Cell-free fetal DNA testing more effective in detecting Down syndrome

Cell-free fetal DNA testing, which measures the relative amount of free fetal DNA in a pregnant woman's blood, is a new screening test that indicates the risk of Down syndrome (trisomy 21), Edward syndrome (trisomy 18), and Patau syndrome (trisomy 13). A recent analysis of 37 published studies shows that the test can detect more than 99% of Down syndrome cases in singleton pregnancies, with a very low false positive rate of less than 0.1%. This makes it superior to all other testing methods.

The test is much less accurate for Edward syndrome and Patau syndrome, however, with respective detection rates of about 96% and 92% and a false positive rate of 0.26%. The analysis is published in Ultrasound in Obstetrics & Gynecology.



  1. Oksana Hlyva Oksana Hlyva Canada says:

    Please be sensitive and considerate in your portrayals of Down syndrome. There are much more "scary" things and conditions than Down syndrome. Also, dear researchers perhaps it's good time to focus some intellectual energy on research benefiting those who live with Down syndrome instead of virtually exclusively preoccupy people's minds with ways of  eradicating this "scary" in your words condition. Remember the hippocratic oath?

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