Kahramanoglu Ozge, Eyisoy Omer Gokhan, Demirci Oya
Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Department of Perinatology, Health Science University, Istanbul 34668, Turkey.
Diagnostics (Basel). 2024 Dec 19;14(24):2855. doi: 10.3390/diagnostics14242855.
To assess the prenatal course and early postnatal outcomes of fetuses diagnosed with tricuspid atresia and to identify predictors of survival. This was a retrospective study of 25 fetuses diagnosed with tricuspid atresia in a single tertiary referral center, evaluating prenatal echocardiographic features and postnatal outcomes. A total of 4 of 29 initially diagnosed fetuses were excluded due to changes in diagnosis or loss to follow-up, leaving 25 fetuses for analysis. Of these, 16 (64%) had concordant VA alignment, 8 (32%) had discordant VA connections, and 1 had a double-outlet left ventricle (DOLV). Pulmonary stenosis was observed in 13 fetuses, and 10 (40%) had extracardiac anomalies. Genetic testing, performed in 5 cases, identified a chromosomal anomaly in one case (trisomy 18). Overall, three pregnancies were terminated due to severe associated anomalies. Among the 22 liveborn infants, survival at 12 months was 72%. Restrictive ventricular septal defect (VSD) and the high ductus venosus pulsatility index were significantly associated with lower survival ( = 0.021 and = 0.034, respectively). Tricuspid atresia can be accurately diagnosed in utero with a thorough echocardiographic evaluation. Restrictive VSD and outflow tract obstructions are critical determinants of early survival, while abnormal DV Doppler patterns may serve as additional markers for adverse outcomes. More extensive studies are needed to validate these findings and improve prognostic counseling.
评估被诊断为三尖瓣闭锁胎儿的产前病程及出生后早期结局，并确定生存的预测因素。这是一项在单一三级转诊中心对25例被诊断为三尖瓣闭锁胎儿进行的回顾性研究，评估产前超声心动图特征及出生后结局。最初诊断的29例胎儿中有4例因诊断改变或失访而被排除，剩余25例胎儿进行分析。其中，16例（64%）心室动脉连接一致，8例（32%）心室动脉连接不一致，1例为左心室双出口（DOLV）。13例胎儿观察到肺动脉狭窄，10例（40%）有心脏外异常。5例进行了基因检测，1例（18三体）发现染色体异常。总体而言，3例妊娠因严重相关异常而终止。在22例活产婴儿中，12个月时的生存率为72%。限制性室间隔缺损（VSD）和高静脉导管搏动指数与较低生存率显著相关（分别为 = 0.021和 = 0.034）。通过全面的超声心动图评估可在子宫内准确诊断三尖瓣闭锁。限制性VSD和流出道梗阻是早期生存的关键决定因素，而异常的静脉导管多普勒模式可能是不良结局的额外标志物。需要更广泛的研究来验证这些发现并改善预后咨询。
