Prenatally diagnosed fetal lung lesions with associated conotruncal heart defects: Is there a genetic association?

Margaret R. Hüsler, R. Douglas Wilson, Jack Rychik, Michael W. Bebbington, Mark P. Johnson, Stephanie E. Mann, Holly L. Hedrick, Scott Adzick

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Congenital lung malformation can easily be diagnosed by prenatal ultrasound. Associated extrapulmonary malformations such as heart defects and chromosomal aberrations are rare. Objective: The objective of this study was to describe the natural history, outcome and other associated malformations in fetuses with lung lesions and an associated heart defect. Methods: Retrospective analysis of 4 cases of prenatally diagnosed fetal CCAMs and hybrid lesions with an associated heart defect and review of 8 cases in the literature. Results: At a single referral center 1.9% of the fetuses with Congenital cystic adenomatoid malformation (CCAM) were diagnosed with an associated heart defect. Seven of the total 12 cases (58%) reviewed had a conotruncal heart abnormality. Chromosomal abnormalities were found in 5 (42%) of the cases. Conclusion: This retrospective review shows that karyotyping in fetal lung lesions with an associated heart defect or isolated large lung lesions is indicated. It also suggests that there is a subpopulation of fetuses with CCAMs who have conotruncal heart defects. This finding may suggest a common genetic background.

Original languageEnglish
Pages (from-to)1123-1128
Number of pages6
JournalPrenatal Diagnosis
Issue number12
StatePublished - Dec 1 2007


  • Chromosomal aberrations
  • Congenital cystic adenomatoid malformation
  • Conotruncal heart defect
  • Fetal lung malformation
  • Genetic
  • Sonic hedgehog


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