07Feb 2023
Screen‐positive rate in cell free DNA screening for microdeletion 22q11.2

Screen‐positive rate in cell free DNA screening for microdeletion 22q11.2

The study aims to examine the impact of the fetal fraction on the screen‐positive rate in screening for microdeletion 22q11.2. The overall screen‐positive rate was 0.59%. In the low-risk group, the fetal fraction was 10.1%, and in the high-risk group, it was 7.3%. Regression analysis indicated a strong correlation between the fetal fraction (FF) and the screen‐positive rate. In the cases with a FF of less than 11.0%, the screen‐positive rate was 0.92%, while it was 0.13% in the group with a higher FF. The study findings demonstrate that the screen‐positive rate depends on the fetal fraction. In order to keep the rate low, we recommend restricting the analysis to samples with a fetal fraction of 11% and more.

  • #gynaecology - ivf

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