesday in The New England Journal of Medicine, found that the fetal DNA test was 10 times better in predicting cases of Down syndrome than the standard blood test and ultrasound screening, and five times better in predicting the other disorder, Trisomy 18. It also greatly reduced the number of false-positive results.
It could prevent many women who would otherwise get the standard blood test from needing to confirm positive results with invasive tests like amniocentesis or chorionic villus sampling, which can be stressful, much more costly and carry small risks of miscarriage. “Nine out of 10 women who are currently being referred for further testing would not need invasive...
The study, published on Wednesday in The New England Journal of Medicine, found that the fetal DNA test was 10 times better in predicting cases of Down syndrome than the standard blood test and ultrasound screening, and five times better in predicting the other disorder, Trisomy 18. It also greatly reduced the number of false-positive results.
It could prevent many women who would otherwise get the standard blood test from needing to confirm positive results with invasive tests like amniocentesis or chorionic villus sampling, which can be stressful, much more costly and carry small risks of miscarriage. “Nine out of 10 women who are currently being referred for further testing would not need invasive...
