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

Matthew A ShearKate SwansonRia GargAngie C JelinJohn BoscardinMary E NortonTeresa N Sparks
Published in: Prenatal diagnosis (2023)
This analysis suggests 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 generalizability to average risk pregnancies. This article is protected by copyright. All rights reserved.
Keyphrases
  • preterm birth
  • gene expression
  • pregnant women
  • dna methylation
  • genome wide