Worrying About Birth Defects

Fact checked by Elisa Cinelli. Elisa is an expert on child behavior, certified in Positive Discipline, and the former Managing Editor for San Francisco Bay Area Moms.

Learn whether your baby is at risk for birth defects, and find out how genetic counseling could be beneficial to your pregnancy.
Birth Defects Risk and Genetic Counseling
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Worrying About Birth Defects

When you are pregnant, it's natural to worry about your baby's health. You may have concerns about whether your baby is growing correctly or whether they could be born with any birth defects. In some cases, such as if you are over age 35 or have a  family medical history of birth defects, your doctor may suggest that you consider genetic counseling and prenatal testing to determine the health of your baby. If anything is wrong, the screening can help you prepare to care for your child accordingly.

Getting Pre-Natal Genetic Counseling 

fetus genetic testing

Genetic counseling is a wonderful support program for couples who fall into a high-risk category for birth defects. A genetic counselor has advanced training in genetics, which is the study of how traits are passed on from parent to child. With this training, the counselor can explain the likelihood of a baby having a problem and the various prenatal tests available.

Before you meet with a counselor, make some phone calls to your parents or other relatives (and get your partner to do the same with his family!). Gather as much information as you can about family medical history. How did your grandparents die? Why did your cousin go to a special school? Has anyone in the family had a child with a birth defect or developmental delay? Ask specifically about inherited disorders. These include Tay Sachs disease, sickle cell anemia, and cystic fibrosis.

The genetic counselor will tell you all about amniocentesis and chorionic villus sampling, which can detect defects in the womb. A genetic counselor will also explain the outlook for a child born with birth defects as well as the treatments that might be necessary, both immediately after birth and throughout the child's life.

However, it is important to note that both amniocentesis and chorionic villus sampling is not risk-free and does pose some risk of miscarriage. CVS is an optional test that you may want to consider; however, it is not required as part of regular pre-natal care. 

A genetic counselor will not tell you what to do. She will tell you your options. She will give you the facts. She will answer your questions. But the final decision is up to you. If you should choose prenatal testing and find out that your child has a birth defect, you will have all the information you need to help you decide what to do next. Either you will need to prepare for a child with disabilities or make arrangements to end the pregnancy.

If you meet with a genetic counselor, bring your partner with you. You both need to hear information that can be easily mixed up in the retelling, and you both need each other for support. And at the end of the day, parents should remember that you cannot cure a chromosomal abnormality but you can gather information and prepare to meet your unique child when they arrive.