Prenatal Diagnosis of Crossed Pulmonary Arteries with a Postnatal Diagnosis of CHARGE Syndrome.

IF 0.7 4区 医学 Q4 PATHOLOGY
Fetal and Pediatric Pathology Pub Date : 2024-05-01 Epub Date: 2024-01-08 DOI:10.1080/15513815.2023.2300971
Funda Oztunc, Riza Madazli, Hakan Erenel, Didem Kaymak, Serpil Eraslan, Hulya Kayserili
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引用次数: 0

Abstract

Introduction: Crossed pulmonary arteries (CPA) is an abnormality in which the ostium of the left pulmonary artery is located rightward and the ostium of the right pulmonary artery is leftward. Case report: We diagnosed a fetus with CPA prenatally. In fetal echocardiography, left pulmonary artery was seen to pass beneath the ductus and directing toward the left side and pulmonary artery bifurcation could not be demonstrated at the same plane. Postnatal echocardiography reconfirmed the presence of CPA. Bilateral choanal atresia, genital hypoplasia, hearing loss with facial and external ear asymmetry and psychomotor delay of the newborn led to clinical diagnosis of CHARGE syndrome and was confirmed by gene analysis. Discussion/Conclusion: CPA may be one of the cardiac anomalies in CHARGE syndrome.

产前诊断肺动脉交叉,产后诊断为 CHARGE 综合征。
简介交叉肺动脉(CPA)是指左肺动脉的动脉口位于右侧,而右肺动脉的动脉口位于左侧的一种异常现象。病例报告:我们在产前确诊一名胎儿患有 CPA。胎儿超声心动图显示,左肺动脉从动脉导管下方穿过并向左侧延伸,肺动脉分叉无法在同一平面上显示。出生后的超声心动图再次证实了 CPA 的存在。新生儿双侧咽喉闭锁、生殖器发育不全、听力损失、面部和外耳不对称、精神运动发育迟缓,临床诊断为CHARGE综合征,基因分析也证实了这一诊断。讨论/结论:CPA可能是CHARGE综合征的心脏畸形之一。
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来源期刊
CiteScore
3.00
自引率
0.00%
发文量
68
审稿时长
6-12 weeks
期刊介绍: Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports. The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.
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