January is National Birth Defects Awareness Month. This is a time to raise awareness about birth defects and their impact on individuals, parents, and families.
What is a birth defect?
Birth defects, also called congenital disorders or congenital malformations, are abnormal changes that occur during a pregnancy and are present at birth. Birth defects affect one in every 33 babies (3 percent of all babies) born in the United States each year, according to the CDC.
Most birth defects occur during the first trimester when more structural development occurs such as arms, legs, fingers, eyes and ears form as well as the brain and spinal cord finish forming. A baby’s heart begins to develop at conception, but it should be fully formed at the eight-week mark.
What Are the Most Common Birth Defects?
There are thousands of different birth defects. The most common defects include heart defects, cleft lip and palate and Down syndrome. Here is a list of the top 10 most common birth defects, according to CDC statistics.
Congenital heart defects (CHD)
Occurrence rate: 1 in every 110 births
Overview: A heart defect is an umbrella term to describe any structural heart issue that affects how the organ works. Some defects impact how blood flows due to holes in the heart while others are more specific to parts of the heart, such as the aorta.
Occurrence rate: 1 in every 200 births
Overview: This male defect occurs when the opening of the urethra is located on the underside of the penis instead of at the tip. This causes difficulty urinating, and surgery is often required.
Ventricular septal defect
Occurrence rate: 1 in every 240 births
Overview: Known as a hole in the heart, ventricular septal defects are the most common heart defect. The defect occurs when the wall between the left and right ventricle (lower chambers) doesn’t form properly and leaves an opening between the two. Some VSDs get smaller or close on their own while larger holes require surgery.
Occurrence rate: 1 in every 593 births
Overview: Clubfoot is a foot abnormality in which the foot turns inward. It is the most common musculoskeletal birth defect. In utero, tendons that connect muscle to bone are shorter, causing the foot to turn inward instead of facing flat. Clubfoot can generally be treated conservatively through gentle stretching and physical therapy. In some cases, clubfoot requires bracing and eventual surgery to adjust the tendons, ligaments and joints of the foot and ankle.
Occurrence rate: 1 in every 700 births
Overview: The most common type of chromosomal abnormality, Down syndrome, also called Trisomy 21, occurs when there is an extra copy of chromosome 21. The extra chromosome can cause physical deformities and developmental challenges.
Pulmonary valve atresia and stenosis
Occurrence rate: 1 in every 1,052 births
Overview: When the heart develops, the pulmonary value either doesn’t exist (pulmonary valve atresia) or the value becomes too thick or is fused and can’t open properly (pulmonary stenosis). As a result, blood doesn’t flow to the lungs correctly. This condition can be treated with medicines, heart catheterization or heart surgery.
Cleft lip with cleft palate
Occurrence rate: 1 in every 1,563 births
Overview: A type of orofacial cleft, this birth defect occurs when both the lip doesn’t join completely (cleft lip) and the roof of the mouth doesn’t join completely (cleft palate). Surgery during the first 12 to 18 months of your child’s life can correct the issues.
Occurrence rate: 1 in every 1,687 births
Overview: This type of birth defect occurs when just the lip doesn’t join completely in utero. Depending on the severity, the opening can be small or large enough to extend into the nose.
Atrioventricular septal defect
Occurrence rate: 1 in every 1,859 births
Overview: This common type of heart defect occurs when there is both a hole in the heart and a problem with heart valves. A partial defect involves a hole between the atria (upper heart chambers) and an abnormal mitral valve. A complete defect involves a large hole where the atria and ventricles meet and an abnormal valve between the atria and ventricles instead of having separate valves. Newborns with a partial or complete defect require heart surgery.
Occurrence rate: 1 in every 1,943 births
Overview: The second most common type of musculoskeletal defect behind a clubfoot, this defect describes any abnormality to the arms or legs. Treatment for limb deformities range from physical therapy and bracing to surgery and prosthetics.
How are birth defects diagnosed?
A birth defect can be found before birth, at birth, or any time after birth. Most birth defects are found within the first year of life. Some birth defects are easy to see, but others are found using special tests, such as echocardiograms x-rays or hearing tests. Here are the most common ways they are diagnosed:
- Prenatal ultrasounds
- Genetic screenings
- Newborn exam
- Prenatal/postnatal MRI
- Developmental milestones