All Stories

  1. Genome-wide non-invasive prenatal screening for all cytogenetically visible imbalances
  2. Comment on “The clinical utility of genome-wide non invasive prenatal screening”
  3. Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies
  4. Rate of no result in cell-free DNA testing and its influence on test performance metrics
  5. Frequency of fetal karyotype abnormalities in women undergoing invasive testing in the absence of ultrasound and other high-risk indications
  6. Implications of fetoplacental mosaicism on cell-free DNA testing: a review of a common biological phenomenon
  7. Unexpected results of non-invasive prenatal testing: are they all so unexpected?
  8. The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure
  9. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
  10. Increased risk after noninvasive prenatal screening on cell-free DNA circulating in maternal blood: does a new indication for invasive prenatal diagnosis require new criteria for confirmatory cytogenetic analysis?
  11. Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome