title: Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
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.
authors.affiliation: Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN.
authors.forename: Stephanie L
authors.initials: SL
authors.lastname: Prothro
authors.affiliation: Division of Neonatology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN.
authors.forename: Erin
authors.initials: E
authors.lastname: Plosa
authors.affiliation: Division of Neonatology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN.
authors.forename: Melinda
authors.initials: M
authors.lastname: Markham
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
authors.forename: Przemyslaw
authors.initials: P
authors.lastname: Szafranski
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
authors.forename: Pawel
authors.initials: P
authors.lastname: Stankiewicz
authors.affiliation: Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN. Electronic address: stacy.stratemann@vanderbilt.edu.
authors.forename: Stacy A S
authors.initials: SA
authors.lastname: Killen
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D017809:Fatal Outcome; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D017353:Gene Deletion; D005819:Genetic Markers; D006801:Humans; D010547:Persistent Fetal Circulation Syndrome / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011650:Pulmonary Alveoli / Q000002:abnormalities*; D011667:Pulmonary Veins / Q000002:abnormalities*
chemical_list: C098521:FOXF1 protein, human; D051858:Forkhead Transcription Factors; D005819:Genetic Markers