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Lung Birth Defects: Information on Causes, Diagnosis & Treatments

Lung Defects Birth Lung birth defects (congenital lung disorders) are also referred to as congenital lung malformations and cystic lung disease that tend to develop when the fetus is developing in the mother's womb. Many lung birth defects are initially discovered during a prenatal ultrasound. However, by one out of every ten cases of congenital lung disorders are not diagnosed until the baby is born, and another approximately fifteen percent of cases will display obvious signs and symptoms in the first fifteen years of the child's life.

Doctors and researchers categorize congenital lung disorders and four general types that include:

  • Bronchogenic Cysts – This form of lung birth defect develops on the trachea or esophagus but can also develop in the lower lobes of the lung. Most cysts can grow large and become infected and eventually compromise the child's airways.

  • Congenital Cystic Adenomatoid Malformations (CCAM) – These formations are also referred to as a congenital pulmonary airway malformation that develops by excessive growth of the baby's lung tissue. The child may develop one or more CCAMs at once or over time. Typically, the cysts will fill with fluid or become a solid mass residing in the lung. These formations also prevent the air sacs in the lungs (alveoli) from normal development and typically form in just one lobe.

  • Lobar Emphysema – This rare but serious condition interferes with the child's airways and contracts airflow when the child is breathing. It also causes the lobes in the lung to become overinflated.

  • Pulmonary Sequestrations – This solid mass formation affects lung tissue without connecting to a blood supply or lung airway. The mass can develop externally (extralobular) in the chest or stomach, or internally (interlobular) in the lungs.

Who Acquires Lung Birth Defects?

Approximately one out of every thirty-three children in America are born with some type of birth defect, including lung birth defects. Many of these defects can be severe or minor and affect organ function, child's appearance, or their mental/physical development. Prematurity, or being born prematurely seems to be the major cause of most breathing disorders related to the development of the lung. Typically, children who display lung birth defects are born before their lungs and other organs fully developed.

Obstetricians will usually detect defects in the child's development while still in the womb. Many prenatal screening tests can identify birth defects including lung abnormalities. Some of the common conditions associated with birth defects including lung disorders include:

  • Chromosome abnormalities including Down syndrome

  • Spina bifida, anencephaly or another neural tube defect

  • Congenital heart defect

  • Inherited metabolic disorder

  • Kidney and gastrointestinal malformations

  • Other conditions when the organs have not yet developed before birth

The most common causes associated with mothers giving birth to children with defects include:

  • Mild and excessive alcohol consumption

  • Illegal drug use during pregnancy

  • Smoking

  • Genetic predisposition where another member of the family suffers from a birth defect

  • Birth mother who are 35 years and older

Even though the mother or child may be at risk because of one or more of the causes listed above, this does not mean the mother will birth a baby with a defect. Many mothers have children with birth defects even when there were no causal factors.

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Prevention and Lowering Risks

Because there are so many associated risks and genetic predisposition factors, not every birth defect can be prevented. However, there are things mothers can do prior to becoming pregnant and during their pregnancy to increase the chances of birthing a healthy baby. These preventative measures include:

  • Routinely visit a health care provider especially when becoming pregnant

  • Take 400 µg of folic acid each day beginning at least a month prior to becoming pregnant

  • Avoid consuming alcohol, using illegal drugs or smoking before becoming pregnant and during pregnancy

  • Discuss the medications you are taking with your health care provider and never begin taking any drug without consultation with your doctor

  • Take steps to prevent an infection during your pregnancy

  • Take steps to reduce the birth defects associated with obesity and diabetes

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Common Lung Birth Defect Symptoms

Many newborns and children with a breathing disorder will present specific symptoms that occur immediately, or in the days, weeks, months or years after their birth. The most common lung birth defect symptoms include:

  • Inability to breathe

  • irregular breathing

  • Shallow breathing

  • Nasal flaring

  • Grunting

  • Retraction that occurs when the baby pulls their chest in

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Diagnosing a Lung Birth Defect

Many lung birth defects are diagnosed while the child was still in the womb or immediately after birth. However, less severe congenital lung defects can go undetected or won't be diagnosed for years as a child continues to develop.

Normally, the doctor will diagnose congenital lung defects long before the child is born. Using a prenatal ultrasound device, the machine can detect abnormal lung tissue, cystic masses and other malformations of the lungs. Once the defect is detected, the mother will likely undergo serial ultrasounds that target the area during regular intervals to see how the condition is developing.

Many masses, lesions and other abnormal tissue and can grow or shrink and signs or remain the same. The doctor may recommend the mother undergo a fetal echocardiogram to rule out specific defects or confirmed the diagnosis. In addition, a measurement can be done using the ultrasound equipment to measure the flow of blood through certain blood vessels. In some instances, the lung formation is detected after the child was born and undergone a CT (computerized tomography) scan or x-ray to detect any breeding issue or recurrent lung infection.

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Lung Birth Defect Treatments

Maternal fetal medicine specialists and pediatric surgeons can recommend a wide range of treatments including fetal intervention to care for the lung malformation. Some doctors will recommend fetal interventions that improve baby's outcome that include:

  • Maternal Steroids – During this procedure, the mother will receive two steroid drug injections to treat large microcystic lesions or hydrops (accumulating watery fluid in serous cavities, tissues and cell) during pregnancy. The steroids are thought to prevent the onset development of large lesions while diminishing any existing hydrops.

  • Thoracoamniotic Shunts – Large cysts that cause fetal hydrops are often treated using shunts where tube drains fluid from the cyst into the amniotic fluid.

  • Fetal Lobectomy – A surgeon can perform fetal lobectomy surgery to surgically remove the lesion through the baby's chest incision. While the fetus is removed from the wound during this procedure, it is returned to the womb for the remainder of the pregnancy. However, many babies who have had this procedure were born prematurely.

  • Ex Utero Intrapartum Treatment – If the mother took maternal steroids and the lesion did not diminish in size, the doctor can perform in ex utero intrapartum treatment that removes the malformation while the fetus is still connected to the umbilical cord. The baby usually requires the use of a specialized heart-lung machine immediately after birth so the lungs can recover and adjust to working properly outside the womb.

Most lung malformations presented at birth should be addressed by specialists who have previous experience with these types of lesions to ensure the most successful outcome for the baby.

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