Mothers and Genetic Screening: 5 Commonly Asked Questions

Questions and answers about genetic screening, just in time for Mother's Day.
May 4, 2021
Photo: Anastasia Gepp/Pixabay

Just in time for Mother’s Day, we talked with Gene Test Now’s licensed genetic counselor Daniella Kamara about some commonly asked questions regarding genetic screening for prospective mothers.

Q: I hope to be a mother some day. Why should I consider carrier screening?

Carrier screening is an important tool that can help empower couples with information to help them create their desired family. This type of genetic testing tells people what genetic conditions they carry, meaning they do not have the disease, but if their partner is a carrier for the same condition there is a 1 in 4 or 25% chance that they have a child born with that disease. As you can imagine, this information can be important when someone starts thinking about starting a family in order to make informed decisions.

Q: If I’ve already had a healthy child, do I need to consider carrier screening before having another baby?

Yes! As mentioned above, when two people are carriers for the same genetic condition there is a 1 in 4 chance they have a child born with that disease, which means 3 in 4 chance or 75% chance that they do not. Just because you have had a healthy child does not mean you are not a carrier for anything, therefore carrier screening can still be informative. Furthermore, if you had limited carrier screening before your first child, it is good to check in with your healthcare providers to see if more updated carrier screening is available.

Q: What if no one in my family has had a genetic condition?

Most genetic conditions are rare, so a lot of the times there isn’t a family history of genetic diseases and often, family members do not share if they were found to be a carrier for a particular disease even though this information would be important for the family to be aware of. Remember, the risk for having children with these conditions exists only with two individuals that are carriers for the same conditions, so if no one in the family has had children with someone who is a carrier for the same condition, we would not see a family history of the disease. For these reasons, carrier screening is still very important and informative.

Q: My mom was tested for Tay-Sachs when she and my dad got married. Why do I need to be screened?

When carrier screening first started, Tay-Sachs was the condition that most individuals were screened for and, luckily, genetic carrier screening has come a long way since then. Today, individuals undergoing carrier screening typically are tested for over 200 genetic conditions that can be seen in individuals of all different ethnic backgrounds and ancestries. So although your parents may have been screening for certain things before they got married, the information for the testing we do today is much more comprehensive and can provide further information for you and your partner.

Q: I did direct to consumer genetic testing, such as 23andMe or Ancestry. Do I really need genetic screening?

Yes! These types of genetic testing are not considered medical grade tests and although they can identify some carriers, they are not considered comprehensive and can sometimes even be inaccurate. Medical decisions and/or family planning decisions should never be made based on results from these types of genetic tests. Speaking to a genetic counselor or other healthcare provider is strongly advised.

An exclusive offer from Gene Test Now for Jewish Journal readers. Save $36 on an in-home genetic screening kit from JScreen. Click here to learn more about getting screened. JScreen tests for more than 200 genetic conditions, including those that are more common in individuals of Jewish ancestry, as well as diseases that are common across ethnic groups.

GeneTestNow.com is a nonprofit initiative of the Doris Factor Endowment Fund of the Jewish Community Foundation of Los Angeles.

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