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J Pediatr. 2016 Mar;170:317-8. doi: 10.1016/j.jpeds.2015.11.041. Epub 2015 Dec 17.

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

Author information

1
Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN.
2
Division of Neonatology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN.
3
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
4
Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN. Electronic address: stacy.stratemann@vanderbilt.edu.

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.

PMID:
26703872
PMCID:
PMC5476418
DOI:
10.1016/j.jpeds.2015.11.041
[Indexed for MEDLINE]
Free PMC Article

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