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


CONCLUSIONS
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.
Hüsler
Margaret R
MR
The Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia, PA 19104-4399, USA.
Wilson
R Douglas
RD
Rychik
Jack
J
Bebbington
Michael W
MW
Johnson
Mark P
MP
Mann
Stephanie E
SE
Hedrick
Holly L
HL
Adzick
Scott
S
D015615:Cystic Adenomatoid Malformation of Lung, Congenital / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005333:Fetus; D006330:Heart Defects, Congenital / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies