January is birth defect awareness month. The definition of a birth defect is, according to the CDC is structural changes present at birth that can affect almost any part or parts of the body (e.g., heart, brain, foot). They may affect how the body looks, works, or both. Birth defects can vary from mild to severe.

Birth Defect Awareness: The Types, Causes and Treatments

For many families, birth defects can be a difficult and surprising part of pregnancy, birth, and newborn life. Birth defects can vary in severity from mild to severe, some even being fatal. According the birth defect statistics from the CDC, 1 in 33 or 3% of babies in the United States are born with a birth defect.

Some families learn of these congenital anomalies, also known as congenital abnormalities, while the baby is still in utero. For other families, birth defects are discovered shortly after birth. For some, the discovery may not happen until later into the child’s life. Knowing about the types of birth defects, causes, symptoms, and treatment can help all families and professionals. If you have a child with a birth defect, know that we see you. If you have not had the experience of a birth defect, it can be helpful as a friend, family member, or coworker to be informed of what they are and how they are cared for.

5 Most Common Birth Defects

Congenital Heart Defects

Congenital heart defects (CHDs) are the most common birth defect. 1 in every 100 babies are born with a CHD. CHDs take many different forms and have a wide range of severity. A CHD is an abnormality in the formation of the heart which can impact the organ’s function. Some of these CHDs require immediate surgery. Some require surgery after birth. Other CHDs are monitored throughout life without needed intervention. The most common CHDs are Pulmonary Valve Atresia and Stenosis, Coarctation of the Aorta, Atrioventricular Septal Defect, and Tetralogy of Fallot

Down Syndrome: Trisomy 21

Babies born with Down Syndrome, or Trisomy 21, are born with an extra chromosome. This has an affect on the brain and body development of the baby. Down Sydrome impacts around 1 in every 700 births. Like other defects, the severity of Down Sydrome varies greatly and can have both physical and intellectual implications.

Cleft Lip and Palate

Cleft lip and palate is an abnormality that occurs when the tissue that makes up the lip (cleft lip) or the roof of the mouth (palate) does not fully form and connect. This leaves an opening that can lead to feeding and speaking difficulties. Cleft lip and/or palate impacts around 1 in every 1,500 births.

Spina Bifida

Spina Bifida is a neural tube defect that affects the spine. This occurs when the neural tube does not close all the way, leading to lack of protection for the spinal cord. Severity of spina bifida can range from mild to severe and include physical and intellectual difficulties. Spina Bifida impacts around 1 in every 2,700 births. Other, less common neural tube defects are anencephaly and encephalocele.

Clubfoot

Clubfoot is a muscular/bone defect that impacts around 1 in every 600 births. This birth defect is not known to cause pain or discomfort for a baby. But, it needs to be treated and corrected for walking and movement. A baby born with clubfoot will have a foot that appears to be twisted or upside down.

Young mother holding her newborn child in hands

Anatomy Scans: More Than a Gender Reveal

Not all birth defects are identified in utero. Many are and the number continues to grow. For some, like Trisomy 21, blood testing can identify any abnormalities present in the baby in utero. Many birth defects are identified via an ultrasound.

Around 18-20 weeks, most pregnant women are offered an anatomy scan. Many see this as an opportunity to identify the gender of their baby. While identifying gender is a fun part, the anatomy scan is about so much more. During the anatomy scan, your sonographer will look at all the areas of your baby that can indicate a congenital abnormality. The sonographer will spend time looking at the heart and other organs, the spinal development, the face, and the overall structure of your baby’s body. The sonographer is trained to look for birth defects while the baby is in utero. Knowing about these birth defects allows you to participate in your anatomy scan and ensure that all areas are explored.