Öcal Aydın, Demirci Oya, Kahramanoğlu Özge, Ayhan Işıl, Erol Nurdan, Yücel İlker Kemal
Department of Perinatology, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Department of Pediatric Cardiology, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Echocardiography. 2024 Mar;41(3):e15790. doi: 10.1111/echo.15790.
Our aim in this study was to investigate the prenatal and postnatal prognosis of double outlet right ventricle (DORV) cases diagnosed prenatally by analyzing the outcomes based on the subtype.
This study is a retrospective chart review. Cases diagnosed with fetal DORV by prenatal ultrasound in the maternal-fetal medicine department of our hospital between 2014 and 2022 were included. Data on maternal characteristics, fetal echocardiographic features (type of DORV), pregnancy and neonatal outcomes (termination of pregnancy [TOP], intrauterine fetal death [IUD], neonatal death [NND], death in infancy (IND), survival) were collected and analyzed.
Ninety-nine cases of prenatally diagnosed cases of DORV were included. The prenatal diagnosis was right in 97% of the liveborn fetuses. The cases were classified into subtypes, including transposition of great arteries (TGA), Fallot, ventricular septal defect (VSD), remote, and heterotaxy types. The cohort consisted of 32.3% TGA type, 19.1% fallot type, 11.1% VSD type, 2% remote type, and 35.3% heterotaxy type of DORV. An additional cardiac anomaly was observed in 87% and an extra-cardiac anomaly was observed in 54% of the cases. When we excluded the cases with heterotaxy type but without any chromosomal abnormality, additional genetic abnormalities were detected in 42% of the remaining cases. Outcome of pregnancy was livebirth in 68/99 (68.7%), IUFD in 5/99 (5.1%), and TOP in 26/99 (26.3%). Postnatal cardiac surgical repair was performed in 48 cases. Survival among livebirths was 39/68 (57.3%). Twenty-nine neonates or infants who had additional cardiac anomalies and/or genetic abnormalities died before any surgical intervention. The postoperative survival rate was 39/48 (81.2%).
The prognosis in DORV depends on the anatomical subtype, the presence, and severity of associated anomalies. Survival increases in isolated cases without any additional structural or genetic anomalies.
本研究旨在通过基于亚型分析结果，探讨产前诊断的右心室双出口（DORV）病例的产前和产后预后。
本研究为回顾性病历审查。纳入2014年至2022年期间在我院母胎医学科通过产前超声诊断为胎儿DORV的病例。收集并分析产妇特征、胎儿超声心动图特征（DORV类型）、妊娠和新生儿结局（终止妊娠[TOP]、宫内胎儿死亡[IUD]、新生儿死亡[NND]、婴儿期死亡[IND]、存活）的数据。
纳入99例产前诊断为DORV的病例。97%的活产胎儿产前诊断正确。病例分为多种亚型，包括大动脉转位（TGA）、法洛四联症、室间隔缺损（VSD）、远距离型和心脏异构型。该队列中DORV的TGA型占32.3%，法洛四联症型占19.1%，VSD型占11.1%，远距离型占2%，心脏异构型占35.3%。87%的病例观察到额外的心脏异常，54%的病例观察到心脏外异常。当我们排除心脏异构型但无任何染色体异常的病例时，在其余病例中有42%检测到额外的基因异常。妊娠结局为活产68/99（68.7%），宫内胎儿死亡5/99（5.1%），终止妊娠26/99（26.3%）。48例进行了产后心脏手术修复。活产儿中的存活率为39/68（57.3%）。29例有额外心脏异常和/或基因异常的新生儿或婴儿在任何手术干预前死亡。术后存活率为39/48（81.2%）。
DORV的预后取决于解剖亚型、相关异常的存在及严重程度。无任何额外结构或基因异常的孤立病例存活率增加。
