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Challenging diagnosis of prune belly syndrome antenatally: a case report

机译:产前挑战性的西梅综合症诊断:一例报告

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Abstract BackgroundPrune belly syndrome is a rare congenital condition of uncertain etiology.It is characterized with a triad of abdominal distension due to deficient abdominal wall, genitourinary tract anomalies, and musculoskeletal anomalies. This condition varies in its severity which makes diagnosis challenging during early antenatal scanning.Case presentationWe reported a severe phenotype of prune belly syndrome which was not fully suspected in a 29-year-old Saudi woman was G4T2P0A1L2 at 21?weeks of gestation at the time of early antenatal presentation; however, it became apparent during diagnosis at a subsequent follow-up scan during advanced gestational age.ConclusionWe conclude that suspicion of such anomalies through an early antenatal scan require an urgent further follow-up scan in a tertiary center. The referral to the tertiary center must be to an experienced ultrasonographer and maternal–fetal medicine specialist for a decision to be made antenatally regarding the course of pregnancy and post-delivery management based on the severity of the condition.
机译:摘要背景修剪腹部综合征是一种罕见的先天性疾病,病因不明,其特征是由于腹壁不足,泌尿生殖道异常和肌肉骨骼异常导致腹部扩张三联征。这种情况的严重程度各不相同,这使得在产前早期扫描过程中很难诊断。病例介绍我们报告了一个严重的西梅综合症的表型,在一名21岁的沙特女性中,妊娠21周时并未完全怀疑该表型为G4T2P0A1L2。产前早期表现;结论我们得出结论,怀疑通过早期的产前扫描对此类异常进行怀疑需要在三级中心进行进一步的紧急后续扫描。转诊到第三级中心必须由经验丰富的超声检查师和母婴医学专家进行,以便根据病情的严重性在产前对妊娠过程和分娩后管理做出决定。

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