Getting engaged and planning a wedding can be overwhelming. Aside from creating a to-do list for the big day, conversations also arise around finances and family planning.
As you enter this exciting new stage in your life with your partner, you also should discuss genetic testing — also called carrier screening. It empowers you and your partner with important health information that can guide decision-making for family planning. Having this information gives you some control over what can be a process filled with uncertainty.
We all have two copies of every gene in our body, one from our mother and the other from our father. Sometimes there is a mutation, like a typo, in a gene that can cause it to not work properly. Mutations can cause genetic conditions including cystic fibrosis, sickle cell anemia and Tay-Sachs disease. When a healthy individual inherits a mutation from a parent, they have one copy of the gene with the mutation while the other copy is normal. This person is called a carrier. We are all carriers for certain genetic conditions. Most of the time, this does not cause any concern — a carrier will not develop the disease.
Concerns may arise when both partners are carriers of the same condition, because that is when there is the risk of having a child affected with the condition. If both partners are carriers of the same genetic disease, there is a 1 in 4, or 25%, chance with each pregnancy of having a child with the condition. Regardless of the results, the information is vital to ensure partners are able to make informed decisions.
When both partners are carriers for the same condition, there are many options available for having a healthy baby, thanks to advancements in medicine and technology. These are big decisions that should not be rushed, which is why having time on your side is a huge benefit.
Not all genetic conditions have the same severity. Some are mild, and in these types of cases couples may choose to proceed with natural conception and pregnancy. Knowing this is still essential because the child can be tested at birth and necessary interventions or treatments can be started immediately. With other conditions that are more severe or untreatable, a couple may consider alternative methods of conception or pregnancy management.
There are various reproductive options available. These options fall into two categories: prevention before pregnancy and diagnosis during pregnancy. Decisions on how to proceed are personal and based on multiple factors specific to each couple. Seeking support, counseling and guidance through this process is essential.
Prevention options
• In vitro fertilization (IVF) with preimplantation genetic testing (PGT-M). This method uses the couple’s own eggs and sperm to create embryos. The embryos are tested for the disease and only unaffected ones are implanted.
• Use of donor egg or sperm from a noncarrier donor.
• Adoption.
Diagnosis during pregnancy options
• Genetic testing using chorionic villus sampling (CVS) or amniocentesis.
• If the fetus tests positive for a disease, parents may choose to use the information to prepare for the birth of an affected child or terminate the pregnancy.
Knowledge is power and knowing your carrier status is the first step in ensuring the health of your future family. There’s peace of mind in knowing. Discuss carrier screening with a genetic counselor or your health care provider.
Daniella Kamara is a genetic counselor at UCLA Health.
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