by Allison Sundman on 2024-04-25

Birth defects occur in approximately 2 to 4 percent of livebirths. Marisol Flores, MD, who is an Ob/Gyn and Assistant Area Medical Director for Kaiser Permanente, shares what they have learned about birth defects and how women can improve their chances of having a baby born without a birth defect. 

Dr. Marisol says, “A birth defect is a condition that is present at birth. Some birth defects are caused by the parents’ genes. Others result from problems with chromosomes (too many, not enough, deleted, or relocated chromosomes).”  

Birth defects are caused by a complex mix of factors. We don’t fully understand how these factors might work together to cause birth defects. “A small number can be caused by exposure to medications, infections, and chemicals during pregnancy, and for many birth defects (50-70%), the cause is unknown. Every pregnancy starts with a 3-5% chance of having a birth defect (also called background risk),” adds Dr. Marisol.  

Risk factors  

Here are some risk factors that place pregnant patients at a higher risk for birth defects. 

Common types of medications that are known to cause birth defects and should be avoided are:   

Pregnant women often receive a prenatal diagnosis from a variety of techniques, both invasive and non-invasive, when they are provided prenatal care. The techniques are employed to determine the health and condition of the developing fetus. Dr. Marisol shares, “Birth defects are, for the most part, diagnosed prenatally after an obstetrical ultrasound. When there is a high suspicion of a birth defect, blood tests to check for infections and genetic screening are recommended. Sometimes, amniotic fluid is obtained to rule out infections and chromosomal abnormalities.”  

Prevention   

We know that not all birth defects can be prevented. But we also know that women can increase their chances of having a healthy baby by managing health conditions and adopting healthy behaviors before becoming pregnant. “Most birth defects cannot be prevented since most defects are of unknown cause,” says Dr. Marisol. Some actions that can prevent birth defects are:  

Dr. Marisol explains, “a developing fetus is most vulnerable to birth defects during the embryo stage when organs are developing. For example, substance or chemical exposure can cause the greatest injury to a fetus between two and ten weeks after conception”.  

Treatment for birth defects will depend on the type of defect. For example, an extra digit can be surgically removed, or a cleft palate or some heart defect can be repaired. Defects from infection or chromosomes involve defects in multiple organs, which may be a life-long problem.   

Babies who have birth defects often need special care and interventions to survive and thrive developmentally. Early intervention is key. If your child has a birth defect, you should ask his or her doctor about resources and treatment.