Undergo Carrier Genetic Screenings

Whether you're pregnant or considering pregnancy, taking a test to determine if you’re a carrier or if your partner is a carrier for any genetic diseases can help you prepare. Being a “carrier” means that even though you may not show signs of a disease, you could pass a disease to your child, though you do not suffer symptoms of the disease. If both you and your partner are carriers of a certain gene, then the risk of your offspring having full expression of that gene increases. Carrier genetic screenings are now a common part of pre- or early-pregnancy care. You can choose to be screened for more than 100 gene mutations. Decide what kind of testing you want done, undergo the simple test, and then choose how to move forward based on the results.

Steps

Deciding if You Should Get Tested

1. Get screened before you get pregnant, if possible. Ideally, undergo carrier genetic screening before you get pregnant. Your doctor should offer you and your partner this at your preconception visit; if they do not, ask about it specifically. Learn your family health history so that you can understand your risks. That way you can choose whether to pursue pregnancy and can proceed in the safest way.
2. Research your family's medical history. Some serious illnesses can be passed to your child even if you don't have symptoms; often, someone else in your family has had the illness. Find out the medical history of your parents, grandparents, and siblings. Look for the following conditions in your family history:
   • Cystic fibrosis
   • Sickle cell anemia
   • Thalassemia
   • Tay-Sachs disease
   • Canavan disease
   • Familial dysautonomia
   • Familial hyperinsulinism
   • Gaucher disease
   • Fragile X syndrome
   • Klinefelter syndrome
   • Duchenne muscular dystrophy
   • Turner syndrome
3. Get your partner tested, if necessary. Carrier genetic screenings check for diseases that are recessive – for your child to inherit the illness, they have to get the disease gene from both parents. This means that if both you and your partner carry the gene for an illness, even if you have no symptoms of it, then your child has a 1 in 4 chance of being born with the disease. Both parents can get tested together, if you’d like.
   • A common approach is to screen one partner first, then screen the other only if the first carries any disease genes. If only one parent is a carrier, the child will not inherit the disease.
4. Choose between at-risk and expanded carrier screening. Usually, people are only screened for those diseases for which they are at higher risk. This is based on ethnicity and family history. However, this approach is limited because many people are mixed-ethnicity, adopted, or do not know their family history. In this case, consider expanded carrier screening. You’ll be tested for over 100 different diseases, rather than only for what you’re specifically at risk.
5. Weigh the pros and cons of undergoing genetic screening. There are pros and cons to undergoing genetic screening, and it is important to consider them carefully before you decide.
   • Some of the benefits of getting tested might include reducing your anxiety about passing on a certain disease to your offspring, having the opportunity to change your lifestyle if you know you are at risk, and helping you decide if you want to move forward with family planning.
   • Some of the negatives may include having a strong emotional reaction, such as anger, guilt, depression, or anxiety about getting or passing on a certain disease. You might also see the financial aspect as a negative since many insurance companies don’t cover the testing.

Completing the Screening

1. Ask your insurance company if the procedure is covered. Some American insurance companies consider genetic screening part of prenatal care, but others consider it optional. Call your health insurance company and find out whether or not they cover carrier genetic screening. If so, it may be free for you. If not, the out of pocket cost may be several hundred dollars.
   • The cost and availability of screenings may vary by country. Ask your doctor or insurance company for details about cost and payment options.
2. Locate a testing center. Most likely, your doctor or OB/GYN can perform the test in their office. If not, they will probably be familiar with local professionals who can perform the screening. Ask for suggestions; they may even provide a referral.
   • Medical Genetics programs also offer carrier screenings.
   • Some companies offer mail-order services. Because of the risk of user error, it’s better to get the test done by a professional. The results should always be read by a trained medical professional.
3. Give a blood or saliva sample. The test itself is relatively simple, easy, and painless. You will be asked to give a sample of blood or saliva. Your genes will be evaluated from this sample.
   • You will get results in about 2 weeks.

Coping with Being a Carrier

1. Speak with a genetic counselor. You may feel upset if you and your partner are carriers of a disease. Before making any major decisions about parenting, talk to a genetic counselor. They can help you understand the disease and your options for childbearing.
   • For help choosing a genetic counselor in the United States, visit the website nsgc.org. They also offer an international contact list.
2. Consult a medical geneticist. Medical geneticists are doctors who are specially trained in genetics. They can be a valuable tool when considering your family planning, or coping with a potentially difficult pregnancy. Ask your OB/GYN or genetic counselor for a referral.
   • You can find a medical geneticist in the U.S. through an online tool offered by the American College of Medical Genetics and Genomics. Other search engines may exist in your country, so try an online search.
3. Research getting pregnant by alternate means. If you learn you’re a carrier before you get pregnant, you may want to consider getting pregnant by non-traditional means. Talk to your doctor about artificial insemination or in vitro fertilization. Sperm from a non-carrier donor will be used, eliminating the risk of passing on the disease you and your partner carry. If you choose IVF, be sure to have pre-implantation genetic diagnosis.
4. Think about adopting a child. Some couples decide not to have children if they carry the gene for a serious disease. Instead, consider adopting a child. Many children in this world need loving homes, and adoptive parents have more options than ever before.
5. Pursue diagnostic testing. If you are pregnant and find out you’re a carrier, consider getting diagnostic testing done like amniocentesis or chorionic villus sampling (CVS). Tell the doctor what disease gene you’re looking for, and they can determine whether your child has those genes. Knowing early that your child has the disease can help you get them treatment as soon as possible.
   • Amniocentesis tests the amniotic fluid in your uterus, and is usually done between 16 and 20 weeks of your pregnancy.
   • CVS tests cells from your placenta. It can be done earlier than amniocentesis, at around 10 to 13 weeks of your pregnancy.

Tips

• Different tests may be more readily available, or even mandatory, depending on where you live. For instance, screening for cystic fibrosis is commonly offered in the United States, Italy, and Australia; beta-thalassemia screening is common in Cyprus, Turkey, Israel, and Sardinia.

Sources and Citations

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