Worrying About Birth Defects

All pregnant women worry about bearing a child with a birth defect, but some women have more reason to worry than others. If you are over age 35, have a history of bearing a child or children with a birth defect, or have a family medical history that puts your child at risk for inheriting a genetic disorder, your doctor will suggest that you consider genetic counseling and prenatal testing this month to determine the health of your baby.

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 mental retardation? Ask specifically about inherited disorders. These include Tay Sachs disease (which affects French Canadians and Middle European Ashkenazi Jews), sickle cell anemia (which affects African Americans and some Mediterranean Caucasians), thalassemia (which affects primarily Southeast Asians), and cystic fibrosis.

The genetic counselor will tell you all about amniocentesis and chorionic villus sampling, which can detect defects in the womb. She 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.

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.