AI Article Synopsis
- The study aimed to assess the prevalence of maternal mosaic monosomy X (MMXO) among pregnant women in Vietnam using noninvasive prenatal screening methods.
- Out of over 105,000 women analyzed, 295 were suspected of having MMXO, with further testing confirming 125 cases, resulting in a confirmed prevalence of 0.118%.
- The results indicate that MMXO significantly affects chromosome X measurements, leading to many false positives when using size-based methods, while the count-based method is better for accurate results.
Article Abstract
Objective: To demonstrate the prevalence of maternal mosaic monosomy X (MMXO) in a cohort of pregnant women in Vietnam.
Methods: All 105,594 singleton pregnant women undergoing noninvasive prenatal screening (NIPS) between January 2019 and February 2021 in Vietnam were analyzed by measuring discordance between size- and count-based z-scores for chromosome X (ChrX) to identify suspected cases of MMXO and validated by fluorescence hybridization (FISH) on maternal blood.
Results: We identified 295 (0.279%) suspected MMXO cases. After FISH analysis, MMXO was confirmed in 125 cases (42.37%), revealing the MMXO prevalence of 0.118% (95% CI: 0.097-0.139%) in this cohort.
Conclusion: We found a relatively high prevalence of MMXO in Vietnamese pregnant women and demonstrated a strong influence of MMXO on the ChrX z-score using a count-based method, resulting in false positives. The size-based method is not sensitive to MMXO and therefore achieves higher PPV.
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| http://dx.doi.org/10.1080/14767058.2022.2155044 | DOI Listing |
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