Wu Qiumei, Guo Shan, Huang Biying, Ling Wen, Peng Longzhuang, Ma Hong, Chen Fa, Lyu Guorong, Liu Min, Qiu Xiuqing, Weng Zongjie
Department of Medical Ultrasonics, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Department of Pathology, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Front Cardiovasc Med. 2023 Jun 26;10:1195191. doi: 10.3389/fcvm.2023.1195191. eCollection 2023.
To explore the diagnostic clues and abnormality spectrum of heterotaxy syndrome by prenatal ultrasonography and postnatal verification.
The prenatal ultrasonic data of 88 heterotaxy syndrome fetuses were analyzed retrospectively as left isomerism (LI) and right isomerism (RI). Prenatal ultrasound compared with the anatomical casting of the fetal body after labor induction, and the confirmatory postnatal diagnosis after delivery.
Fetal LI showed typical malformations of gastric vesicles on different sides from the heart, absence of hepatic segment of the inferior vena cava (IVC), abdominal aorta (AO) parallel with the azygos vein (AV), bilateral left bronchus, bilateral left atrial appendages, and polysplenia; intracardiac malformations of AV septal defects (AVSD), single atrium (SA), left ventricular outflow tract obstruction (LVOTO), and double-outlet right ventricle (DORV); and cardiac conduction abnormalities of sinus bradycardia and AV blockage. Fetal RI reported typical malformations of gastric vesicles on different sides from the heart, juxtaposition of the IVC with AO, anomalous pulmonary venous connection (APVC), asplenia, and bilateral right atrial appendages; intracardiac malformations of AVSD, SA, single ventricle, pulmonary atresia and stenosis, and DORV. The postnatal verification revealed 3 malformations misdiagnoses and 4 malformations missed diagnoses in LI fetuses and 10 misdiagnoses and 8 missed diagnoses in RI fetuses.
The proposed five-step prenatal ultrasonography has an important diagnostic value for the identification and classification of heterotaxy syndrome. The different sides of gastric vesicles and cardiac apex are important diagnostic clues for heterotaxy syndrome, featuring disconnected or hypoplastic IVC, typical complex cardiac malformation, and atrioventricular block in fetal LI, and shown APVC, juxtaposition of IVC and AO, and intracardiac malformations such as AVSD, DORV, and LVOTO in fetal RI.
通过产前超声检查及产后验证，探索内脏反位综合征的诊断线索及异常谱。
回顾性分析88例内脏反位综合征胎儿的产前超声数据，分为左位异构（LI）和右位异构（RI）。将产前超声与引产胎儿尸体的解剖铸型进行比较，并在分娩后进行产后确诊。
胎儿LI表现为胃泡与心脏位于不同侧的典型畸形、下腔静脉（IVC）肝段缺如、腹主动脉（AO）与奇静脉（AV）平行、双侧左支气管、双侧左心耳及多脾；心脏内畸形包括房室间隔缺损（AVSD）、单心房（SA）、左心室流出道梗阻（LVOTO）及右心室双出口（DORV）；以及心脏传导异常如窦性心动过缓和房室传导阻滞。胎儿RI表现为胃泡与心脏位于不同侧的典型畸形、IVC与AO并列、肺静脉异位连接（APVC）、无脾及双侧右心耳；心脏内畸形包括AVSD、SA、单心室、肺动脉闭锁及狭窄、DORV。产后验证显示，LI胎儿中有3例畸形误诊、4例畸形漏诊，RI胎儿中有10例误诊、8例漏诊。
所提出的五步产前超声检查对内脏反位综合征的识别和分类具有重要诊断价值。胃泡和心尖的不同侧是内脏反位综合征的重要诊断线索，胎儿LI表现为IVC中断或发育不全、典型复杂心脏畸形及房室传导阻滞，胎儿RI表现为APVC、IVC与AO并列以及心脏内畸形如AVSD、DORV和LVOTO。
