Understanding birth defects is crucial for expecting parents and caregivers. Birth defects are structural changes present at birth that can affect any part of the body. Birth defects can affect how the body looks, functions, or both.
In general, birth defects are common. They can happen during any stage of pregnancy.
Birth defects can occur in various parts of the body, including the heart, brain, or other organs, and can range in severity from mild to severe.
Types of birth defects
There are many different types of birth defects, each with its own causes, symptoms, and treatment options. Some common types of birth defects include Down syndrome, clubfoot, sickle cell disease, cystic fibrosis, and microcephaly.
While some birth defects may not need any treatment, others can be managed with medication or therapy. Some might require surgical intervention. Surgeons at WashU Medicine provide advanced surgical care for heart defects, urological problems, colorectal problems, and other types of birth defects.
Important
The Centers for Disease Control and Prevention (CDC) notes that a birth defect does not make a person “defective.”
While a baby born with a birth defect may require special care, early intervention from experts can help meet a child’s needs.
Congenital heart defects
Congenital heart defects (CHDs) are problems with the heart’s structure that are present at birth.
Common types include tetralogy of Fallot and ventricular septal defect (VSD).
The exact causes of CHDs are often unknown, but they can be related to genetic factors, maternal infections, or certain environmental exposures during pregnancy.
Symptoms may include cyanosis (bluish skin), difficulty breathing, and poor feeding. Treatment options range from medications to surgical procedures to correct the defects.
Learn more about pediatric cardiothoracic surgery>>
Cleft lip/palate
Cleft lip and palate are openings or splits in the upper lip and the roof of the mouth (palate) that occur when a baby’s lip or mouth do not form properly during pregnancy.
Causes can include genetic factors, maternal smoking or diabetes, and certain medications taken during pregnancy.
Symptoms include difficulty feeding and speaking. Treatment often involves surgical repair shortly after birth and additional therapies such as speech therapy.
Atresia
Atresia refers to the absence or closure of a normal body opening or tubular structure. Examples include esophageal atresia and biliary atresia.
These conditions can be caused by genetic factors, environmental exposures, or unknown reasons.
Symptoms vary depending on the type but can include vomiting, difficulty swallowing, and jaundice. Treatment typically involves surgical procedures to correct the defect.
Colorectal birth defects
Gastroschisis
Gastroschisis is a defect where the baby’s intestines extend outside of the body through a hole next to the belly button.
The exact causes are not well understood, but they may involve genetic and environmental factors.
Symptoms are visible at birth with intestines outside the body. Treatment involves surgery shortly after birth to place the intestines back inside the abdomen and close the hole.
Learn more about gastroschisis>>
Imperforate anus
Imperforate anus is a condition where the anus is missing or blocked.
It can be caused by abnormal fetal development. The specific genetic or environmental causes are often unknown.
Symptoms include the absence of an anal opening. Treatment requires surgical creation of a normal anal opening.
More information on imperforate anus>>
Pyloric stenosis
Pyloric stenosis is a condition where the passage from the stomach to the small intestine is narrowed, causing severe vomiting.
Causes may involve genetic factors. It is more common in males.
Symptoms include projectile vomiting and dehydration. Treatment is a surgical procedure called pyloromyotomy to open the narrowed passage.
Pyloric stenosis symptoms, diagnosis, and treatment>>
Hirschsprung disease
Hirschsprung disease is a condition where nerve cells are missing from parts of the intestines, causing problems with passing stool.
It is caused by mutations in certain genes. It is more common in males and in individuals with other genetic syndromes.
Symptoms include severe constipation and abdominal swelling. Treatment involves surgical removal of the affected portion of the intestine.
Learn more about Hirschsprung disease>>
Urological birth defects
Spina bifida
Spina bifida is a neural tube defect that occurs when the spinal column does not close completely during fetal development. This leaves part of the spinal cord and nerves exposed, which can cause a range of physical and cognitive disabilities.
The exact causes are often unknown, but folic acid deficiency in the mother is a significant risk factor. Other risk factors include maternal diabetes, obesity, and taking certain medications during pregnancy.
Symptoms depend on the severity of the defect but can include muscle weakness or paralysis, loss of sensation, bowel and bladder problems, and cognitive challenges.
Treatment typically involves surgery to close the opening in the spine shortly after birth, along with ongoing physical therapy and medical management to address associated complications.
Spina bifida types and treatments>>
Neurogenic bladder
Neurogenic bladder is a bladder dysfunction caused by neurological damage. It can result from conditions such as spina bifida, spinal cord injury, or multiple sclerosis, affecting the nerves that control bladder function.
Neurogenic bladder is typically caused by damage to the nerves that control the bladder due to congenital defects like spina bifida, traumatic spinal cord injuries, or diseases affecting the nervous system. Read more about common neurogenic bladder causes>>
Symptoms include urinary incontinence, urinary retention, frequent urinary tract infections, and difficulty emptying the bladder. Treatment options vary based on severity and may include catheterization to manage bladder emptying, medications to improve bladder function, and surgery to create a more manageable urinary system.
Learn more about neurogenic bladder>>
What to know
Being aware of common birth defects and understanding their causes, symptoms, and treatments can help parents and caregivers to seek timely medical intervention. If you have concerns about birth defects, consult with your health care provider for personalized advice and support.
Read next: Prenatal care and birth defects>>