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.
Copyright © 2016 Elsevier Inc. All rights reserved.
MeSH terms
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Adult
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Chorionic Villi Sampling*
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Fatal Outcome
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Female
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Forkhead Transcription Factors / genetics
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Gene Deletion
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Genetic Markers
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Humans
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Persistent Fetal Circulation Syndrome / diagnosis*
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Persistent Fetal Circulation Syndrome / genetics
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Pregnancy
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Pulmonary Alveoli / abnormalities*
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Pulmonary Veins / abnormalities*
Substances
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FOXF1 protein, human
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Forkhead Transcription Factors
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Genetic Markers
Supplementary concepts
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Alveolar capillary dysplasia