HealthONE - January 28, 2020

According to the Center for Disease Control and Prevention (CDC), approximately 3% of all babies born in the United States each year are born with some type of birth defect. Furthermore, around 20% of all infant deaths are as a result of severe birth-related defects. However, most birth defects are not life-threatening.

It is not surprising that expecting mothers often list the possibility of birth defects as one of their main concerns during pregnancy. Better understanding the facts around birth defects and ways to help prevent them can ease the anxiety of expecting mothers and family members alike.

What, exactly, are birth defects? What are the most common causes? How can they be prevented?

What Are Birth Defects?

Birth defects refer to any physical or biochemical problem that occurs as the baby is developing in the womb. These defects can range from minor to life-threatening and may affect physical appearance, how the body works, or both.

How the birth defect affects the specific child’s life varies depending upon the affected body part or organ, as well as the severity. For example, some common structural birth defects like cleft lip can be fixed via minor surgery.

What Causes Birth Defects?

Some birth defects have specific causes that are known thanks to researchers in the field. However, many conditions have unknown causes, leaving those who focus on research related to birth defects under the assumption that the following factors (or a combination of factors) may play a role:

  • Genetics
  • Exposure to medicine and chemicals (e.g. fetal alcohol syndrome)
  • Chromosome issues
  • Nutritional deficit
  • Infections during pregnancy

Birth defects can be caused by everything from gene abnormalities and extra or missing chromosomes to exposure to alcohol and other substances and medications that impair proper development. Even simply not getting enough folic acid can lead to neural tube defects. In short, a variety of causes or a combination of factors can ultimately lead to birth defects.

What Are The Most Common Types of Birth Defects?

The most common types of birth defects tend to involve the heart, central nervous system, chromosomal issues, and cleft lip and/or palate.

  • Chromosome Issues: Birth defects can occur when a baby has more or fewer chromosomes than the typical 46 (23 from each parent) or when there is a small piece of a chromosome missing or extra (microdeletion/duplication). The most common defect in this category is Trisomy 21, which is often referred to as Down Syndrome. The condition occurs in approximately 1 out of every 691 births.
  • Cleft Lip and Palate: Cleft lip and/or palate affects approximately 1 out of every 940 live births and is characterized by abnormal formation of the lips and/or palate.
  • Heart: When it comes to the heart, congenital heart defects are the most common, affecting approximately 8 out of every 1,000 babies born in the United States. These defects alter the blood flow through the heart. There are several different defects within this category, with severity ranging from minor without any symptoms to life-threatening. We know it can be difficult to hear that your child has a congenital heart defect, but our heart team is ready to help.
  • Central Nervous System: The most common condition affecting the central nervous system (CNS) is spina bifida, affecting approximately 1 out of every 2,858 babies born within the United States. In this condition, the protective case around the spinal cord - the neural tube - fails to completely close, which damages the spinal cord and nerves. RMHC specialists are proud to offer advance treatment options for spina bifida.

How Are Birth Defects Diagnosed?

With the advancement of technology, it is now possible to diagnose birth defects earlier than ever before. The specific diagnosis and timeframe for being able to make a diagnosis vary depending upon the specific birth defect.

Some birth defects can be diagnosed from the womb of pregnant women, often during prenatal testing (such as blood work and ultrasounds). Others may not be diagnosed until after birth during newborn screenings, or even later in life as symptoms develop.

Risk Factors and Tips For Preventing Birth Defects

When it comes to birth defects, there are some factors that place some women at a higher risk, such as the following:

  • Smoking, drinking alcohol, or using drugs during pregnancy
  • Taking certain medications
  • Having certain health conditions, such as diabetes or obesity
  • Having a history of birth defects in the family

Some of these risk factors can be avoided, such as smoking during pregnancy, to increase the likelihood of having a healthy pregnancy.

Although not all birth defects are preventable, some are. Below are a few things expecting mothers can do during their pregnancy to help decrease the risk of birth defects and increase the likelihood of having a healthy baby:

  • Seek consistent prenatal care
  • Avoid alcohol, smoking, and taking drugs
  • Take prenatal vitamins (specifically 400 micrograms of folic acid daily)
  • Obtain approval for medications you are taking from your doctor
  • Talk to your doctor about preventing infections while pregnant (e.g. Zika virus)
  • Get existing medical conditions under control before getting pregnant

Those looking to get pregnant soon should start taking folic acid daily and strive for a healthier lifestyle consisting of a healthy diet and exercise in addition to talking with their health care provider for additional recommendations.

If you or a loved one has been told that your pregnancy may be more high risk due to a possible birth defect or other pregnancy related condition, we encourage you to contact our Center for Maternal Fetal Health.

Rocky Mountain Hospital for Children is part of the HealthONE family, a division of HCA, in Denver.