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

Bevilacqua E;Jani J;Chaoui R;Suk EA;Palma-Dias R;Ko TM;Warsof S;Stokowski R;Jones KJ;Grati FR;Schmid M;;
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021 pp. -
182
e2021ultrasoundperformance

Abstract

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 t …

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National Center for Biotechnology Information NCBI NLM MEDLINE pubmed abstract nih national institutes of health national library of medicine pmid:34090308 doi:10.1002/uog.23699 e bevilacqua j jani m schmid

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