食管闭锁的产前诊断：一例三联筛查阴性病例。

Prenatal diagnosis of esophageal atresia: A case of triple negative screening.

作者信息

Garabedian C, Vaast P, Verpillat P, Sfeir R, Coulon C, Houfflin-Debarge V

机构信息

CHU Lille, Department of Obstetrics, F-59000 Lille, France; University of Lille, EA 4489 - Perinatal Environment and Health, F-59000 Lille, France.

CHU Lille, Department of Obstetrics, F-59000 Lille, France.

出版信息

J Gynecol Obstet Hum Reprod. 2019 Jan;48(1):69-70. doi: 10.1016/j.jogoh.2018.10.012. Epub 2018 Oct 19.

DOI:10.1016/j.jogoh.2018.10.012

PMID:30347256

Abstract

Esophageal atresia (EA) is prenatally diagnosed in less than one third of the cases and is usually only suspected. Recently, magnetic resonance imaging (MRI) with dynamic sequence and biochemistry of the amniotic fluid have been proposed to enhance prenatal diagnosis of EA. We report the case of a triple negative screening (ultrasound, MRI with dynamic sequence and biochemistry of the amniotic fluid) with a postnatal diagnosis of EA type III with a small defect. Even using second line tests, prenatal diagnosis of EA remains a challenge.

摘要

食管闭锁（EA）在不到三分之一的病例中能够在产前得到诊断，通常只是被怀疑。最近，有人提出采用动态序列磁共振成像（MRI）和羊水生化检查来提高EA的产前诊断率。我们报告了一例通过三项阴性筛查（超声、动态序列MRI和羊水生化检查），产后诊断为III型EA且伴有小缺损的病例。即使使用二线检查，EA的产前诊断仍然是一项挑战。