Publications by authors named "Thanh-Thanh Thi Nguyen"

Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions.

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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.
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  • Vietnam has a significant thalassemia issue, with a study of 5,880 pregnant women revealing a 13.13% carrier frequency for thalassemia.
  • The breakdown of carriers included 7.82% for α-thalassemia and 5.31% for β-thalassemia, with common mutations identified in both types.
  • The study highlights the effectiveness of combining next-generation sequencing with gap-PCR for comprehensive thalassemia screening, estimating that around 5,021 babies could be born with severe thalassemia in Vietnam each year.
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  • Population-specific profiling of cancer gene mutations is essential for better understanding cancer biology and improving diagnostics and treatment tailored to specific groups.
  • The study used ultra-deep massive parallel sequencing of plasma cell-free DNA (cfDNA) to analyze mutations in 265 Vietnamese patients with advanced non-small cell lung cancer, offering a less invasive alternative to traditional tumor tissue analysis.
  • Although cfDNA testing had lower mutation detection rates, it still identified major mutations in key driver genes that were consistent with findings from tissue sample analysis, highlighting its potential for large-scale genetic profiling in populations with limited access to tumor biopsies.
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