Cystic adenomatoid malformation of the lung: review of genetics, prenatal diagnosis, and in utero treatment.
Prenatal identification of lung abnormalities has increased with prenatal surveillance. Treatment usually requires serial ultrasound observation but in rare situations in utero therapy may be required for fetal survival. We review the genetics, prenatal evaluation, and treatment of lung abnormalities with congenital cystic adenomatoid malformation (CCAM). Other lung lesions, bronchopulmonary sequestration (BPS), hybrid lesions involving both malformations, congenital lobar emphysema (CLE), are briefly included as differential diagnosis options. Outcome of fetuses identified to have CCAM lung abnormalities resulting in fetal hydrops and having in utero therapy (thoracoamniotic shunting, fetal thoracotomy, EXIT delivery) are discussed. In the appropriate situation, this maternal fetal surgery approach for CCAM is life-saving for the affected fetus with acceptable maternal morbidity risks in the present and future pregnancies.
Wilson
R Douglas
RD
Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-4399, USA. wilsonrd@email.chop.edu
Hedrick
Holly L
HL
Liechty
Kenneth W
KW
Flake
Alan W
AW
Johnson
Mark P
MP
Bebbington
Michael
M
Adzick
N Scott
NS
D015615:Cystic Adenomatoid Malformation of Lung, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D011296:Prenatal Diagnosis