Knowledge Is Key in Preconception Genetic Testing
The road to pregnancy is full of unknowns, and when you are considering starting or growing your family, there are plenty of distractions to worry you. Preconception genetic testing, also known as carrier screening, can empower you before pregnancy with a clearer understanding of your genetic blueprint as an individual or a couple, and can provide clues about what it might mean for your baby.
Laurel Fertility Care follows the recommendation from the American College of Obstetricians and Gynecologists that all patients receive information about preconception genetic testing. We recommend testing for all patients, which normally requires a sample of blood or saliva from both partners. Even if you have no family history of genetic disorders, carrier screening is encouraged. Often, someone is a “silent” carrier of a genetic condition, meaning they don’t know they are a carrier. Approximately 80 percent of children who develop a genetic disorder have no family history of the condition.
Decoding what is unknown through preconception genetic testing
Carrier screening before pregnancy means proactively learning about your genetic makeup. Before screening, we will learn about your family history and will make you aware that some of the diseases screened for are more prevalent in certain ethnic populations. The screening includes many common genetic diseases you’ve likely heard of.
- Cystic fibrosis
- Spinal muscular atrophy
- Fragile X syndrome
- Sickle cell disease
- Tay-Sachs disease
It’s helpful to revisit basic biology to understand carrier screening because many of the conditions the test includes are recessive disorders. Each parent has two copies of a gene in their makeup, one from their mother and one from their father. If you have one working copy of a gene, and one nonworking copy, you would not be affected by a recessive condition because the nonworking copy must show up in both genes for a recessive disorder to manifest. This is why people unknowingly carry genetic disorders, but are not affected by them.
Preconception genetic testing can unlock important information, especially if both partners are carriers of the same genetic condition. If so, you can act in partnership with a Laurel Fertility Care reproductive endocrinologist to increase your odds of conceiving and welcoming a healthy baby. This might include considering IVF using preimplantation genetic testing (PGT).
Empowering patients with carrier screening before pregnancy
The unexpected is expected in life, especially when preparing for pregnancy. One way to ease uncertainty is using preconception genetic testing, which empowers patients to get a clearer genetic picture, resulting in informed decisions about family planning. At Laurel Fertility Care, we want to partner with you to grow your family-building dreams. Contact us for more information.
