Frequently asked question: Can the fetus be tested for sickle cell disease during pregnancy?

Prior to the birth, you can have so-called chorionic villus sampling done around the tenth week of pregnancy. The sample of cells ( from the placenta) contains the fetus’ DNA, which can be examined. In cases of sickle cell disease, the test will specifically check for presence of the point mutation (which is responsible for HbS production). This prenatal test is done if the parents are carriers. Since carriers of HbS and HbC have a unique point mutation, the test can be specifically targeted on finding that point mutation.

Relevant medical information