Roughly 1 out of every 33 babies born in the US each year are diagnosed with a birth defect. In fact, birth defects are the leading cause of deaths in infants and are responsible for 20% of infant mortality.
A birth defect is a structural or functional abnormality in the growth and development of a child that can be inherited or caused by environmental factors. Birth defects can be mild or severe, and not every child diagnosed with the same birth defect will experience the same symptoms at the same level of severity.
How Does a Birth Defect Occur?
Birth defects can happen in two ways:
1. Inherited single-gene disorders - In these types of disorders, the condition is passed down to the child from the parent. We mostly associate genes with characteristics such as eye and hair color. However, genes are responsible for all aspects of our physical and intellectual growth. When a mutated gene is passed on to a child, it may result in a birth defect.
2. Chromosomal abnormalities - Birth defects that occur as a result of a chromosomal abnormality typically occur randomly or due to environmental factors. Chromosomes are structures that carry our genes. When there is an abnormality in the number or composition of the chromosomes, a birth defect can occur
Who is at Risk of Having a Child With a Birth Defect?
The Centers for Disease Control and Prevention outline the following situations that put mothers at a higher risk of having a child with a birth defect:
● Smoking, drinking, or using harmful substances or certain medications while pregnant
● Being of advanced maternal age 35 or older at the time of pregnancy
● Having a pre-existing chronic condition such as type 2 diabetes, high blood pressure, and/or obesity when pregnant
● Having a family medical history of a certain genetic condition or birth defect
How is a Birth Defect Diagnosed?
Depending on the type of birth defect identified, a diagnosis can be made before birth, at birth, or after birth.
Diagnosis during pregnancy - Throughout your pregnancy, you will undergo ultrasounds and routine blood tests to monitor your health and the health of your baby. If you are of advanced maternal age (35 years or older) at the time of your pregnancy, your doctor may recommend noninvasive prenatal genetic testing. Using a blood sample, placental DNA is analyzed in order to assess the risk that your child may have a chromosomal abnormality, without the risks associated with invasive prenatal testing.
Diagnosis at or after birth - If you choose to forego prenatal screening and testing, your doctor will diagnose a birth defect or a chromosomal abnormality at the time of birth. The majority of birth defects are identified within one year of birth. If your doctor is unable to make a diagnosis at the time of birth, he or she may recommend that you see a specialist in order to conduct a physical examination or a blood test using a blood sample from your baby.
Is it Possible to Prevent Birth Defects?
The Centers for Disease Control and Prevention recommend following these behaviors when trying to conceive and during pregnancy in order to prevent birth defects:
● Make sure you get 400 mg of folic acid daily
● Avoid consumption of alcohol, tobacco, and other harmful substances
● Maintaining a healthy lifestyle and manage chronic conditions such as diabetes
● Communicate with your healthcare provider regularly
If you are planning on becoming pregnant, or if you have recently found out you are pregnant, talk to your doctor about how to maintain a healthy pregnancy. If you think you may be at risk of having a child with a birth defect, your obstetrician can help you understand your prenatal testing options.