Raymond YC, Fernando S, Menezes M, et al. Prenat Diagn. 2022;42(11):1349-1357. doi:10.1002/pd.6233. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2022, Australia, RAAs, CNVs
- “Among 23,857 women screened, there were 93 high-risk results for RATs (0.39%) and 82 for SIs [structural imbalances] (0.34%). The PPVs were 3.8% (3/78, 95% CI 0.8%-10.8%) for RATs and 19.1% (13/68, 95% CI 10.6%-30.5%) for SIs. If fetuses with structural anomalies were also counted as true-positive cases, the PPV for RATS increased to 8.5% (7/82, 95% CI 3.5%-16.8%). Among 85 discordant cases with birth outcomes available (65.4%), discordant positive RATs had a significantly higher proportion of infants born below the 10th and 3rd birthweight percentiles than expected (19.6% (p = 0.022) and 9.8% (p = 0.004), respectively), which was not observed in the SI group (2.9% < 10th (p = 0.168) and 0.0% <3rd (p = 0.305)).”