Cell-free DNA test for pathogenic copy number variations: A retrospective study.

Duan HL, Li J, Wang WJ, et al. Taiwan J Obstet Gynecol. 2021;60(6):1066-1071. doi:10.1016/j.tjog.2021.09.018. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2021, Taiwan, CNVs

  • Retrospective study of 29 pregnancies with prenatal diagnosis of fetal microdeletion/microduplication syndromes by CMA.
  • 24 CNVs were identified by NIPT among the 21 fetuses with pathogenic CNVs, including 20 concordant CNVs and 21 discordant CNVs. Overall detection rate of NIPT for pathogenic CNVs >2 Mb was 69%.
  • “Conclusion: Cell-free DNA test exhibited a moderate DR for pathogenic CNVs >2 Mb among fetuses with ultrasound abnormalities. Cell-free DNA test could provide an opportunity for early screening before the appearance of abnormalities on fetal ultrasound, while further clinical data and cost-effectiveness assessment are needed.”