A systematic review and meta-analysis of cell-free DNA testing for detection of fetal sex chromosome aneuploidy.

Matthew A Shear Kate SwansonRia GargAngie C JelinJohn BoscardinMary E NortonTeresa N Sparks

Published in: Prenatal diagnosis (2023)

This analysis suggests that cfDNA is a reliable screening test for SCA, though both false negatives and false positives were reported. These estimates of test performance are derived from pregnancies at high pretest risk for aneuploidy, limiting the generalisability to average risk pregnancies.

Keyphrases

preterm birth
gestational age
gene expression
copy number
quantum dots
data analysis