Birth Defects

According to the Centers for Disease Control and Prevention, one in 33 babies is born with a birth defect. A birth defect is a structural change in the body and is present at birth. Some examples of birth defects are:

•   Neural Tube Defects  
• Cleft Lip / Cleft Palate—In a cleft lip, the tissue of the lip does not completely join together, leaving a small opening in the upper lip. In a cleft palate, the tissue that makes up the roof of the mouth does not fully join together. Clefts can be repaired with surgery. 
• Congenital Heart Defects
• Down Syndrome— Down Syndrome (trisomy 21) is a condition that occurs when the fetus has an extra copy of chromosome 21 in its cells. Affected children are mentally handicapped, have varying degrees of physical handicap, and often have birth defects involving the heart or the digestive tract. Down syndrome affects approximately 1 in 700-800 pregnancies. Although Down syndrome is more common when the mother is 35 or older, women of any age can have a fetus with this condition. 
• Encephalocele  
• Gastroschisis—This birth defect occurs when a small area of skin and muscle in the fetal abdominal wall, usually just to the right of the umbilical cord, fails to form properly. This creates an opening in the abdominal wall through which the bowel can herniate out of the abdomen into the amniotic cavity, outside the baby’s body. These babies need to be evaluated carefully throughout pregnancy, and plans should be made for surgery shortly after birth to close the defect. Because the amniotic fluid irritates the bowel during pregnancy, after surgery it may take several weeks for the bowel to function normally. Fortunately, with modern surgical techniques and monitoring, most babies with gastroschisis recover well.
• Kidney and Bladder Abnormalities—Birth defects involving the kidneys and bladder are the most common type of birth defects. A problem in development can happen anywhere along the urinary tract, in the kidneys, the bladder, or the urethra. Blockage in the upper portion of the urinary tract can cause urine to build up in the kidneys and result in a condition called pelviectasis or hydronephrosis. In many cases this will resolve on its own, but in some cases surgical treatment as a child may be required. The multidisciplinary team of the UAB Fetal Diagnosis and Care Center evaluates all of these fetuses prenatally and works with each family to develop an appropriate plan for follow-up and evaluation after birth. In cases of more severe kidney defects—dysplastic kidneys, absent kidneys or bladder obstruction—the amount of amniotic fluid can be significantly decreased. Amniotic fluid is critical to normal lung and joint development so babies born with low level of amniotic fluid at 18-24 weeks are at risk for lung and other problems. In some cases, treatment prior to birth may improve the chances of lung development and improve the overall outcome.
• Omphalocele—In this defect, the infant is born with its intestines—and sometimes other organs as well—outside the body. They are covered in a thin, nearly transparent sac, and can be surgically moved back into the abdominal cavity after birth. Although similar to gastroschisis, fetuses with an omphalocele often have other birth defects and so a careful evaluation of each baby is needed to determine if any other issues need to be addressed.
• Spina Bifida