Purpose

Ebstein anomaly (EA) and tricuspid valve dysplasia (TVD) represent uncommon congenital malformations of the tricuspid valve. The purpose of this study is to report on current perinatal outcomes of EA/TVD in our center and to investigate clinical and fetal echocardiographic predictors of perinatal mortality.

Methods and Results

We performed a retrospective study among fetuses diagnosed from January 2014 to December 2023. Clinical and echocardiographic data were obtained from hospital records of Research and Education Hospital. The primary outcome was perinatal mortality. Of 21 fetuses diagnosed, there were 1 lost to follow-up, 1 termination, and 7 demises. In the live-born cohort of 12 live-born patients, 2 died before discharge, yielding an overall perinatal mortality of 50%. The median gestational age at diagnosis was 23 for non-survivors and 24 weeks for survivors. Birth weight was lower in non-survivors (2430 g vs 2990 g). Tricuspid insufficiency severity varied insignificantly. Non-survivors exhibited higher rates of hydrops, functional atresia, and absent antegrade flow (p < 0.05). Two infants with severe tricuspid insufficiency and congenital abnormalities died postnatally. The limited dataset enables further analysis for a predictive model. Notably, all non-survivors displayed hydrops, functional atresia, and absent antegrade flow, hindering definitive determination of the most impactful parameter on survival estimation.

Conclusion

Perinatal mortality remains notably elevated in fetuses with EA/TVD. The individuals at the highest risk are those with antegrade flow loss and functional atresia of pulmonary valve, this high-risk subgroup could benefit from targeted interventions, such as novel prenatal therapies or a more comprehensive perinatal approach involving optimized timing of delivery and postnatal interventional strategies.

中文翻译：

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早期产前诊断后的围产期结局：来自单中心 Ebstein 异常和三尖瓣发育不良经验的见解

目的

Ebstein 异常 (EA) 和三尖瓣发育不良 (TVD) 是罕见的三尖瓣先天畸形。本研究的目的是报告我们中心目前 EA/TVD 的围产期结局，并调查围产期死亡率的临床和胎儿超声心动图预测因素。

方法和结果

我们对 2014 年 1 月至 2023 年 12 月诊断的胎儿进行了回顾性研究。临床和超声心动图数据来自研究和教育医院的医院记录。主要结局是围产期死亡率。在确诊的 21 名胎儿中，有 1 名失访、1 名终止妊娠、7 名死亡。在由 12 名活产患者组成的活产队列中，有 2 名患者在出院前死亡，围产期总体死亡率为 50%。非幸存者诊断时的中位孕龄为 23 周，幸存者诊断时的中位孕龄为 24 周。非幸存者的出生体重较低（2430 克 vs 2990 克）。三尖瓣关闭不全的严重程度差异不大。非幸存者表现出较高的水肿、功能性闭锁和顺行血流缺失的发生率（p  < 0.05）。两名患有严重三尖瓣关闭不全和先天畸形的婴儿出生后死亡。有限的数据集可以对预测模型进行进一步分析。值得注意的是，所有非幸存者均表现出水肿、功能性闭锁和顺行血流缺失，这阻碍了对生存估计最有影响力的参数的明确确定。

结论

患有 EA/TVD 的胎儿的围产期死亡率仍然显着升高。风险最高的个体是顺行血流丢失和肺动脉瓣功能性闭锁的患者，这一高风险亚组可以受益于有针对性的干预措施，例如新型产前治疗或更全面的围产期方法，包括优化分娩时间和产后干预策略。