Pregnancy outcomes of rare autosomal trisomies results in non-invasive prenatal screening: clinical follow-up data from a single tertiary centre.

ABSTRACT: This study was performed to assess the association between detection of rare autosomal trisomies (RATs) by non-invasive prenatal screening (NIPS) and adverse pregnancy outcomes. We retrospectively analyzed women with high-risk RATs results from January 2014 to December 2020. The women's clinical information was collected, and their pregnancy outcomes were compared with those of women with low-risk results. In total, 151 (0.24%) RATs results were reported among 62,752 NIPS examinations. Sixty-five women chose to undergo amniocentesis for confirmation, which revealed 3 cases of true fetal mosaicism for RATs and a positive predictive value of 4.6% (3/65). Among the 139 women with available outcomes, 26 (18.7%) had a preterm birth, 10 (7.2%) underwent pregnancy termination because of fetal def

SUBMITTER: Lin Y 

PROVIDER: S-EPMC8995450 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature