Carrier Screening in High-Risk Populations

Learn why carrier screening is especially important for Ashkenazi Jewish, French-Canadian, Cajun, and Mediterranean populations.

Some genetic conditions are more common in certain populations because of shared ancestry. Ashkenazi Jewish populations have higher carrier frequencies for Tay-Sachs disease, Canavan disease, Gaucher disease, cystic fibrosis, familial dysautonomia, and others. French-Canadian and Cajun populations also have higher rates of Tay-Sachs.

People of Mediterranean, Middle Eastern, or Southeast Asian ancestry may have higher carrier rates for beta-thalassemia. People of African descent have higher rates of sickle cell trait. Expanded panels often include these conditions.

If you know your ancestry, tell your provider or genetic counselor. You may be offered targeted screening even if you feel healthy, because carriers do not have symptoms.

Even people without known high-risk ancestry can be carriers. ACOG recommends that all people be offered cystic fibrosis and SMA screening regardless of ethnicity. Expanded panels add more conditions for everyone.

When both partners are from the same high-risk group, screening both partners is especially important.

References

• ACOG. Carrier Screening FAQ.
• National Library of Medicine. Tay-Sachs Disease. https://medlineplus.gov/genetics/condition/tay-sachs-disease/