{"title":"Prenatal diagnosis of pulmonary atresia with intact ventricular septum: a single-center study in China.","authors":"Qiong Huang, Tingting Dang, Zhenzhen Zhan, Zongjie Weng, Wen Ling, Huagu Tian, Qiumei Wu","doi":"10.1186/s12947-025-00348-0","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the efficacy of prenatal ultrasound in diagnosing pulmonary atresia with intact ventricular septum (PA/IVS).</p><p><strong>Methods: </strong>This retrospective study analyzed 48 cases of PA/IVS at the Fujian Maternity and Child Health Hospital between January 2013 and December 2023. Prenatal ultrasound was used to characterize and classify the features of PA/IVS. Pregnancy outcomes were followed up, and the results were compared with post-termination pathological anatomical findings or postnatal imaging. This study aims to enhance the understanding of PA/IVS and improve the accuracy of its prenatal diagnosis.</p><p><strong>Results: </strong>Among the 48 PA/IVS cases, four were diagnosed during early pregnancy and 44 during mid-to-late pregnancy. In the mid-to-late pregnancy group, there were 29 cases of type I (TV-Z scores ranging from - 1.77 to 5.22), 10 cases of type II (TV-Z scores ranging from - 3.50 to -2.06), and five cases of type III (TV-Z scores ranging from - 4.29 to -7.41). The cohort included 41 singleton pregnancies and seven twin pregnancies. Ventriculo-coronary artery communication (VCAC) was observed in 19 cases. Additional abnormalities included Ebstein's anomaly (EA) in three cases, restricted opening of the foramen ovale in one case, increased inner diameter of the foramen ovale in one case, reversal or deepening of the a-wave of the ductus venosus in six cases, and umbilical vein pulsation in one case. Genetic testing (amniocentesis, NIPT, or SNP-array) was performed in 19 cases, with one case revealing a genomic copy number deletion in the q22.3 region of chromosome 21. Pregnancy outcomes included 41 terminations (five with pathologic dissection or vascular casting), five live births, one selective reduction, and one intrauterine death.</p><p><strong>Conclusion: </strong>Fetal echocardiography is an effective tool for diagnosing PA/IVS. While PA/IVS can be diagnosed in early gestation, it remains diagnostical challenging. Given the progressive nature of PA/IVS in utero, sequential ultrasound examinations during the second and third trimesters are essential for monitoring disease progression and hemodynamic changes. Additionally, a comprehensive evaluation for associated intracardiac and extracardiac anomalies should be systematically conducted throughout the pregnancy.</p>","PeriodicalId":9613,"journal":{"name":"Cardiovascular Ultrasound","volume":"23 1","pages":"12"},"PeriodicalIF":1.9000,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12013191/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cardiovascular Ultrasound","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12947-025-00348-0","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0
Abstract
Objectives: To evaluate the efficacy of prenatal ultrasound in diagnosing pulmonary atresia with intact ventricular septum (PA/IVS).
Methods: This retrospective study analyzed 48 cases of PA/IVS at the Fujian Maternity and Child Health Hospital between January 2013 and December 2023. Prenatal ultrasound was used to characterize and classify the features of PA/IVS. Pregnancy outcomes were followed up, and the results were compared with post-termination pathological anatomical findings or postnatal imaging. This study aims to enhance the understanding of PA/IVS and improve the accuracy of its prenatal diagnosis.
Results: Among the 48 PA/IVS cases, four were diagnosed during early pregnancy and 44 during mid-to-late pregnancy. In the mid-to-late pregnancy group, there were 29 cases of type I (TV-Z scores ranging from - 1.77 to 5.22), 10 cases of type II (TV-Z scores ranging from - 3.50 to -2.06), and five cases of type III (TV-Z scores ranging from - 4.29 to -7.41). The cohort included 41 singleton pregnancies and seven twin pregnancies. Ventriculo-coronary artery communication (VCAC) was observed in 19 cases. Additional abnormalities included Ebstein's anomaly (EA) in three cases, restricted opening of the foramen ovale in one case, increased inner diameter of the foramen ovale in one case, reversal or deepening of the a-wave of the ductus venosus in six cases, and umbilical vein pulsation in one case. Genetic testing (amniocentesis, NIPT, or SNP-array) was performed in 19 cases, with one case revealing a genomic copy number deletion in the q22.3 region of chromosome 21. Pregnancy outcomes included 41 terminations (five with pathologic dissection or vascular casting), five live births, one selective reduction, and one intrauterine death.
Conclusion: Fetal echocardiography is an effective tool for diagnosing PA/IVS. While PA/IVS can be diagnosed in early gestation, it remains diagnostical challenging. Given the progressive nature of PA/IVS in utero, sequential ultrasound examinations during the second and third trimesters are essential for monitoring disease progression and hemodynamic changes. Additionally, a comprehensive evaluation for associated intracardiac and extracardiac anomalies should be systematically conducted throughout the pregnancy.
期刊介绍:
Cardiovascular Ultrasound is an online journal, publishing peer-reviewed: original research; authoritative reviews; case reports on challenging and/or unusual diagnostic aspects; and expert opinions on new techniques and technologies. We are particularly interested in articles that include relevant images or video files, which provide an additional dimension to published articles and enhance understanding.
As an open access journal, Cardiovascular Ultrasound ensures high visibility for authors in addition to providing an up-to-date and freely available resource for the community. The journal welcomes discussion, and provides a forum for publishing opinion and debate ranging from biology to engineering to clinical echocardiography, with both speed and versatility.