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Purpose <p>To evaluate whether sequencing platforms affect genetic testing results and cumulative live birth rates (CLBR) in preimplantation genetic testing for aneuploidy (PGT-A) cycles.</p> Methods <p>This retrospective cohort study included 506 cycles with female age ≤ 40&#xa0;years old conducted at a single reproductive center. These cycles were divided into two groups (Platform A and Platform B) based on the sequencing platforms. Primary outcomes were CLBR. Secondary outcomes were genetic testing results.</p> Results <p>Platform A exhibited&#xa0;lower euploidy rates&#xa0;(49.46% vs. 55.75%;&#xa0;<i>P</i> = 0.007) and&#xa0;higher aneuploidy rates&#xa0;(36.92% vs. 30.73%;&#xa0;<i>P</i> = 0.005). The increased aneuploidy in Platform A was driven by a&#xa0;higher segmental aneuploidy (SA) rate&#xa0;(11.44% vs. 6.30%;&#xa0;<i>P</i> &lt; 0.001), whereas whole-chromosomal aneuploidy (WA) rates were similar (25.48% vs. 24.43%;&#xa0;<i>P</i> = 0.607). Platform A demonstrated a&#xa0;lower genetically transferable blastocysts (GTB) rate&#xa0;(53.68% vs. 61.80%;&#xa0;<i>P</i> &lt; 0.001) and higher&#xa0;cycle cancellation rate&#xa0;(21.65% vs. 11.86%; <i>P</i> = 0.003). Although CLBR per FET cycle&#xa0;was comparable (77.63% vs. 79.27%; <i>P</i> = 0.692),&#xa0;CLBR per biopsied cycle&#xa0;was significantly higher for Platform B (60.82% vs. 69.87%; <i>P</i> = 0.036). The subgroup analysis in &lt; 38&#xa0;years demonstrated consistent results. Multivariate regression confirmed that&#xa0;platform selection independently impacted CLBR (<i>R</i><sup><i>2</i></sup> = 0.267,&#xa0;<i>F</i> = 16.319,&#xa0;<i>P</i> = 0.012).</p> Conclusion <p>This study provides evidence that sequencing platform selection significantly influences PGT-A genetic testing results and clinical outcomes, as our analysis revealed substantial platform-dependent variability in SA detection rates and CLBR.</p>

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Sequencing platforms influence segmental aneuploidy and cumulative live birth rate: A single-center cohort study

  • 期刊论文

  • 发表日期：

    2025年11月22日

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  • Shun Xiong,
  • Jiang Wang,
  • Tao Fu,
  • Yezhou Xiang,
  • Xiu Luo,
  • Junxia Liu,
  • Guoning Huang,
  • Yang Gao,
  • Wei Han

摘要

Purpose

To evaluate whether sequencing platforms affect genetic testing results and cumulative live birth rates (CLBR) in preimplantation genetic testing for aneuploidy (PGT-A) cycles.

Methods

This retrospective cohort study included 506 cycles with female age ≤ 40 years old conducted at a single reproductive center. These cycles were divided into two groups (Platform A and Platform B) based on the sequencing platforms. Primary outcomes were CLBR. Secondary outcomes were genetic testing results.

Results

Platform A exhibited lower euploidy rates (49.46% vs. 55.75%; P = 0.007) and higher aneuploidy rates (36.92% vs. 30.73%; P = 0.005). The increased aneuploidy in Platform A was driven by a higher segmental aneuploidy (SA) rate (11.44% vs. 6.30%; P < 0.001), whereas whole-chromosomal aneuploidy (WA) rates were similar (25.48% vs. 24.43%; P = 0.607). Platform A demonstrated a lower genetically transferable blastocysts (GTB) rate (53.68% vs. 61.80%; P < 0.001) and higher cycle cancellation rate (21.65% vs. 11.86%; P = 0.003). Although CLBR per FET cycle was comparable (77.63% vs. 79.27%; P = 0.692), CLBR per biopsied cycle was significantly higher for Platform B (60.82% vs. 69.87%; P = 0.036). The subgroup analysis in < 38 years demonstrated consistent results. Multivariate regression confirmed that platform selection independently impacted CLBR (R2 = 0.267, F = 16.319, P = 0.012).

Conclusion

This study provides evidence that sequencing platform selection significantly influences PGT-A genetic testing results and clinical outcomes, as our analysis revealed substantial platform-dependent variability in SA detection rates and CLBR.