The risks of most genetic testing are more emotional than physical, says Ellen Simpson, Ph.D., a genetics counselor in the prenatal diagnostic center at the University of California, San Francisco Medical Center. It can be disappointing and incredibly stressful if you find out during preconception testing that your and/or your partner carry carry gene mutations that could be passed along to future children, and it may impact your decision to start a biological family. If both parents are carriers for the Tay-Sachs gene mutation, for example, that means each child has a 25 percent chance of having the disorder, which usually starts to show symptoms when a baby is 3 to 6 months old and generally results in death by age 4 or 5.
If a couple like that decides to have children, knowing about those genetic risks in advance can be key so the obstetrician can offer tests during pregnancy such as amniocentesis or chorionic villus sampling that can diagnose some genetic disorders as early as 11 or 15 weeks.
Once you're already pregnant, first- or second-trimester screenings for Down syndrome and other chromosomal issues can also be anxiety-inducing as well, since results aren't immediate and also aren't definitive. Those routine screenings tell you what the chances are that your baby may have a problem, but only amnio or CVS can tell you for sure.
Here are a couple of questions to ask yourself and your partner to help you determine if genetic testing is right for you:
1. How strong is your personal or family risk for genetic disorders?
You're more likely to need screening if you have a family history of mental retardation or cystic fibrosis, if you or your partner is of Ashkenazi Jewish descent or if both of you are Caucasian or European.
2. Do you have a hard time dealing with unknowns?
"Some people are comfortable with ambiguity," and can skip screenings without worrying, says Simpson. "One reason some couples don't want testing is that they don't want to put themselves into the position of having to make a decision about termination." If you feel most comfortable when you have all the information you can, screening may help put your mind at ease if everything looks fine -- or, allow you to prepare yourself to find support or specialized care for the baby if results show your child is at risk. "Some people feel just knowing there's a risk their child could be ill is enough preparation," says Simpson. "For others it really is helpful to connect with a support group or meet the doctors who will care for the baby after birth. Depending on what the condition is, you could also save the baby's life by delivering at a hospital with specialized facilities rather than a regular community hospital."
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