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Background <p>Expanded carrier screening (ECS) is increasingly used in reproductive medicine, but real-world evidence on reproductive decision-making and clinical outcomes remains limited. This study evaluated the genetic spectrum, identification of at-risk couples (ARCs), reproductive decisions, and early clinical outcomes in a reproductive medicine setting.</p> Methods <p>This retrospective single-center study included 3878 individuals who underwent targeted 20-gene ECS between December 2024 and January 2026. Carrier frequencies, ARC rates, and reproductive decisions were analyzed. Clinical follow-up of ARCs identified on or before January 12, 2026 was updated through June 28, 2026.</p> Results <p>Among 3878 individuals, 2173 (56.0%) carried at least one pathogenic or likely pathogenic variant. Of 1443 couples, 148 (10.3%) were identified as ARCs. <i>GJB2</i> accounted for 62.8% of ARCs, with c.109G&gt;A (p.V37I) being the most common variant. Among ARCs, 133 (89.9%) accepted genetic counseling and 15 (10.1%) declined. By the end of follow-up, 90 couples (60.8%) had entered an IVF/ICSI/PGT-M treatment cycle, including 24 (16.2%) undergoing PGT-M. Overall, 67 couples (45.3%) achieved clinical pregnancy and 13 (8.8%) had live births. No congenital abnormalities or clinically apparent monogenic disorders were identified among the live-born infants.</p> Conclusions <p>Targeted ECS identified a substantial proportion of at-risk couples and revealed considerable variability in reproductive decision-making following genetic counseling. The findings highlight the importance of individualized counseling and variant-specific interpretation, particularly for <i>GJB2</i> c.109G&gt;A (p.V37I). Continued longitudinal follow-up is needed to evaluate long-term clinical outcomes.</p>

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Targeted expanded carrier screening in a reproductive medicine setting: real-world genetic spectrum and reproductive decision-making among at-risk couples

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月29日

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  • Hongyan Li,
  • Yue Lin,
  • Jiangyuan Wang,
  • Yaqin Wu,
  • Yucheng Zhong,
  • Hao Deng,
  • Meiqiong Yang,
  • Xiaohang Li,
  • Mengxun Chen,
  • Qianru Liu,
  • Xutao Hong,
  • Ge Song

摘要

Background

Expanded carrier screening (ECS) is increasingly used in reproductive medicine, but real-world evidence on reproductive decision-making and clinical outcomes remains limited. This study evaluated the genetic spectrum, identification of at-risk couples (ARCs), reproductive decisions, and early clinical outcomes in a reproductive medicine setting.

Methods

This retrospective single-center study included 3878 individuals who underwent targeted 20-gene ECS between December 2024 and January 2026. Carrier frequencies, ARC rates, and reproductive decisions were analyzed. Clinical follow-up of ARCs identified on or before January 12, 2026 was updated through June 28, 2026.

Results

Among 3878 individuals, 2173 (56.0%) carried at least one pathogenic or likely pathogenic variant. Of 1443 couples, 148 (10.3%) were identified as ARCs. GJB2 accounted for 62.8% of ARCs, with c.109G>A (p.V37I) being the most common variant. Among ARCs, 133 (89.9%) accepted genetic counseling and 15 (10.1%) declined. By the end of follow-up, 90 couples (60.8%) had entered an IVF/ICSI/PGT-M treatment cycle, including 24 (16.2%) undergoing PGT-M. Overall, 67 couples (45.3%) achieved clinical pregnancy and 13 (8.8%) had live births. No congenital abnormalities or clinically apparent monogenic disorders were identified among the live-born infants.

Conclusions

Targeted ECS identified a substantial proportion of at-risk couples and revealed considerable variability in reproductive decision-making following genetic counseling. The findings highlight the importance of individualized counseling and variant-specific interpretation, particularly for GJB2 c.109G>A (p.V37I). Continued longitudinal follow-up is needed to evaluate long-term clinical outcomes.