Prenatal diagnosis of pulmonary atresia with intact ventricular septum: a single-center study in China.

IF 1.9 3区 医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS
Qiong Huang, Tingting Dang, Zhenzhen Zhan, Zongjie Weng, Wen Ling, Huagu Tian, Qiumei Wu
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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.

完整室间隔肺闭锁的产前诊断:一项中国单中心研究。
目的:探讨产前超声诊断完全性室间隔肺闭锁(PA/IVS)的价值。方法:回顾性分析2013年1月至2023年12月福建省妇幼保健院收治的48例PA/IVS病例。产前超声对PA/IVS的特征进行了表征和分类。对妊娠结局进行随访,并与终止妊娠后病理解剖或产后影像学结果进行比较。本研究旨在增进对PA/IVS的认识,提高其产前诊断的准确性。结果:48例PA/IVS中,早孕期确诊4例,中晚期确诊44例。在妊娠中后期组,ⅰ型29例(TV-Z评分范围- 1.77 ~ 5.22),ⅱ型10例(TV-Z评分范围- 3.50 ~ -2.06),ⅲ型5例(TV-Z评分范围- 4.29 ~ -7.41)。该队列包括41例单胎妊娠和7例双胎妊娠。19例观察心室-冠状动脉通讯(VCAC)。其他异常包括Ebstein异常(EA) 3例,卵圆孔开口受限1例,卵圆孔内径增大1例,静脉导管a波反转或加深6例,脐静脉搏动1例。19例患者进行了基因检测(羊膜穿刺术、NIPT或SNP-array),其中1例患者在21号染色体q22.3区域发现基因组拷贝数缺失。妊娠结局包括41例终止妊娠(5例病理性剥离或血管铸造),5例活产,1例选择性复位,1例宫内死亡。结论:胎儿超声心动图是诊断PA/IVS的有效工具。虽然PA/IVS可以在妊娠早期诊断出来,但它的诊断仍然具有挑战性。鉴于PA/IVS在子宫内的进行性,在妊娠中期和晚期进行连续超声检查对于监测疾病进展和血流动力学变化至关重要。此外,在整个妊娠期间,应系统地对相关的心内和心外异常进行全面评估。
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来源期刊
Cardiovascular Ultrasound
Cardiovascular Ultrasound CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
4.10
自引率
0.00%
发文量
28
审稿时长
>12 weeks
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.
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