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Non-invasive first trimester blood test reliably detects Down's syndrome

Date:
February 3, 2015
Source:
Wiley
Summary:
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), researchers report.
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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.


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Materials provided by Wiley. Note: Content may be edited for style and length.


Journal Reference:

  1. M. M. Gil, M. S. Quezada, R. Revello, R. Akolekar, K. H. Nicolaides. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound in Obstetrics & Gynecology, 2015; DOI: 10.1002/uog.14791

Cite This Page:

Wiley. "Non-invasive first trimester blood test reliably detects Down's syndrome." ScienceDaily. ScienceDaily, 3 February 2015. <www.sciencedaily.com/releases/2015/02/150203104110.htm>.
Wiley. (2015, February 3). Non-invasive first trimester blood test reliably detects Down's syndrome. ScienceDaily. Retrieved May 27, 2017 from www.sciencedaily.com/releases/2015/02/150203104110.htm
Wiley. "Non-invasive first trimester blood test reliably detects Down's syndrome." ScienceDaily. www.sciencedaily.com/releases/2015/02/150203104110.htm (accessed May 27, 2017).

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