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Article

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

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology - 1 Oct 2021

Bevilacqua E, Jani J C, Chaoui R, Suk E-K A, Palma-Dias R, Ko T-M, Warsof S, Stokowski R, Jones K J, Grati F R, Schmid M

Abstract excerpt

OBJECTIVE: 22q11.2 deletion is more common than trisomies 18 and 13 combined, yet no routine approach to prenatal screening for this microdeletion has been established. This study evaluated the clinical sensitivity and specificity of a targeted cell-free DNA (cfDNA) test to screen for fetal 22q11.2 deletion in a large cohort, using blinded analysis of prospectively enrolled pregnancies and stored clinical...

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Identifiers

PMID: 34090308
DOI: 10.1002/uog.23699
PMCID: PMC8518527

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