According to ACOG, what screening should be included for Ashkenazi Jews?

According to ACOG, what screening should be included for Ashkenazi Jews?

• A. Gaucher
• B. Cannavan
• C. Hemophilia
• D. Thalassemia

Answer: (B)

The correct screening included for Ashkenazi Jews according to ACOG is for Canavan disease. Canavan disease is a rare genetic disorder caused by a deficiency of the enzyme aspartoacylase, leading to an accumulation of N-acetylaspartate in the brain. It is a condition that is particularly prevalent among individuals of Ashkenazi Jewish descent, making screening crucial for couples planning to have children within this population. The rationale for focusing on Canavan disease involves both the higher carrier frequency within the Ashkenazi Jewish community and the goal of genetic screening to reduce the risk of passing on serious hereditary conditions. In this context, providing genetic counseling and screening options allows for informed reproductive choices among at-risk couples. While Gaucher, Hemophilia, and Thalassemia are also important genetic disorders, they do not specifically target the Ashkenazi Jewish population in the same manner as Canavan disease does in screening recommendations by ACOG.

The correct screening included for Ashkenazi Jews according to ACOG is for Canavan disease. Canavan disease is a rare genetic disorder caused by a deficiency of the enzyme aspartoacylase, leading to an accumulation of N-acetylaspartate in the brain. It is a condition that is particularly prevalent among individuals of Ashkenazi Jewish descent, making screening crucial for couples planning to have children within this population.

The rationale for focusing on Canavan disease involves both the higher carrier frequency within the Ashkenazi Jewish community and the goal of genetic screening to reduce the risk of passing on serious hereditary conditions. In this context, providing genetic counseling and screening options allows for informed reproductive choices among at-risk couples.

While Gaucher, Hemophilia, and Thalassemia are also important genetic disorders, they do not specifically target the Ashkenazi Jewish population in the same manner as Canavan disease does in screening recommendations by ACOG.