Increasing maternal age is not a significant cause of false-positive results for monosomy X in non-invasive prenatal testing.
Rhiannon Sandow, Fergus P Scott, Philip J Schluter, Daniel L Rolnik, Melody Menezes, Deborah Nisbet, Andrew C McLennan
Prenatal Diagnosis | John Wiley and Sons | Published : 2020
OBJECTIVE: The accuracy of cell-free DNA aneuploidy screening varies by the chromosome assessed. The positive predictive value is consistently low for monosomy X (MX), at less than 30%. This study aims to investigate maternal age and other possible predictors of false-positive MX screening results in order to guide pre-test and post-test counselling. METHODS: A total of 52 499 NIPT samples were tested over 69 months, across three specialist obstetric services. Outcome data were available for 96 out of 107 cases high risk for MX. Cytogenetic outcomes were compared to clinical and demographic data to look for trends that may indicate higher likelihood of a false-positive NIPT result. RESULTS: ..View full abstract