Sickle Cell Anemia: Genetic Testing During Pregnancy
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June 19 was World Sickle Cell Day to spread more awareness about this disorder that greatly affects Black and Hispanic communities. Regardless of race, however, testing for sickle cell trait is common in my practice as a Nurse Midwife because it’s a simple blood test that can offer more information on the risk of passing on the disease to your baby. It is a genetic disorder that has to be inherited and does not develop after birth. Today, I wanted to discuss exactly what sickle cell anemia and trait is and explain what exactly the tests during pregnancy mean.
What is sickle cell anemia?
Sickle cell anemia is a blood cell disorder that affects red blood cells. Red blood cells are critical for transporting oxygen throughout your body and providing enough oxygenation to your vital organs. Normally, red blood cells are a circular shape and able to move through small blood vessels easily. With sickle cell anemia, the red blood cells take on a sickle or C-shaped or crescent moon shape and become hard and sticky. These cells do not travel through small blood vessels easily and often get stuck and clog the blood flow. Since these cells are not healthy, they also die early, which means someone with sickle cell anemia always has a shortage of healthy red blood cells. If oxygen is not moving properly through the body, this can cause severe pain and damage vital organs, ultimately leading to infection and even stroke. The median life expectancy for someone with sickle cell anemia is around the late 40s, but treatments have improved and extended this. However, those with the disease are often in and out of the hospital for complications.
What is sickle cell trait?
Having the sickle cell trait means that you can pass down the trait to your children or possibly have a child with the disease if your partner also has the trait. Most people with the trait live normal and healthy lives and are not subject to the symptoms of the actual disease. It’s important to know if you have the trait, however, because of the risk of passing it down to future generations.
I tested positive for the trait during pregnancy, now what?
Just because you test positive for the trait, it does not automatically mean that you will have a child with sickle cell anemia. We always test mom first because BOTH parents would have to have the trait for the risk of the disease to be present. If mom does not have the trait, there is no way the baby could have sickle cell anemia, so we stop there and do not test dad. However, if mom does have the trait, we request that dad also gets tested for the trait to receive additional information. If both parents have the trait, there is a 25% chance (1/4) that the baby will have sickle cell anemia. There is a 50% chance (1/2) that the baby will only have the trait, and there is a 25% chance (1/4) that the baby will have neither the trait or the disease. So it’s still not a guarantee that the baby will have the disease if both parents have the trait. Because of the risk, however, many couples who have a strong family history of sickle cell will choose to undergo testing before trying to conceive or even getting married. If both parents have the trait, they can consider undergoing an invasive procedure called an amniocentesis. This test collects a small sample of amniotic fluid by placing a needle into the womb and is performed during the second trimester. The cells in the amniotic fluid can then be tested in a lab to detect if the baby will have sickle cell anemia. There is a small chance of miscarriage, about 1 in 100, with doing this test.
What is the cure?
With the advancement of modern medicine, sickle cell can now be cured with a bone marrow or stem cell transplant. However, these procedures carry risk with serious and potentially deadly side effects. Also, the procedure can be expensive and requires a donor who is a close match.
I hope this resource provides more guidance when planning a pregnancy or more clarity when dealing with a positive sickle cell trait result. If you have any further questions, please feel free to leave them below or contact me directly.
xoxo, Global Midwife
Disclaimer: This is not medical advice, only education. Always check with your healthcare provider.