Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chorionic Villi Sampling*
  • Fatal Outcome
  • Female
  • Forkhead Transcription Factors / genetics
  • Gene Deletion
  • Genetic Markers
  • Humans
  • Persistent Fetal Circulation Syndrome / diagnosis*
  • Persistent Fetal Circulation Syndrome / genetics
  • Pregnancy
  • Pulmonary Alveoli / abnormalities*
  • Pulmonary Veins / abnormalities*

Substances

  • FOXF1 protein, human
  • Forkhead Transcription Factors
  • Genetic Markers

Supplementary concepts

  • Alveolar capillary dysplasia