Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio
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The authors aimed to characterize rare autosomal trisomies (RATs) detected through genome-wide noninvasive prenatal testing (GW-NIPT) and assess their clinical significance, particularly regarding adverse pregnancy outcomes. They found that while RATs-positive results indicated a meaningful risk, the positive predictive value for fetal confirmation was low, and the theoretical mosaicism ratio (TMR) showed poor discrimination for adverse outcomes, suggesting it should be used in conjunction with other clinical findings rather than as a standalone metric.
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