Rate of no result in cell‐free DNA testing and its influence on test performance metrics

What is it about?

In prenatal screening for trisomy 21 based on cell free DNA, the proportion of cases with no test result, the reason for test failure and the management of these cases determine the overall test performance. Although tests that measure the fetal fraction provide a quality metric about the detection and false positive rate of each individual test result, the management of the cases with no test result, either for low fetal fraction or for technical reasons, remains challenging and determines the overall test performance.

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