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Purpose <p>This study systematically evaluates the impact of preimplantation genetic diagnosis (PGD) versus natural conception (NC) on per-attempt and cumulative live birth rates for chromosomal translocation carriers. It aims to differentiate PGD’s role as an efficiency tool versus an efficacy modifier, examining translocation type and patient history as key prognostic factors.</p> Methods <p>A systematic search of seven databases up to July 2025 was conducted. A meta-analysis using a random-effects model was performed to separately pool the per-attempt live birth rate (LBR) and cumulative live birth rate (CLBR). Subgroup analyses and meta-regression were used to explore heterogeneity and prognostic factors.</p> Results <p>49 studies involving 7,026 couples were included. The pooled LBR for PGD was significantly higher than for NC (32.0% vs. 18.5%; OR = 2.28, <i>p</i> &lt; 0.0001). However, the CLBR for PGD (36.0%) was not significantly different from the good-prognosis NC group (36.6%). Robertsonian translocation carriers had significantly higher normal/balanced embryo rates than reciprocal carriers (38.3% vs. 22.5%, <i>p</i> = 0.000268).</p> Conclusion <p>PGD significantly improves the short-term efficiency of achieving a live birth for translocation carriers but may not alter long-term efficacy. Translocation type is a key predictor of PGD success, while carrier sex is not. Clinical guidance should be personalized based on patient goals for time-to-pregnancy.</p>

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Efficiency versus efficacy: a systematic review and meta-analysis of preimplantation genetic diagnosis versus natural conception for carriers of chromosomal translocations

  • 期刊论文

  • 发表日期：

    2025年11月13日

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  • Hongyang Du,
  • Qian Liu,
  • Jinjin Fu,
  • Yongqiang Ye,
  • Shuyu Wang

摘要

Purpose

This study systematically evaluates the impact of preimplantation genetic diagnosis (PGD) versus natural conception (NC) on per-attempt and cumulative live birth rates for chromosomal translocation carriers. It aims to differentiate PGD’s role as an efficiency tool versus an efficacy modifier, examining translocation type and patient history as key prognostic factors.

Methods

A systematic search of seven databases up to July 2025 was conducted. A meta-analysis using a random-effects model was performed to separately pool the per-attempt live birth rate (LBR) and cumulative live birth rate (CLBR). Subgroup analyses and meta-regression were used to explore heterogeneity and prognostic factors.

Results

49 studies involving 7,026 couples were included. The pooled LBR for PGD was significantly higher than for NC (32.0% vs. 18.5%; OR = 2.28, p < 0.0001). However, the CLBR for PGD (36.0%) was not significantly different from the good-prognosis NC group (36.6%). Robertsonian translocation carriers had significantly higher normal/balanced embryo rates than reciprocal carriers (38.3% vs. 22.5%, p = 0.000268).

Conclusion

PGD significantly improves the short-term efficiency of achieving a live birth for translocation carriers but may not alter long-term efficacy. Translocation type is a key predictor of PGD success, while carrier sex is not. Clinical guidance should be personalized based on patient goals for time-to-pregnancy.