Genetic Testing and Pregnancy
What if we are both carriers?
If you and your partner are both carriers of the same recessive disease, there is a 25% risk that your child will be born with that disease. There is a 50% chance that your child will be a carrier with no symptoms of the disorder, and a 25% chance that your child will not inherit the gene mutation from either parent.
A genetic counselor can answer questions about your specific condition and advise you on the various family planning options available to you. Reproductive technologies such as in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) have enabled many carrier couples to have healthy children. Other couples choose to adopt, or to become pregnant and have prenatal diagnostic testing.
Your family planning decisions are a personal matter. A genetic counselor will provide support and information to help you make informed choices, but only you and your partner can decide what is best for your family's health.
What is prenatal diagnostic testing?
If you are already pregnant when you learn that you and your partner are both carriers of the same genetic disorder, remember that the odds are on your side. There is a 75% chance that your child will be born without the disease.
The next step is prenatal testing to determine whether the fetus is affected. The fetus's status can be diagnosed with a high degree of accuracy through either chorionic villus sampling (CVS) at 10-12 weeks of pregnancy or amniocentesis after the 15th week.
Results take approximately 1 to 3 weeks. Your physician or a genetic counselor can help you determine which test is appropriate for your particular situation.