According to the Centers for Disease Control and Prevention, in the United States, a baby is born with a birth defect every 4.5 minutes.
There are more than 4,000 identified birth defects, ranging from minor to severe. Some minor birth defects may not need any treatment, while severe birth defects might need long-term attention or surgical treatment.
What Is a Birth Defect?
Birth defects are characterized as either structural or functional. Structural birth defects occur when an abnormality is present in the structure of certain body parts. These abnormalities may include missing or abnormal limbs, a cleft palate, or misshapen valves in the heart.
Functional birth defects occur when there’s an abnormality in the function of a specific body part or body system. These abnormalities may cause conditions such as seizures, hearing and vision loss, Down syndrome, and muscular dystrophy.
Birth defects are typically caused by one of three factors: chromosomal abnormalities, genetic conditions, or environmental factors.
Chromosomal abnormalities are anomalies in the number and normal pattern of chromosomes in the DNA. When there are one or more extra chromosomes present, or when one or more chromosomes is missing, this is called a numerical abnormality.
A structural abnormality occurs when the structure of one or more chromosomes changes. These changes can include deletions or additions of genetic material to the chromosome, translocations (when a part of one chromosome detaches and reattaches to another chromosome), and inversions (when a piece of a chromosome detaches, turns upside down, then reattaches to the same chromosome).
Genetic abnormalities occur when there is a change to the normal structure of a specific gene, causing it to mutate. Mutations to genes can occur on either dominant or recessive genes. When a mutation is located on a dominant gene, the individual only needs one copy of the mutated gene to inherit the genetic condition. When a mutation is located on a recessive gene, the individual needs two copies of the mutated gene to inherit the genetic condition.
Environmental, Non-genetic Factors
Birth defects don’t always happen due to abnormalities in genetic material. Viruses, chronic health conditions in the mother, and habits such as smoking and drinking while pregnant can also play a large role in the prevalence of birth defects. For example, expecting mothers with diabetes are nearly four times more likely to give birth to a child with a birth defect than women without diabetes.
How Are Birth Defects Diagnosed?
In the first prenatal visit, your doctor will discuss your current health as well as your family medical history. If anything seems like it might be a risk factor for birth defects, you will be offered the option of undergoing prenatal screening and testing.
Noninvasive prenatal screening can be performed as early as week 10 in your pregnancy without the risks associated with prenatal invasive procedures. If there is a risk that your child has a birth defect, you will be offered additional testing.
It is important to know that these tests are optional. If you choose to forego these tests, birth defects will be diagnosed at birth.
How are Birth Defects Treated?
Available and appropriate treatment options will vary based on the birth defect as well as the severity of the condition. Some birth defects may be treated before birth, others might be treated shortly after birth, while others may affect the child for the rest of his or her life. It is best to discuss the condition as well as treatment options with your doctor.
Consider Speaking to a Genetic Counselor
Genetic counselors are trained healthcare professionals that can help you understand the risks associated with specific birth defects. Additionally, genetic counselors are able to analyze the likelihood that the child will be born with a birth defect by looking at family history and risk factors. Talk to your doctor or a genetic counselor to learn more about risk factors associated with birth defects.