Case History
Shonda is 28 years old and at 12 weeks gestation in her first pregnancy. She read about expanded carrier screening (ECS) in a magazine. She was adopted and doesn't have information about her family medical history or ancestry, so she is worried about genetic risk that she may not know about. Shonda wouldn't change the course of the pregnancy (i.e., termination) based on the results, but wants to be prepared if her baby needs to be treated for disease during the pregnancy or at birth. The father of the baby is involved and willing to be tested too. The couple has the resources to pay for testing if insurance doesn't cover the cost.
Question
You want to review benefits and limitations of ECS with Shonda. However, you have limited time, and you don’t want to overwhelm the patient with technical details. Review the list of benefits and limitations of ECS with Shonda’s motivations, goals and medical history in mind.
Select two benefits and two limitations that you feel are most relevant to discuss with Shonda.
Answer Summary
All of the benefits and limitations of carrier screening should be considered, but some will be more relevant to a specific patient's situation, goals and expectations.
Primary benefits for Shonda:
Knowledge of a patient's ancestry is not required. Shonda does not have any information about her family, including ancestry. Expanded carrier screening is designed to be appropriate for individuals of all ethnicities. The panels typically include conditions on ethnicity-based panels (e.g., cystic fibrosis, hemoglobinopathies, and Tay -Sachs disease) as well as conditions for which there is not yet consensus among different professional organizations regarding inclusion in reproductive carrier screening (e.g., fragile X syndrome).
Assesses a larger number of conditions that could impact reproductive decisions and newborn care. Shonda shared that her primary motivation for pursuing ECS is to learn whether her baby would benefit from early treatment.
Primary limitations for Shonda:
Most conditions included are not treatable. You should help Shonda to understand that ECS can include conditions with a variety of outcomes, including severely disabling and/or life-limiting conditions that have no treatment.
Includes later onset and less severe conditions, which may be less informative for reproductive decision-making or newborn care. For example, some panels may include diseases such as thrombophilias or hereditary hemochromatosis that may not have health implications in childhood and may have a milder course. Some laboratories allow customization of the panel, such that specific conditions or categories of disease can be excluded. Your role is to help Shonda decide what types of information will be useful to her in this pregnancy.