Because certain genetic diseases appear with high frequency in the Jewish population, if both members of a couple who are planning to have a child are Jewish, it is best to get screened for carrier genes before you get pregnant.

If the two potential parents are found to be carriers for the same genetic disease, then there is a 25% chance, with each pregnancy, of having a child affected with that disease. This also means that there is a 75% chance with each pregnancy that the child will not have the disease, although the child may be a carrier like each of the parents.  Each pregnancy is an independent event, facing the same probabilities.

Your Options

There are several options available that allow a carrier couple to have healthy children together. Some couples may decide that 25% is too high of a risk to take on their own, and may prefer not to have biological children together. They may choose adoption, or they may choose to use an egg or sperm donor who is not a carrier for the same disease.

Other couples want to have their own biological children. There are a few different options here. Before pregnancy, a couple can choose to conceive via in vitro fertilization (IVF). Then, prior to implantation, the embryos are tested for disease status and only the unaffected embryos are implanted in the mother and allowed to grow and develop. This is called pre-implantation genetic diagnosis, or PGD for short. 

Testing During Prengancy

For those couples who choose to conceive on their own, there are two options for testing the developing baby during pregnancy. The first is called Chorionic Villi Sampling (CVS) and is performed between 10 and 12 weeks of pregnancy by taking a tiny sample of the villi, the tissue around the outside of the developing placenta. This tissue comes from the same fertilized egg as the baby, so it has the same genetic make-up.

The second option is called amniocentesis, and is performed around 16 weeks of pregnancy by removing a small sample of the fluid from the sac holding the developing baby. This fluid contains skin cells which are shed into the fluid, much like we shed skin cells when we take a shower. These skin cells contain the baby's genetic make-up and can be analyzed in a laboratory for disease status.

Both CVS and amniocentesis have small risks associated with them. Additionally, once the results are obtained, it is then up to the couple to decide whether or not they want to continue the pregnancy. CVS has a slight advantage over amniocentesis in that it is performed earlier in the pregnancy, such that if a baby is found to be affected with a disease, the decision of whether or not to continue the pregnancy can be made sooner in the pregnancy.

Plan Ahead

There are pros and cons to all of the options discussed, and risks and benefits for each procedure. It is strongly recommended that carrier couples meet with a genetic counselor, prior to pregnancy, to further explore these options. You can ask your doctor for a referral to a genetic counselor. Or, if you need help finding a genetic counselor in your area, contact the Victor Center for the Prevention of Jewish Genetic Diseases at 877-401-1093 or www.victorcenters.org.

It is important to remember that each couple is different, and it may take some time to think about all of these options before deciding what is best for you. Some may seek advice from family, friends, clergy, etc. about what to do.  Others may want to keep it private and just decide as a couple. Regardless, it is important to remember that you can have a healthy baby together.

The mission of the Victor Center for the Prevention of Jewish Genetic Diseases is to ensure babies are born free of life-threatening and preventable Jewish genetic diseases. For more information on the Victor Center or getting screened, visit www.victorcenter.org, call 877-401-1093 or email victorcenter@einstein.edu.

Faye Shapiro, MS, CGC

Faye Shapiro, MS, CGC, is a board-certified genetic counselor with over 15 years experience. As the genetic counselor for the Victor Center for the Prevention of Jewish Genetic Diseases, she provides genetic counseling for Ashkenazi Jewish genetic diseases to students, newlywed couples and other patients.