Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?

Mardy AH, Norton ME. Prenat Diagn. 2021;41(10):1249-1254. doi:10.1002/pd.6021.

Tags: Review / Meta-Analysis, 2021, International, RAAs

  • Review of the literature to provide recommendations on chorionic villus sampling (CVS) versus amniocentesis after a positive NIPT result for autosomal aneuploidies, monosomy X, and multiple aneuploidies.
  • “Conclusion: Clinicians should consider rates of CPM, imprinting, ultrasound findings and maternal factors when considering whether to recommend amnio or CVS after an abnormal cfDNA result.”