Knowledge | Should You Have Genetic Screening Before Pregnancy? Experts Explain Its Benefits and Considerations
More prospective parents are considering genetic health when planning a pregnancy. New genetic screening technologies, including at-home tests, make it easier than ever to learn before pregnancy whether someone carries variants associated with certain inherited conditions.
Doctors generally recommend genetic testing when there is a family history of an inherited condition, such as cystic fibrosis. Wider screening has helped significantly reduce the incidence of inherited conditions such as Tay-Sachs disease.
But if you are not in a high-risk group, is genetic screening before pregnancy still necessary? Experts say the final decision should be made with a doctor or genetic counselor.
How genetic testing works
Most inherited conditions develop only when a person has two abnormal copies of a gene, one from each parent. A person with only one abnormal copy generally has no symptoms but can pass the variant to the next generation. A child is at risk of having the condition only when both parents carry a variant for the same condition.
Testing usually uses a saliva or blood sample. A doctor may collect a sample during a preconception visit and send it to a laboratory, while an at-home kit allows the person to collect and mail the sample. The laboratory analyzes DNA for genes associated with specific conditions. Standard testing usually screens for:
Cystic fibrosis
Fragile X syndrome
Blood disorders such as sickle cell disease
Tay-Sachs disease
Spinal muscular atrophy
Expanded carrier screening can now test genes associated with more than 400 conditions. Many are rare, and some currently have no effective treatment.
Who should consider screening?
If you or your partner has a family history of an inherited condition, doctors generally recommend testing both partners. Genetic risks also vary by ethnicity. For example:
People of Ashkenazi Jewish ancestry: Higher risk of Tay-Sachs disease and other conditions
People of African ancestry: Higher risk of sickle cell disease
People of Mediterranean or Southeast Asian ancestry: Higher risk of thalassemia
Even people outside these high-risk groups should consider the possible implications of the results before deciding whether to test.
Benefits and limitations of genetic screening
Genetic screening cannot determine with certainty whether a child will have a condition; it can only help doctors assess risk more accurately.
Potential benefits include:
Identifying potential risks: Testing can detect recessive carrier variants unrelated to ethnicity or known family history, allowing people to understand their risk earlier and make informed reproductive decisions.
Understanding family genetic background: This can be especially useful for people with an unknown family history or multiethnic background and may help identify previously unrecognized risks.
Simple testing: Preconception saliva or blood testing is quick and minimally invasive.
Potential limitations include:
Results are not completely accurate: All tests have a margin of error. False negatives and false positives can occur and may cause psychological stress.
Disease expression is difficult to predict: Even when a disease-causing variant is identified, a test cannot precisely predict whether a child will develop the condition, how severe it may be, or how quickly it may progress.
Questions to consider before deciding
Genetic screening can provide important information, but it is not right for everyone. Experts recommend considering the following before testing:
Emotional impact: Would knowing about carrier risk increase or reduce anxiety during pregnancy?
Effect on family relationships: Are you willing to share the results with relatives who may also be affected? This may create new conversations and stress.
Next steps: If the results identify carrier risk, how would you respond? Would further consultation be needed?
A genetic counselor can provide professional guidance, help families understand what the results mean, and discuss possible options. Doctors commonly refer patients to a genetic counselor to plan appropriate next steps.
Knowledge | Should You Have Genetic Screening Before Pregnancy? Experts Explain Its Benefits and Considerations
Knowledge | Should You Have Genetic Screening Before Pregnancy? Experts Explain Its Benefits and Considerations
More prospective parents are considering genetic health when planning a pregnancy. New genetic screening technologies, including at-home tests, make it easier than ever to learn before pregnancy whether someone carries variants associated with certain inherited conditions.
Doctors generally recommend genetic testing when there is a family history of an inherited condition, such as cystic fibrosis. Wider screening has helped significantly reduce the incidence of inherited conditions such as Tay-Sachs disease.
But if you are not in a high-risk group, is genetic screening before pregnancy still necessary? Experts say the final decision should be made with a doctor or genetic counselor.
How genetic testing works
Most inherited conditions develop only when a person has two abnormal copies of a gene, one from each parent. A person with only one abnormal copy generally has no symptoms but can pass the variant to the next generation. A child is at risk of having the condition only when both parents carry a variant for the same condition.
Testing usually uses a saliva or blood sample. A doctor may collect a sample during a preconception visit and send it to a laboratory, while an at-home kit allows the person to collect and mail the sample. The laboratory analyzes DNA for genes associated with specific conditions. Standard testing usually screens for:
Cystic fibrosis
Fragile X syndrome
Blood disorders such as sickle cell disease
Tay-Sachs disease
Spinal muscular atrophy
Expanded carrier screening can now test genes associated with more than 400 conditions. Many are rare, and some currently have no effective treatment.
Who should consider screening?
If you or your partner has a family history of an inherited condition, doctors generally recommend testing both partners. Genetic risks also vary by ethnicity. For example:
People of Ashkenazi Jewish ancestry: Higher risk of Tay-Sachs disease and other conditions
People of African ancestry: Higher risk of sickle cell disease
People of Mediterranean or Southeast Asian ancestry: Higher risk of thalassemia
Even people outside these high-risk groups should consider the possible implications of the results before deciding whether to test.
Benefits and limitations of genetic screening
Genetic screening cannot determine with certainty whether a child will have a condition; it can only help doctors assess risk more accurately.
Potential benefits include:
Identifying potential risks: Testing can detect recessive carrier variants unrelated to ethnicity or known family history, allowing people to understand their risk earlier and make informed reproductive decisions.
Understanding family genetic background: This can be especially useful for people with an unknown family history or multiethnic background and may help identify previously unrecognized risks.
Simple testing: Preconception saliva or blood testing is quick and minimally invasive.
Potential limitations include:
Results are not completely accurate: All tests have a margin of error. False negatives and false positives can occur and may cause psychological stress.
Disease expression is difficult to predict: Even when a disease-causing variant is identified, a test cannot precisely predict whether a child will develop the condition, how severe it may be, or how quickly it may progress.
Questions to consider before deciding
Genetic screening can provide important information, but it is not right for everyone. Experts recommend considering the following before testing:
Emotional impact: Would knowing about carrier risk increase or reduce anxiety during pregnancy?
Effect on family relationships: Are you willing to share the results with relatives who may also be affected? This may create new conversations and stress.
Next steps: If the results identify carrier risk, how would you respond? Would further consultation be needed?
A genetic counselor can provide professional guidance, help families understand what the results mean, and discuss possible options. Doctors commonly refer patients to a genetic counselor to plan appropriate next steps.
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