Birth Defects

Structural abnormalities, which are also called birth defects, are relatively rare and incredibly variable. They can range from very minor and easily treated to severe and even life-threatening. Some examples of birth defects are:

A birth defect can be an isolated finding, meaning that there are no other related health problems, or they could be an indicator of an underlying genetic condition or syndrome that may be associated with other health and developmental concerns.

What if a birth defect is detected on prenatal ultrasound?

The next steps will depend on the specific finding or concern. Sometimes a birth defect on ultrasound is associated with a higher likelihood of certain genetic or chromosomal condition in the baby and further diagnostic testing, such as amniocentesis, may be offered. While amniocentesis can provide a lot of information, there is a risk of miscarriage, so the decision about whether or not to undergo an amniocentesis is yours.

Regardless of whether or not you decide to do follow-up diagnostic testing and regardless of the results, it is not uncommon for more follow-up ultrasounds to take place after an ultrasound finding has been identified.  It may be recommended that you deliver your baby at a hospital with a critical care nursery that is equipped to address any special medical needs your baby may have. Some birth defects can be repaired with surgery and some cannot.

In the rare situation that a baby is diagnosed with life threatening abnormalities on ultrasound, expectant parents should be counseled about their options. Some women choose to end their pregnancy if serious abnormalities are discovered. Some women decide to carry their pregnancies and may be supported through a perinatal hospice program if their baby is not expected to survive.

What if a birth defect is found after delivery?

Not all birth defects will be seen on prenatal ultrasound. Sometimes we don’t identify the specific finding or concern until after a baby is born. If a baby has a birth defect, the next steps will depend on the specific finding or concern. It may be recommended that your child be seen by a geneticist for further evaluation or undergo genetic testing (see “Genetics & Child Development” for more information).

Click here to learn more about scheduling a genetic counseling appointment for pregnancy-related questions.

Last updated on Jun 1st, 2021

Ready to learn more?


Schedule a personalized consultation with one of our certified genetic counselors.


Schedule here