Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion

Am J Med Genet A. 2021 May;185(5):1494-1497. doi: 10.1002/ajmg.a.62105. Epub 2021 Jan 31.


First trimester ultrasound screening is an essential fetal examination performed generally at 11-13 weeks of gestation (WG). However, it does not allow for an accurate description of all fetal organs, partly due to their development in progress. Meanwhile, increased nuchal translucency (INT) is a widely used marker known to be associated with chromosomal deleterious rearrangements. We report on a 14 WG fetus with an association of INT and univentricular congenital heart malformation (CHM) leading to chorionic villous sampling (CVS). Cytogenetic investigations performed using array-Comparative Genomic Hybridization (CGH) and fluorescence in situ hybridization (FISH) demonstrated a 1.17 Mb deletion in 16q24.1 encompassing FOXF1 arisen de novo on maternal inherited chromosome. Fetopathological study confirmed CHM with hypoplastic left heart syndrome (HLHS) associating aortic atresia, mitral stenosis, and left ventricular hypoplasia and revealed in addition specific lung lesions corresponding to alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). This is so far the first case of first trimester prenatal diagnosis of ACDMPV due to the deletion of FOXF1 gene. An interpretation of the complex genomic data generated by ultrasound markers is facilitated considerably by the genotype-phenotype correlations on fetopathological examination.

Keywords: 16q24.1; ACDMPV; FOXF1; HLHS; first trimester ultrasound screening; prenatal diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16 / genetics
  • Comparative Genomic Hybridization
  • Early Diagnosis
  • Female
  • Forkhead Transcription Factors / genetics*
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Persistent Fetal Circulation Syndrome / diagnosis*
  • Persistent Fetal Circulation Syndrome / genetics
  • Persistent Fetal Circulation Syndrome / pathology
  • Pregnancy
  • Prenatal Diagnosis
  • Pulmonary Alveoli / abnormalities*
  • Pulmonary Alveoli / pathology
  • Pulmonary Veins / abnormalities
  • Pulmonary Veins / diagnostic imaging
  • Pulmonary Veins / growth & development
  • Pulmonary Veins / pathology
  • Sequence Deletion


  • FOXF1 protein, human
  • Forkhead Transcription Factors

Supplementary concepts

  • Alveolar capillary dysplasia