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 journalArticle

13 Scopus citations

Abstract

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
Volume27
Issue number12
DOIs
StatePublished - Dec 1 2007
Externally publishedYes

Keywords

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

Fingerprint Dive into the research topics of 'Prenatally diagnosed fetal lung lesions with associated conotruncal heart defects: Is there a genetic association?'. Together they form a unique fingerprint.

  • Cite this

    Hüsler, M. R., Wilson, R. D., Rychik, J., Bebbington, M. W., Johnson, M. P., Mann, S. E., Hedrick, H. L., & Adzick, S. (2007). Prenatally diagnosed fetal lung lesions with associated conotruncal heart defects: Is there a genetic association? Prenatal Diagnosis, 27(12), 1123-1128. https://doi.org/10.1002/pd.1845