Medically reviewed by
Dr. Nicolette Natale
Doctor of Osteopathic Medicine
Suppose you or your partner will have a baby or plan to be pregnant. In that case, chances are you are wondering about health conditions that can be inherited by your baby, one condition being Sickle Cell Disease (SCD). Prenatal screening and tests may offer some comfort. However, if you are uninformed about the process, you may be left with more questions than answers. What do the tests do? How are they performed? Are there associated risks?
Ahead, your one-stop shop for learning about SCD prenatal genetic testing!
SCD is a group of red blood cell disorders that is inherited. Healthy red blood cells deliver oxygen throughout the body. A protein, hemoglobin, carries oxygen in red blood cells. In SCD, red blood cells are distorted because the hemoglobin is abnormal. This causes sickle cells to die prematurely and result in a constant state of red blood cell shortage. The red blood cells also clog blood flow, causing the onset of various health issues.
There are different types of SCD. The most common types of SCD are HbSS and HbSC. The type of SCD an individual has depends on the geneticcode for abnormal hemoglobin a person inherits. HbSS is called 'sickle cell anemia,' the most severe form of SCD. HbSC is a milder form and only requires the inheritance ofone gene. There is also HbS beta thalassemia, which can be one of two types. HbSD, HbSE, and HbSO are rarer forms of SCD and have varying severity.
People with sickle cell disease start to show signs early in life, usually around five months of age.
Symptoms of sickle cell disease may include:
The signs, symptoms, and effects can vary between patients with sickle cell disease and can change over time.
Fortunately, there is a way to test babies for SCD with early detection in prenatal genetic testing. The testing identifies genes inherited by the baby and sees if genetic problems develop in the womb. Two types of testing are available: amniocentesis and chorionic villus sampling (CVS).
Amniocentesis is performed between 16 and 18 weeks of gestation. The procedure involves inserting a needle into the pregnant person's abdomen to retrieve amniotic fluid. Cells taken from the sample will be grown in a lab and genetically tested. CVS is done earlier, around 10 to 12 weeks of gestation. The test retrieves a sample material from the developing placenta. Most CVS procedures are performed by placing a thin tube through the cervix. There is a CVS method similar to amniocentesis too.
Anyone can be a carrier of sickle cell disease. However, SCD is more common in individuals with specific ethnic backgrounds. Those ethnicities at highest risk include African, Mediterranean, Middle Eastern, Southeast Asian, or West Indian descent.
A simple blood test is done to see if carrier genes are detected. Pregnant and non-pregnant persons can be tested to see if they are a carrier or not. Testing is crucial if biological families have a history of SCD or carrying SCD. Most often, blood tests can be performed or referred by a person's health care provider.
The two types of screening for SCD are amniocentesis and CVS. Although screening provides the significant benefit of preparing for possible health-related issues with babies, there are associated risks. Although the chances are small, every parent considering SCD prenatal testing should be aware.
It is not usual to experience complications with amniocentesis. However, there is a small risk of miscarriage (1 in 100). Sometimes, there is an issue with cell growth in the laboratory, and additional samples may be needed. CVS, compared to amniocentesis, does have a higher risk of miscarriage. Since CVS is relatively new, there is a lack of further insight into this. There are minor cases where CVS may detect a false abnormality. Since other symptoms or results may not be in support the potentially false report, further testing may be required. A chromosome abnormality will go undetected in rarer cases, approximately 1 in 1,000.
SCD is relatively manageable, and patients with SCD can live full, happy lives while enjoying most activities as others. Treatments help make this possible by reducing pain, utilizing medical practices, and incorporating at-home treatments. Most treatment options follow themes like:
Growing research on stem cell transplantation for people with sickle cell disease is becoming more profound. A published medical journal found stem cell transplantations for sickle cell disease contributed to immune regulation and homeostasis. Allogeneic hematopoietic stem cell transplantation is the only known curative treatment for SCD. Patients can also experience bonuses of stem cell transplants. These bonuses include reducing adverse side effects of SCD, improving the overall quality of life, and reducing or eliminating the need for ongoing treatment.
The thought of your baby inheriting diseases can be frightening. However, solutions are available to ensure your family has a long, enjoyable life. Parents often think these solutions begin at prenatal screenings and tests, but you can take an earlier proactive step!
Cord blood banking is an easy and effective method of preparing to treat possible health conditions of your baby, like SCD. Storing umbilical cord blood for future use gives individuals access to critical stem cells needed for transplantation treatments. Find out today with Anja Health how you and your family can begin your cord blood banking process to secure brighter and possibly treatable futures!