Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

Prothro SL, Plosa E, Markham M, Szafranski P, Stankiewicz P, Killen SA
J Pediatr. 2016 170: 317-8

PMID: 26703872 · PMCID: PMC5476418 · DOI:10.1016/j.jpeds.2015.11.041

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.

Copyright © 2016 Elsevier Inc. All rights reserved.

MeSH Terms (12)

Adult Chorionic Villi Sampling Fatal Outcome Female Forkhead Transcription Factors Gene Deletion Genetic Markers Humans Persistent Fetal Circulation Syndrome Pregnancy Pulmonary Alveoli Pulmonary Veins

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