Airway, Breathing and Lung Conditions

Congenital Lung Malformation Symptoms and Diagnosis

Symptoms of Congenital Lung Malformations

Children with congenital lung malformations may have these symptoms:

  • Trouble breathing
  • Frequent or repeated chest infections (pneumonia), or chest infections that don't clear up as quickly as doctors expect
  • Wheezing
  • Shortness of breath
  • Pain with breathing

Congenital Lung Malformation Diagnosis

Diagnosis before birth

Often lung malformations are diagnosed because they show up on a routine prenatal ultrasound.

If malformations are diagnosed before your baby is born, your baby's medical team will monitor your baby's condition. For instance, you may need frequent ultrasounds or other imaging studies, like fetal MRI (magnetic resonance imaging) and fetal echocardiogram s. The team will check the size of the malformations and watch for signs of problems.

It is possible, but not likely, that congenital cystic adenomatoid malformations (CCAMs) and some pulmonary sequestrations (PSs) will shrink or even disappear before birth. If this happens with your baby, the team will do imaging studies after your baby is born to see if the malformations are gone. Usually this means having a CT (computed tomography) scan (sometimes said "CAT scan").

Some CCAMs and PSs stay the same size or get bigger before birth. If this happens with your baby, the team will provide care before birth if any is needed. They will make a plan to manage your child's condition after delivery.

Before birth, doctors may use a measurement called CVR to help tell whether your baby is at low risk or high risk for heart failure (hydrops). CVR stands for CCAM volume-to-head-circumference ratio. To get the CVR, the doctor divides the size (volume) of the CCAM by the size (circumference) of your baby's head. A CVR of 1.6 or greater means higher risk.

If your baby has a PS, doctors may use a genetic test (fetal karyotyping) before birth to check for problems with your baby's chromosomes.

Diagnosis after birth

If malformations were not diagnosed before birth and your child develops symptoms of a malformation, your child's doctor will ask for a detailed history of your child's illness. The doctor will do a thorough exam.

Your child may need imaging studies to check for lung problems. Most likely your child will need a chest X-ray and a CT scan of the chest. The doctor may also use other studies, including MRI, bronchoscopy (threading a thin tube with a camera through the child's mouth or nose to their airways) and echocardiogram s.