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16周前圆锥动脉干畸形的产前诊断：纵向演变、遗传发现与早期预后标志物

Prenatal Diagnosis of Conotruncal Anomalies Before 16 Weeks: Longitudinal Evolution, Genetic Findings and Early Prognostic Markers.
PubMed 文献 · Prenat Diagn · 2026-05-15

本研究回顾性纳入2018至2024年间16周前诊断的101例圆锥动脉干畸形（CTA）胎儿，仅纳入产后或尸检确认病例。28.6%的病例出现病变进展，进展与非进展表型的早期大动脉生物测量存在差异，13例检出遗传学异常。早期大动脉直径评估可能有助于识别进展高风险病例。

要点

  • 16周前诊断的CTA中约28.6%出现产前病变进展。
  • 进展与非进展表型的早期大动脉生物测量存在差异。
  • 13例检出遗传学异常，其中8例非孤立性、5例孤立性。

核心结论

  • 16周前诊断的CTA是动态病变，约四分之一病例出现产前进展。
  • 早期大动脉直径评估可能有助于识别进展高风险病例。

研究设计与样本

  • 回顾性队列研究，纳入2018至2024年间16周前诊断的CTA胎儿，仅纳入产后或尸检确认病例，共101例符合纳入标准。

主要发现

  • 101例中31例选择终止妊娠，70例继续妊娠中发生宫内死亡和产后死亡共4例。
  • 28.6%的病例观察到病变进展。
  • 进展与非进展表型的早期大动脉生物测量存在差异。
  • 13例检出遗传学异常，包括8例非孤立性和5例孤立性病例。

关键数值与推荐

  • 进展定义为需要修正初始诊断的形态学改变。
  • 对正常胎儿采集主动脉和肺动脉直径测量以构建12+0至15+6周大动脉列线图。

临床怎么用

  • 对16周前诊断的CTA应进行纵向超声监测以评估病变进展。
  • 早期大动脉直径测量可作为识别进展高风险病例的参考。
  • 建议对CTA胎儿提供遗传学检测。

以上解读依据论文摘要（全文未开放获取或许可不允许翻译转载）。

原文

OBJECTIVE: To assess the natural history of conotruncal anomalies (CTA) diagnosed by early fetal echocardiography, focusing on lesion progression and genetic findings. A secondary aim was to develop nomograms for great arteries at 12 + 0 to 15 + 6 weeks to assess whether early measurements could help identify fetuses at risk of CTA progression. METHOD: A retrospective cohort study of fetuses diagnosed with CTA before 16 weeks' were identified between 2018 and 2024. Only cases with postnatal or postmortem confirmation were included. Progression was defined as a morphological change requiring revision of the initial diagnosis. Genetic testing was offered. Measurements of aortic and pulmonary artery diameters were collected in normal fetuses. RESULTS: Of 152 cases of CTA diagnosed before 16 weeks, 101 met the inclusion criteria. Pregnancy termination was chosen in 31 of these cases. Among 70 ongoing pregnancies, intrauterine demise and postnatal death occurred in 4 cases. Lesion progression was observed in 28.6% of cases. Early great-artery biometry differed between progressing and non-progressing phenotypes. Genetic abnormalities were detected in 13 cases, including 8 non-isolated and 5 isolated cases. CONCLUSIONS: CTA diagnosed before 16 weeks of gestation are dynamic conditions, with one in four showing antenatal progression. Early assessment of great-artery diameters may help identify cases at higher risk of progression.

来源：Prenat Diagn，查看原文。版权归原作者所有。

引用

  1. Volpe P, Bosco M, De Robertis V, et al. Prenatal Diagnosis of Conotruncal Anomalies Before 16 Weeks: Longitudinal Evolution, Genetic Findings and Early Prognostic Markers. Prenat Diagn. 2026. PMID: 42141370. doi:10.1002/pd.70179
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供执业医师工作参考，不替代临床判断；数值与分级以指南原文为准。