Fertility Blog

What Everyone Should Know About Ethnic-Based Genetic Screening Before Pregnancy

Ancestral PopulationGenetic DeseaseCarrier FrequencyDetection Rate\*
Allcystic fibrosisApproximately 4% in people of European (and Ashkenazi Jewish) ancestry and less common in other populationsApproximately 88% for Europeans, 94% for Ashkenazi Jewish ancestry, less accurate for others
Ashkenazi (Eastern European) Jewish ancestrycystic fibrosis, Tay Sachs, Canavan, familial dysautonomiaApproximately 3% for Tay Sachs, 2% for Canavan and 3% for familial dysautonomiaApproximately 94-99%, (depending on the condition tested)
African/African-American, Chinese, Southeast Asian, or Mediterranean ancestryHemoglobinopathies, such as sickle cell anemia and thalassemiaApproximately 10% of African-Americans are sickle cell carriers; 5-6% of Asians and 12% of some Mediterranean populations are thalassemia carriers.Variable depending on method, but very high (in the 90 percentiles)
\*See lab specific accuracies on test result
Posted on August 12th, 2009
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