Yang Lin, Cai Yuting, Chen Huie, Ke Linfang, Wu Shufen
Department of Ultrasound, Zhangzhou Affiliated Hospital of Fujian Medical University, Zhangzhou, China.
Department of Obstetrics, Zhangzhou Affiliated Hospital of Fujian Medical University, Zhangzhou, China.
Front Cardiovasc Med. 2024 May 20;11:1377095. doi: 10.3389/fcvm.2024.1377095. eCollection 2024.
To explore the clinical value of echocardiography in detecting fetal cardiac axis abnormalities during middle pregnancy for diagnosing conus arteriosus malformation, and to compare and analyze the genetic diagnosis results, in order to provide evidence for clinical diagnosis and intervention.
Four hundred twenty-one fetuses with conus arteriosus malformation from January 2020 to October 2023 were included as the conus arteriosus malformation group, and 917 healthy fetuses (all single fetuses) matched at the same gestational age were selected as the healthy group.
There was no significant difference in gestational weeks between two groups ( > 0.05). The age of pregnant women in conus arteriosus malformation group was lower compared to healthy group ( < 0.05), and the fetal cardiac axis in conus arteriosus malformation group was significantly higher compared to healthy group ( < 0.05). Among the fetuses with conus arteriosus malformation, tetralogy of Fallot (TOF), transposition of the great arteries (TGA) and double outlet right ventricle (DORV) had the highest proportions, accounting for 38.00%, 18.29% and 17.58%, respectively. Among all types of conus arteriosus malformations, atresia pulmonary valve syndrome associated with TOF, persistent truncus arteriosus and DORV exhibited higher proportions of fetal cardiac axis abnormalities, at 75.00%, 36.84% and 27.03%, respectively, while TGA and interrupted aortic arch associated with B-type interruption had lower proportions of fetal cardiac axis abnormalities, at 2.60% and 4.55%, respectively. Genetic testing was conducted on 73 cases (17.34%) of fetuses with conus arteriosus malformation in this study. Among them, fetal cardiac axis abnormalities were considered positive for genetic results due to factors such as aneuploidy, copy number abnormalities, and single-gene pathogenicity. A total of 31 cases tested positive for genetic anomalies, with a positive rate of approximately 42.47%.
In the middle pregnancy, the fetal cardiac axis in cases of conus arteriosus malformation was significantly higher than in normal fetuses. Moreover, there were variations in fetal cardiac axis among different types of conus arteriosus malformations, and these differences were notably associated with genetic diagnostic results.
探讨妊娠中期超声心动图检测胎儿心脏轴异常对诊断圆锥动脉干畸形的临床价值，并对基因诊断结果进行比较分析，为临床诊断和干预提供依据。
纳入2020年1月至2023年10月421例圆锥动脉干畸形胎儿作为圆锥动脉干畸形组，选取917例同孕周匹配的健康胎儿（均为单胎）作为健康组。
两组孕周差异无统计学意义（>0.05）。圆锥动脉干畸形组孕妇年龄低于健康组（<0.05），圆锥动脉干畸形组胎儿心脏轴明显高于健康组（<0.05）。在圆锥动脉干畸形胎儿中，法洛四联症（TOF）、大动脉转位（TGA）和右心室双出口（DORV）所占比例最高，分别为38.00%、18.29%和17.58%。在所有类型的圆锥动脉干畸形中，与TOF相关的肺动脉瓣闭锁综合征、永存动脉干和DORV胎儿心脏轴异常比例较高，分别为75.00%、36.84%和27.03%，而TGA和与B型中断相关的主动脉弓中断胎儿心脏轴异常比例较低，分别为2.60%和4.55%。本研究对73例（17.34%）圆锥动脉干畸形胎儿进行了基因检测。其中，由于非整倍体、拷贝数异常和单基因致病性等因素，胎儿心脏轴异常被认为基因结果呈阳性。共有31例基因异常检测呈阳性，阳性率约为42.47%。
妊娠中期，圆锥动脉干畸形胎儿的心脏轴明显高于正常胎儿。此外，不同类型的圆锥动脉干畸形胎儿心脏轴存在差异，且这些差异与基因诊断结果显著相关。
