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

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

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.

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).

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.