Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).

Grati FR, Bestetti I, De Siero D, et al.. Prenat Diagn. 2022;42(13):1575-1586. doi:10.1002/pd.6271.

Tags: Laboratory Performance / Laboratory Experience, 2022, Italy, RAAs

  • “Diagnostic test results were collected for 1327 women with a positive NIPT. The highest PPVs were for Trisomy (T) 21 (624/671, 93%) and XYY (26/27, 96.3%), while rare autosomal trisomies (9/47, 19.1%) and recurrent microdeletions (8/55, 14.5%) had the lowest PPVs.”
  • Prenatal diagnostic test results were collected by Italian laboratories between 2013 and March 2020 for 1327 women.
  • PPV for RATs was 19.1% (9/47). PPV for segmental imbalances >7 Mb was 24.1% (7/29).