Genetic Screening for African Americans

Preconception Genetic Screening for African Americans Helps Determine Whether Parents are Carriers of a Genetic Disease

When you decide you’re ready to have a baby, there are some things you may want to consider, including having bloodwork to determine your risk of passing inheritable diseases on to your child. At New York Fertility Services, we encourage African American genetic screening, also known as preconception carrier testing.

What is a Carrier?

When we discuss African American genetic screening, we talk about certain people being “carriers” of defective genes. A carrier is not a sick person and does not have the actual disease; in fact, without testing, it is impossible to know that a person is a carrier of a certain disease.

Carriers have a defective gene for a disease like sickle cell anemia, but it only becomes a problem if that carrier conceives a child with another person who is also a carrier for that disease.

How does this work? According to Dr. Joel Batzofin, New York Fertility Services Medical Director, if both parents carry a defective gene, and they conceive a child, there is a:

  • 25 percent chance, or 1 in 4, that their child will have the active disease.
  • 1 in 2, or 50 percent chance, that their child will actually carry the defective gene.
  • 1 in 4, or 25 percent chance, that their child will not have the active disease, nor will the child carry the defective gene.

African Americans Have a Higher Risk for Certain Diseases

At New York Fertility Services, we know that certain diseases occur more frequently in African Americans than in other ethnic and racial groups, which is why we recommend African American genetic screening. African Americans are at higher risk for:

  • Sickle-cell anemia
  • Beta-thalassemia

The Process of Genetic Screening for African Americans

Preconception genetic screening for African American is actually a simple process. We begin by collecting a blood sample from just one partner at our New York Fertility Services Manhattan fertility clinic. We submit the sample to a third-party lab for testing. We encourage our patients to get expanded carrier screening, which tests DNA for 200 different genetic conditions, including sickle-cell anemia and beta-thalassemia.

If the first partner’s screening shows that he or she is a carrier of a defective gene, we will test the other partner.

What Happens When We Receive the Screening Results?

If neither or you, or even if only one of you, carries a defective gene, New York Fertility Services doctors will begin to formulate your conception and pregnancy plans, and you will have the peace of mind of knowing that you have been screened.

However, if your African American genetic screening shows that both partners are carriers for a certain disease and carry defective genes, New York Fertility Service will offer you preimplantation genetic diagnosis (PGD). We use this state-of-the-art technology to help us determine which embryos are unaffected by the defective genes, and we transfer these chromosomally normal embryos during your IVF cycle.

In order to do PGD, we need to collect one cell from the developing embryo(s) on the third day after fertilization. Next, in the IVF lab, we use genetic probes to look for the DNA for the single gene defects found during the African American genetic screening. Finally, on the fifth day, we transfer the chromosomally normal embryo(s) to the uterus, or we cryopreserve them for use in future IVF cycles. Research shows that the embryo or the fetus does not suffer any adverse effects during PGD.

Contact us to learn more about African American genetic screening and PGD. New York Fertility Services wants to help you make these important decisions, so we offer complimentary consultations, as well as educational events. Our goal, and yours, is to conceive a healthy child—let us help you create the family you desire.