Diagnostic study demonstrates that combining triSure and NIPTeR algorithms identifies maternal mosaicism in prenatal screening, indicating a strategy to reduce fetal monosomy X false positives.
What's already known about this topic? The false positive rate of detecting monosomy X by NIPT is higher than that of other autosomal aneuploidies, due in part to maternal mosaic monosomy X. What does this study add? Our triSure method is less sensitive to the confounding effect of maternal DNA than NIPTeR method. By combining z ‐scores of chrX from triSure and NIPTeR, we can detect cases of fetal XX (−2.5 < z X by triSure < 2.5) with maternal mosaicism monosomy X (z X by NIPTeR < −2.5), potentially reducing false positive rate of fetal monosomy X.
No takes yet. Share an insight, caveat, or question.
Phan et al. (2019) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: