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Hüsler, M R; Wilson, R D; Rychik, J; Bebbington, M W; Johnson, M P; Mann, S E; Hedrick, H L; Adzick, N S (2007). Prenatally diagnosed fetal lung lesions with associated conotruncal heart defects: is there a genetic association? Prenatal Diagnosis, 27(12):1123-1128.

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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.

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Obstetrics
DDC:610 Medicine & health
Deposited On:24 Feb 2010 08:23
Last Modified:27 Nov 2013 19:52
Publisher DOI:10.1002/pd.1845
PubMed ID:17787025
Citations:Web of Science®. Times Cited: 4
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Scopus®. Citation Count: 5

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