Birth defects

This section describes some of the most common birth defects babies have in the NICU:

• Cleft lip and cleft palate
• Congenital diaphragmatic hernia
• Down syndrome
• Gastroschisis
• Spina bifida

cleft lip and cleft palate (kleft lip and kleft PAL-it)
What it is: Cleft lip is a health condition that is present at birth (also called birth defect) in which a baby’s upper lip doesn’t form completely and has an opening in it. Cleft palate is a birth defect in which the roof of the baby’s mouth (called the palate) doesn’t form completely and has an opening in it. In some cases, a baby can have both a cleft lip and a cleft palate. Babies with cleft lip or cleft palate can have trouble feeding.

Treatment: In most cases, surgery can fix the condition. For cleft lip, surgery often is done around 6 to 12 weeks of age. For cleft palate, surgery is done around 9 to 18 months of age. The baby may need more than one surgery to fix the condition.


congenital diaphragmatic hernia (kuhn-JEN-uh-tuhl dye-uh-fra-MAT-ik HUR-nee-uh)
What it is: A birth defect (health condition present at birth that changes the shape or function of one or more parts of the baby’s body) in which a baby is born with an opening in the diaphragm, the large muscle that separates the chest and stomach area. The stomach and intestines (parts of the body that digest food and absorb liquids and salts) move through the opening and push upward into the chest. Once there, they crowd the lungs and keep them from developing in a healthy way.

Treatment: Surgery puts the stomach and intestines in the right place and closes the opening in the diaphragm. The baby will likely get breathing support.


Down syndrome
What it is: Also called Trisomy 21. A chromosomal condition (when a baby has a problem in one or more of his chromosomes) that includes a combination of birth defects. Birth defects are health conditions that are present at birth and change the shape or function of one or more parts of a baby’s body. A baby with Down syndrome may have some degree of:

  • Intellectual and developmental disabilities (problems with how the brain works that can cause a person to have trouble or delays in physical development, learning, communicating, taking care of himself or getting along with others)
  • Certain facial features
  • Heart defects (a problem with the heart that is present at birth)
  • Hearing and vision problems

Treatment: Some babies may need speech therapy (to help them talk), occupational therapy (to help them learn to do activities like holding things and feeding themselves), and physical therapy (to help improve their strength and coordination). There is no cure for Down syndrome.

 

gastroschisis (gass-trohs-KEE-siss)
What it is: When a baby’s intestines (parts of the body that digest food and absorb liquids and salts) and sometimes other organs, are outside of the baby’s belly.

Treatment: Surgery can put the baby’s organs back in place and close the opening in the abdominal wall.


spina bifida (SPYE-nuh BIF-i-duh)
What it is: A birth defect (health condition present at birth that changes the shape or function of one or more parts of the baby’s body) that affects the lower back and sometimes the spinal cord. Part of the spinal cord often is exposed at birth in babies with spina bifida. A spinal cord is a bundle of nerves that runs down the middle of the back. It carries signals between the brain and the body. Spina bifida is an example of a neural tube defect, also called NTD. NTDs are birth defects of the brain and spinal cord.

Treatment: Some cases are mild and don’t need treatment. More serious cases require surgery soon after birth. Even with surgery, babies with this condition may have lasting disabilities, like problems walking and going to the bathroom. These babies often need physical therapy to help strengthen their legs and feet.