Sequential Screening Provides Better Test Performance than Cell Free DNA

In a study to be presented on Feb. 5 2015 in an oral plenary session at 8 a.m. PST, at the Society for Maternal-Fetal Medicine’s annual meeting, The Pregnancy Meeting™, in San Diego, researchers will report that cell free DNA analysis is less effective than sequential screening as primary testing for fetal chromosomal abnormalities.

The study, titled Cell free DNA Analysis vs. Sequential Screening as Primary Testing Considering Chromosomal Abnormalities, compared sequential screening to cell free DNA for detection of all fetal chromosomal abnormalities in a general prenatal cohort.

The study discusses some of the complexities of cell free DNA screening when implemented in large populations. Although cell free DNA can very precisely detect Down syndrome and a few other serious chromosome abnormalities (as well as fetal sex), there are two limitations that are important. One is that cell free DNA screens for a very limited panel of abnormalities, as compared to current screening, which is able to determine that there is an increase in risk in the presence of a very broad array of fetal abnormalities, including many different chromosome problems in addition to the common conditions.

Read more: Study Finds Sequential Screening Provides Better Test Performance than Cell Free DNA When Considering all Fetal Chromosomal Abnormalities

Source: Illumina