肺泡毛细血管发育不良伴肺静脉错位的产前诊断
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
作者信息
Prothro Stephanie L, Plosa Erin, Markham Melinda, Szafranski Przemyslaw, Stankiewicz Pawel, Killen Stacy A S
机构信息
Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN.
Division of Neonatology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN.
出版信息
J Pediatr. 2016 Mar;170:317-8. doi: 10.1016/j.jpeds.2015.11.041. Epub 2015 Dec 17.
Abstract
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare, lethal cause of neonatal respiratory failure and persistent pulmonary hypertension. We present a presumptive prenatal diagnosis of ACDMPV based on chorionic villus sampling of a FOXF1 mutation in a fetus with extra-pulmonary anomalies often associated with ACDMPV.
摘要
肺泡毛细血管发育不良伴肺静脉异位引流（ACDMPV）是新生儿呼吸衰竭和持续性肺动脉高压的一种罕见致死原因。我们报告了一例基于对一名患有常与ACDMPV相关的肺外异常胎儿进行绒毛取样检测到FOXF1基因突变的ACDMPV产前疑似诊断病例。
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