When you first think about conceiving, it is important to do your research and dispel the many common misconceptions that exist in our culture about pregnancy, especially in regard to genetic disorders and testing. Although pregnancy seems to be common knowledge that many believe they understand, not everyone is an expert. Remember that the only people who can provide the most reliable information are your doctor and a genetic counselor. If you are thinking about getting pregnant or are already pregnant, but have questions about your genetic carrier status, check out the common myths below and speak to your prenatal healthcare team if you have any questions:
1. Myth: No one in my family has a genetic disorder, so I will not have a child with a genetic disorder.
False: Just because you or anyone in your family do not have an inherited genetic disorder does not mean that you (or your partner) do not carry the gene for a genetic disorder. Many people can be carriers, but if their partner isn’t also a carrier, you may not see a particular genetic disease inherited in their offspring. It’s important that parents get tested for carrier status to know the potential risk that the child will have a particular genetic abnormality. This can be done through a genetic carrier screening that requires only a simple blood draw.
2. Myth: If you test negative as a carrier for a genetic disorder, you will not have a child with a genetic disorder.
False: If you test negative as a carrier for a genetic disorder, it’s still possible to have a child with a genetic disorder. Genetic carrier testing can only let you know your risk of having a child with a particular genetic disorder, but it cannot guarantee that your child will be born without one. Some genetic mutations can arise spontaneously in any normal pregnancy, even when neither parent is a carrier of the genetic abnormality.
3. Myth: Male children are more susceptible to inherited genetic abnormalities.
True: Different genetic diseases are inherited in different ways, however males can be more susceptible to inheriting genetic diseases than females because males have one X chromosome and one Y chromosome, whereas women have two X chromosomes. For a woman to experience symptoms of an X-linked genetic mutation (a mutation that specifically occurs on an X chromosome), she would have to inherit it on both X chromosomes. However, a male would only have to inherit it on their one X chromosome. Women do not have a Y chromosome and therefore also cannot inherit a Y-linked genetic disorder.
4. Myth: I don’t need to have genetic carrier screening or prenatal genetic testing because it doesn’t matter if you know your child is at risk for developing a genetic disorder — nothing can be done to help them until they are born.
False: Some couples who are not yet pregnant, but are found to both be carriers of the same genetic disorder can look into alternative options to conceive — including artificial insemination with preimplantation genetic screening (PGS) or egg/sperm donors. For couples who are already expecting, while there is no “cure” for a genetic disorder, there are many new treatments, therapies, and medications that can potentially ease symptoms for a fetus at risk for being born with a genetic abnormality. Pregnancy is valuable time that the family can use to prepare for the unborn child’s needs, speak to experts, and secure adequate healthcare.
If you have any questions about the myths listed above or about your risk of having a child with a genetic disorder, speak with your doctor or genetic counselor today. They will be able to provide you with accurate, reliable information that you can use to make the best-informed decision for your family.