Placental cytogenetic testing for confined placental mosaicism and obstetrical outcomes after discordant cell-free DNA screening results

Abstract

BACKGROUNDA false-positive cell-free DNA prenatal screening result may arise from confined placental mosaicism, however, the frequency and obstetrical ramifications of such cases are poorly understood.OBJECTIVEThis study aimed to assess the prevalence of confined placental mosaicism among pregnancies with false-positive cell-free DNA results and the associated obstetrical outcomes.STUDY DESIGNThis was a prospective, matched-cohort study with a 1:2 ratio of cases with false-positive cell-free DNA results and controls with low-risk cell-free DNA results that were matched by maternal age and body mass index. Participants were recruited between November 2022 and March 2025 at Monash Health and M..