Carriers of a genetic disorder

Most children are born healthy.
However, things can sometimes turn out differently. For example, if you or your partner—often without knowing—are carriers of a genetic condition. Most carriers are completely healthy themselves but can pass on the condition to their child.

If both of you are carriers of the same genetic disorder, there are roughly three possible outcomes for your child:

• the child develops the disease,
• the child is a carrier without becoming ill,
• or the child is healthy and not a carrier.

Additionally, a spontaneous change can sometimes occur in a child’s DNA that does not come from either parent. This is called a de novo mutation. Unfortunately, this too can lead to illness or developmental issues.

Am I a carrier?

Most genetic conditions involving carrier status are either autosomal recessive or X-linked. Only when both biological parents are carriers of the same condition is there an increased risk that the child will be affected.

Some people have a higher chance of being carriers. This is referred to as a high-risk group. This includes couples who are blood relatives, or individuals from population groups where certain conditions are more common (see list below).

Want to know if you and your partner are at increased risk? Talk to us. In some cases, a carrier screening test may be available.

What does ‘being a carrier’ mean?

‘Carrier’ usually means someone has the genetic trait for a condition but does not develop symptoms themselves. However, with certain conditions—such as autosomal dominant or X-linked dominant disorders—a carrier may also develop the disease.

More information?

Visit:

• erfelijkheid.nl/kinderwens/ben-ik-drager
• amsterdamumc.nl/dragerschapstesten

Who is part of a high-risk group?

You may have an increased chance of being a carrier if:

• You or your (grand)parents come from Africa, the Caribbean, Suriname, countries around the Mediterranean (e.g. Turkey, Morocco), the Middle East (e.g. Syria, Iraq, Iran, Afghanistan), Sudan, China, Hong Kong, India, or Southeast Asia.
  → In these groups, carrier status for sickle cell disease, beta-thalassemia, and alpha-thalassemia is more common.
• You are part of the Ashkenazi Jewish community, or from Volendam, Urk, or Bunschoten-Spakenburg.
• You are in a relationship with a family member (such as a cousin).
• There are known hereditary conditions or carrier statuses in your family.

What does a carrier screening test cost?

A carrier screening test at Amsterdam UMC (AMC) costs €950 per couple.

Are you part of a high-risk group? Then you can be referred via us or your GP. The cost is covered by your health insurance but will count toward your deductible.
Note: the cost is billed to one person in the couple.

Not part of a high-risk group? Then you will need to pay the full amount yourself.

Why consider testing before pregnancy?

If you’re thinking about having a baby, it’s wise to consider whether there are any known genetic conditions in your family or your partner’s family. Carrier screening is best done before you are pregnant. This allows time for testing and—if necessary—for us to help you make a plan that fits your wishes and situation.

Carrier testing during pregnancy is also possible, but decisions may need to be made more quickly. Pregnancy can be an emotional time, which can make it harder to deal with unexpected results.

In the article NIPT, the 13-week scan and the 20-week scan, we explain which tests can be done during pregnancy to check for conditions or physical abnormalities in the baby. This is called prenatal screening.