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Comparison of prenatal ultrasound and postmortem findings in fetuses with common pulmonary vein atresia

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机构: [1]Department of Echocardiography, Beijing Key Laboratory of Maternal‐Fetal Medicine in Fetal Heart Disease, Beijing Anzhen Hospital, Capital Medical University, Beijing, China [2]Department of Neurology, Dongzhimen Hospital Affiliated to Beijing University of Chinese Medicine, Beijing, China [3]Department of Ultrasound, Maternity and Child Care Centers in Fujian Province, Fuzhou, China [4]Department of Pathology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China [5]The Heart Center, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, Pennsylvania
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关键词: autopsy cardiovascular cast common pulmonary vein atresia fetal echocardiography prenatal diagnosis

摘要:
Background The previous literature on common pulmonary vein atresia (CPVA) mainly consists of neonatal case reports. There is a lack of research on the prenatal diagnosis of CPVA. Methods We conducted a retrospective study of all fetuses with CPVA confirmed by autopsy between August 2010 and May 2018. Prenatal echocardiographic features, autopsy findings, and genetic test results were analyzed. We compared fetal CPVA with total anomalous pulmonary venous return (TAPVR) and neonatal CPVA. Results During the study period, fetal echocardiography was performed on 31 617 fetuses. Six cases of CPVA were identified by autopsies, including 1 case performed with a cardiovascular cast. All 6 cases (100%) had asplenia syndrome (AS) and bilateral superior vena cava (BSVC). In 1 case (16.7%), the prenatal ultrasound results were in complete agreement with the postmortem findings. Four cases (66.7%) were misdiagnosed as TAPVR by prenatal echocardiography. For the remaining case (16.7%), no pulmonary venous anomalies were detected on prenatal echocardiography. No aneuploidy was identified in any of the cases. There were no statistically significant differences among the proportions of associated complex anomalies and AS between the fetal CPVA and TAPVR groups. The proportion of associated complex anomalies and AS in the fetal CPVA group was higher than that in the neonatal group (P < 0.05). Conclusions Prenatal diagnosis of fetal CPVA is difficult and challenging even for experts. Our study showed that fetal CPVA is often combined with AS, complex cardiac malformations, and BSVC. These findings may help in the diagnosis of fetal CPVA.

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出版当年[2018]版:
大类 | 4 区 医学
小类 | 4 区 心脏和心血管系统
最新[2023]版:
大类 | 4 区 医学
小类 | 4 区 心脏和心血管系统
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出版当年[2017]版:
Q4 CARDIAC & CARDIOVASCULAR SYSTEMS
最新[2023]版:
Q3 CARDIAC & CARDIOVASCULAR SYSTEMS

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第一作者机构: [1]Department of Echocardiography, Beijing Key Laboratory of Maternal‐Fetal Medicine in Fetal Heart Disease, Beijing Anzhen Hospital, Capital Medical University, Beijing, China
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通讯作者:
通讯机构: [1]Department of Echocardiography, Beijing Key Laboratory of Maternal‐Fetal Medicine in Fetal Heart Disease, Beijing Anzhen Hospital, Capital Medical University, Beijing, China [*1]Department of Echocardiography, Beijing Key Laboratory of Maternal‐fetal Medicine in Fetal Heart Disease, Beijing Anzhen Hospital, Capital Medical University, No.2, Anzhen Road, Chaoyang District, Beijing 100029, China.
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