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脐带帆状附着导致的完全性动脉干和主动脉弓中断并四肢异常的产前诊断:罕见且不常见的关联。

Prenatal diagnosis of truncus arteriosus with interrupted aortic arch and abnormal limbs due to an umbilical cord amniotic band: rare entities with an unusual association.

机构信息

Department of Obstetrics and Gynecology, Joan XXIII University Hospital, Tarragona, Spain

Pere Virgili Health Research Institute, Reus, Spain.

出版信息

BMJ Case Rep. 2020 Nov 4;13(11):e236049. doi: 10.1136/bcr-2020-236049.

Abstract

Truncus arteriosus, interrupted aortic arch and amniotic band syndrome are rare conditions. We report a case of a 38-year-old pregnant woman who was diagnosed on a routine morphological ultrasound scan with a Van Praagh type A4 persistent truncus arteriosus with an aortic arch interruption type B and abnormal limbs (oedematous left hand, hypoplastic fingers on the right hand and right big toe amputation). Elective termination of the pregnancy was carried out and the pathological examination confirmed all the sonographic findings. Furthermore, an amniotic band parallel to the umbilical cord undetected during the ultrasound scans was revealed, and was entangled around the right hand, left wrist and the umbilical cord, causing strangulation. We present the unusual association of these independent pathologies and emphasise the usefulness of fetal autopsy in all cases of pregnancy termination and abnormal ultrasound findings to make the complete diagnosis.

摘要

动脉干永存、主动脉弓中断和羊膜带综合征均较为罕见。我们报告了一例 38 岁孕妇病例,该孕妇在常规形态学超声检查中被诊断为 Van Praagh 型 A4 永存动脉干,伴主动脉弓中断 B 型和肢体异常(左手水肿,右手手指发育不全,右大脚趾截肢)。进行了选择性终止妊娠,病理检查证实了所有超声发现。此外,还发现了一条与脐带平行的未在超声检查中检测到的羊膜带,它缠绕在右手、左手腕和脐带周围,导致绞窄。我们提出了这些独立病理情况的不常见关联,并强调了在所有终止妊娠和异常超声发现的病例中进行胎儿尸检以做出完整诊断的重要性。

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