Cytogenetic outcomes following a failed cell-free DNA screen: a population-based retrospective cohort study of 35,146 singleton pregnancies.

The main goal of this study was to assess the association between a failed cell-free DNA test and common aneuploidies. The study showed that cell-free DNA screening test failures are relatively common. Although repeat testing improves the likelihood of an informative result, pregnancies with a failed cell-free DNA screen upon first attempt remain at increased risk for common autosomal aneuploidies, but not sex chromosome aneuploidies.

AJOG 2023. DOI: 10.1016/j.ajog.2023.01.007