By Michelle Gilats, MS
Depending on which laboratory is used for screening, results may take typically two to three weeks. When your screening is performed, make sure to ask what the expected turnaround time will be and how the results will be relayed. It is not uncommon for individuals to become anxious during this time. It is important to remember that both partners must be carriers for the same disorder in order to have an affected child, and the odds of this occurring are less than 1%. You may need to call on your usual coping strategies to deal with the stress and anxiety you may be experiencing. You may find it helpful to contact your genetic counselor to discuss your concerns as well.
Before undergoing carrier screening, it is important to consider how you will use the information gained from the results. While we feel it is important for Ashkenazi Jews to be aware of these disorders and the option for screening, some people may decide that they do not want to have this information. If you are not yet in a relationship do you want to learn your carrier results now, or would you rather wait until you were in an established relationship? If you and your partner are both carriers, will it change how you would proceed with the relationship? If you are currently pregnant, would you make different decisions about the pregnancy based on your results, such as additional testing and/or termination? If not, would you still want to have the information just to be prepared for the birth, or would that cause you more anxiety through the remainder of the pregnancy. If you are not yet pregnant, would you consider other reproductive options if you have a risk of having an affected child? These are very personal questions that only you and your partner can answer, but you may find it helpful to speak with a genetic counselor or doctor to work through these issues.
This relates to the item above as well, and may depend on your current relationship status or stage in life. It is important to note that everybody carries genetic mutations that could lead to disease, so you are not alone. Being a carrier for an autosomal recessive disorder does not affect your own health, and your partner also must be a carrier for the same disorder in order for you to have an affected child. If you are found to be a carrier, it means that one of your parents is also a carrier, and your siblings have a 50% chance of being carriers as well. For this reason it is important to share your results with family members.
If you and your partner are found to be at risk for having an affected child, you will likely have many questions. Prior to screening you may want to consider what you would do if this occurred. When two partners are both carriers for the same condition, with each pregnancy they have a 25% (1 in 4) chance of having an affected child. Ask yourself these questions; Would you consider alternative reproductive options, such as adoption, sperm or egg donation, or pre-implantation genetic diagnosis or would you wait to do testing until you become pregnant (prenatal testing) to determine if the baby is affected? If so, what decisions would you make based on those results?
To answer some of these questions, you may want to learn more about the specific disorder for which your future children are at risk. Our website includes information about these different disorders, as well as links to additional resources. Learning about the symptoms, management and treatments of the disorder in question may affect the decisions you would make.