Worrying About Birth Defects

When you are pregnant, it’s natural to have concerns about your baby’s health. You may be nervous about whether your baby is developing at a healthy rate, or if they could be born with any birth defects, congenital anomalies or other birth complications. 

Most prenatal care providers offer a general screening test (blood test) that can check for the risk of certain common birth defects or chromosomal abnormalities. This test is not diagnostic and is used along with ultrasound to look for visible signs of birth defects. 

Suppose you are at high risk for birth defects, such as over 35 years of age or have a family history of genetic abnormalities. In that case, your provider may refer you for genetic testing and counseling. If any birth defect is confirmed in testing, the counselor can help prepare you for caring for your child accordingly.

Related: How to Prepare for a Prenatal Genetic Counseling Session

Getting Prenatal Genetic Counseling

Genetic counseling offers support for couples who may be at high risk for birth defects. A genetic counselor has specialized training in genetics and how birth defects occur. Some birth defects are inherited and others are not, so it’s important to understand your risks.  

A genetic counselor can explain to parents the likelihood of a genetic abnormality being passed to their child and what kind of prenatal testing is available for diagnosis. 

Before meeting with a counselor, gather as much information as  you can from both your parents and the father’s parents about family medical history. Some potential questions they may ask include:

• Has anyone in the family had to receive special care for genetic abnormalities? 
• How did your grandparents die? 
• Did anyone in the family die at a young age? 
• Do you have a family history of inherited disorders such as Tay-Sachs disease, sickle cell anemia or cystic fibrosis. 

Testing may include amniocentesis, chorionic villus sampling and high resolution ultrasound, which can detect disorders before birth. 

Your genetic counselor can explain the test procedure, the test results, and the general outlook for the child born with particular birth defects. They can also explain any treatment that may be required at birth and throughout the child’s life. 

Genetic tests are not without risks, and amniocentesis and chorionic villus sampling carry a risk of miscarriage or preterm labor. 

These tests are not part of routine prenatal care and you must carefully consider the risk versus benefit of having the studies done. You will  need to make decisions regarding continuing or terminating the pregnancy, and about caring for the child’s needs after birth.

These decisions should be made with your partner or support person after discussion with the genetic counselor and your provider. It is stressful to discuss birth defects and make complex decisions about the future. Write down as much information as possible as you may forget what was said and can refer back to your notes later.  

Only you can decide what is best for you and your baby and prepare for caring for your child with unique needs when he or she arrives. Gather as  much information as  you can and make your decisions carefully.

Your genetic counselor will be a great resource for support groups and healthcare services available in your area.