What is carrier screening?¹

The American College of Obstetricians and Gynecologists (ACOG) defines carrier screening as a genetic test that can detect if you and your partner carry genetic mutations that can be passed on to your children.

Carriers are people who have these mutations, but they do not usually show any symptoms of the disease themselves. Carrier screening is recommended for all couples who are planning to have a child.

It can help you make informed decisions about your pregnancy, such as whether to undergo prenatal testing or not. Carrier screening can also help you identify family members who may be at risk for genetic diseases so that they can be tested and treated early.

Why should you get carrier screening?²

Carrier screening is a personal decision. You can choose to have it, or you can choose not to. The best decision for you will depend on your individual circumstances.

1 in 30 reproductive couples who undergo genetic carrier screening will discover they are carriers of a single gene condition. This means that there is a one in four chance of having a child with the condition for every pregnancy. It’s good to know your carrier status before pregnancy, so you can learn about all of your options early.

By undergoing genetic carrier screening before conception, you gain the advantage of exploring your reproductive choices without any time constraints.

If the screening reveals an elevated risk of passing on a single gene condition to your child, having ample time to consult with a fertility specialist or genetic counsellor becomes invaluable. You deserve the opportunity to carefully consider your options and make well-informed decisions with peace of mind.

What are the different types of carrier screening tests?³

There are 3 different types of genetic carrier screening available: Single condition screening, Three condition screening, and expanded carrier screening.

• Single condition screening screens for one specific genetic condition. This type of screening is often used to screen for conditions like alpha thalassemia that are common in a particular ethnic group.
• Three condition screening screens for three specific genetic conditions: cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS). These conditions are all serious and can cause significant health problems.
• Expanded carrier screening screens for hundreds of inherited conditions. This type of screening is often used to screen for conditions that are not as common, but that can still cause significant health problems.

It is important to talk to your doctor about the different types of genetic carrier screening so that you can decide which type is right for you.

How to do carrier screening in Singapore?

There are a few ways to do carrier screening in Singapore. You can:

• Talk to your doctor about carrier screening. Your doctor can order the test for you and help you understand the results.
• Go to a private genetic testing company.
• Get carrier screening through your workplace. Some employers offer carrier screening as a benefit option to their employees.

The cost of carrier screening varies depending on the company or clinic you go to. However, it is usually a relatively affordable test.

Here are some additional tips for doing carrier screening in Singapore:

• Ask your doctor about the different types of carrier screening available. There are a number of different tests that can be used to detect carrier status, and the best type of test for you will depend on your individual circumstances.
• Find out if your insurance covers carrier screening. Some insurance plans do cover the cost of carrier screening, while others do not.

References

1. Carrier Screening. ACOG. Available at: https://www.acog.org/womens-health/faqs/carrier-screening.
2. Understanding carrier screening for family planning. Mayo Clinic. Available at: https://www.mayoclinichealthsystem.org/hometown-health/speaking-of-health/carrier-screening-for-family-planning.
3. FAQ: Genetic Carrier Screening. UCSF Health. Available at: https://www.ucsfhealth.org/education/faq-genetic-carrier-screening.