Considering having a child when you have sickle cell disease can be scary. It’s natural to worry if you’ll pass on your condition to your child, or if you’ll have trouble with fertility. But genetic testing and reproductive options can help you take control of your journey to parenthood.
Here are some things to think about if you have sickle cell disease (SCD) and are considering having a child.
Genetic Testing
A person needs to get two copies of the sickle cell gene (one from each parent) to have sickle cell disease. However, some people without sickle cell disease can still have one copy of the gene. This is called having the sickle cell trait.
It's important for each parent to get screened even if they don't have sickle cell disease, because they still might be able to pass on the gene. Carrier screening can help you figure out how likely this is.
Process
- Consultation: The process starts with you meeting with a healthcare provider or genetic counselor. They will ask about you and your partners’ family history and figure out if carrier screening is right for you.
- Testing: The doctor will take a blood sample to test for the sickle cell gene. This can usually be done through a simple blood draw.
- Results: You’ll usually get your results in a few weeks. If the potential parent without SCD is a carrier of the gene, you’ll be referred to a genetic counselor to talk about next steps.
- Genetic counseling appointment: A genetic counselor is a person trained to help you understand the results of genetic testing and your options based on those results. During your appointment, they’ll tell you what the carrier screening results might mean for having a child and your options for reducing any risks.
You’ll work with the genetic counselor to make an informed decision about your next steps. Below are some options you can explore if you want to have a child.
Fertility Options for Couples with Sickle Cell Disease
If you, your partner, or both of you have sickle cell disease or the trait, there are options. These reproductive technologies and options can help you reduce – or entirely get rid of – the risk of passing SCD on to a child.
All these options have their pros and cons. With the guidance of a genetic counselor and your doctor, you’ll be able to choose which is right for you.
Preimplantation Genetic Diagnosis (PGD)
Preimplantation genetic diagnosis (PGD) is a type of in vitro fertilization (IVF). It lets you choose to use only embryos that don’t have sickle cell disease.
Process
- IVF: Eggs are retrieved from the female partner and sperm is collected from the male partner. The eggs are then fertilized with the sperm in a laboratory to create embryos.
- Embryo biopsy: A few cells are removed from each embryo at the blastocyst stage, which is usually around five or six days after fertilization.
- Genetic testing: The removed cells are tested for the sickle cell gene.
- Embryo transfer: Only embryos that don’t have the sickle cell gene are chosen for transfer into the uterus. You won’t use any embryos that have SCD or carry the trait.
Pros
- Can prevent SCD: Only using embryos that don’t have the sickle cell significantly reduces the risk of having a child with SCD.
- More control over outcomes: Because you screen embryos before implantation (or pregnancy), you have more control over the outcomes.
Cons
- Cost: PGD combined with IVF can be expensive. Not all insurance plans cover it.
- Ethical considerations: Some people may have ethical concerns about embryo selection and getting rid of embryos that carry the sickle cell gene.
- Emotional and physical strain: The hormone treatment for IVF can be physically difficult. It can also cause emotional stress, especially if it doesn’t result in a pregnancy.
Prenatal Testing
Prenatal testing happens during pregnancy. These tests determine whether the fetus has sickle cell disease or other genetic conditions. There are two main types of prenatal testing for sickle cell disease.
Chorionic Villus Sampling
Chorionic villus sampling (CVS) is a test done between the 10th and 13th weeks of pregnancy. A small sample of cells will be taken from the placenta, either with a catheter inserted through the cervix or with a needle inserted through the abdomen. The procedure usually takes about 15-30 minutes.
The cells taken from the placenta will then be tested for sickle cell and other genetic conditions.
Amniocentesis
Amniocentesis is a test done between the 15th and 20th weeks of pregnancy. In the test, a sample of amniotic fluid will be removed via a needle inserted through the abdomen into the amniotic sac. The doctor will use ultrasound to guide the needle and make sure it doesn’t hurt the fetus.
Amniotic fluid contains cells from the fetus. These will be tested for sickle cell disease and other genetic conditions.
Pros
- Early diagnosis: CVS and amniocentesis can diagnose SCD early in a pregnancy. This lets you make an informed decision about continuing the pregnancy.
- High accuracy: These tests are generally very accurate in finding genetic conditions.
Cons
- Risk of complications: Both CVS and amniocentesis have a small risk of miscarriage or complications.
- Invasive procedures: These tests are invasive (go into the body) and may cause discomfort or stress.
- Timing: CVS can only be done in the first trimester, while amniocentesis is usually done in the second trimester. This can affect your decision-making timelines.
Sperm or Egg Donation
Donor sperm or eggs can be used if you or your partner have SCD or if you have SCD and are trying to have a baby on your own. If the donor doesn’t have the sickle cell gene, it completely gets rid of the risk of passing on sickle cell disease.
In this case, the donor will be the child’s biological parent. Some people choose to use a donor they know. Others choose to use an anonymous donor, which means you won’t learn who they are and they won’t learn who you are.
Process
- Selection: Choose a donor who has been tested for sickle cell disease and other genetic conditions. Donors are usually screened through medical history, blood tests, and genetic tests.
- Donor IVF: If you’re using donor eggs, they’ll be fertilized with the male partner’s sperm to create embryos. If you’re using donor sperm, it will be combined with the female partner’s eggs to create embryos.
- Embryo transfer: Like with PGD, embryos can be tested for sickle cell disease before being transferred to the uterus.
Pros
- Eliminates genetic risk: If the donor isn’t a carrier of the sickle cell gene, using their sperm or eggs eliminates the risk of passing on SCD.
- Variety of options: If you’re worried about using your own sperm or eggs, using a donor can give you another option for parenthood.
Cons
- Cost: Using donor sperm or eggs can be expensive. You might need to pay for the donation, IVF, and potential legal costs.
- Emotional considerations: Having a child who is not biologically related to one parent can be emotionally or psychologically difficult.
- Availability: It can be hard to find a donor that meets your specific wants and needs.
Adoption
Adoption is a way to become a parent without any of the genetic risks of SCD.
Process
- Adoption agencies: You’ll work with adoption agencies to find a child to join your family. Agencies will also do background checks on you and make sure you’re ready to adopt a child.
- Matching process: The agency will match you with children based on various criteria, including health and background.
- Legal and home study: Someone will come to your house to do an in-depth interview and look at your living situation. You’ll then have to go through a legal process to make the adoption official.
Pros
- No genetic risk: Since an adopted child won’t be biologically related to you, there’s no risk of passing on SCD.
- Alternative path: Other fertility options still involve dealing with the genetic risk of SCD. Adoption gives you an entirely different path for parenthood.
Cons
- Long process: Adoption can be a long and complex process. It will involve legal, social, and emotional aspects.
- Potential for uncertainty: You may not always know all the details about an adopted child’s health history and background.
- Cost: Adoption can be expensive. The cost will depend on the type of adoption and potential legal fees.
Each of these options involves different steps and things to think about. Your choice will depend on your personal preferences, medical advice, and specific circumstances. Working with healthcare professionals can help you understand the options and make the best decision for you.