Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletions in a large clinical cohort

CONCLUSIONS: This is a large-scale prospective clinical evaluation of the sensitivity and specificity of a targeted cfDNA test for fetal 22q11.2 deletions. Results demonstrate that this targeted cfDNA test can detect common and smaller, nested 22q11.2 deletions with a low (0-0.5%) false positive rate. Although the PPV observed in this study population was 100%, the expected PPV in the general pregnancy population can be calculated as 12.2% using 99.5% specificity and 41.1% at 99.9% specificity. Use of this cfDNA test to screen for 22q11.2 deletions could enhance identification of pregnancies at-risk for 22q11.2 deletion syndrome without significantly increasing the likelihood of maternal anxiety and unnecessary invasive procedures related to false positive results. This article is protected by copyright. All rights reserved.PMID:34090308 | DOI:10.1002/uog.23699

Source: The Ultrasound Review of Obstetrics and Gynecology - June 5, 2021 Category: Radiology Authors: E Bevilacqua J Jani R Chaoui E-K A Suk R Palma-Dias T-M Ko S Warsof R Stokowski K J Jones F R Grati M Schmid Source Type: research