Possible results and implications

This result means that you are not a carrier of the variant(s) in the gene(s) analyzed and associated with one or more of the autosomal recessive hereditary diseases tested. So you do not need any special medical follow-up.

A “non-carrier” result is 99% or more reliable. Even if a person has received a “non-carrier” result, there is a a very slight chance that they are a carrier of a variant in a gene for an autosomal recessive hereditary disease. Indeed, it is still impossible to say that a "non-carrier" result is 100% reliable because the tests detect only the most common variants in the population.

This result means that you are a carrier of one or more variants in a gene associated with one or more of the autosomal recessive hereditary diseases tested. However, you do not have the disease associated with this gene and you will not develop the disease in the future.

If you turn out to be a carrier:

• Your partner becomes eligible for carrier screening, even if they were not eligible initially.
• Some members of your family have a higher probability of being carriers too, namely:
  • your children;
  • your brothers and sisters;
  • your cousins.

If these people are considering a pregnancy, it is best to inform them of your carrier status so that they can decide whether or not to do the tests.

You will be offered a medical genetics consultation if both partners are carriers of one or more variants in a gene associated with one or more of the autosomal recessive hereditary diseases tested. During the appointment, you will be given personalized genetic counselling and explore family planning options tailored to your situation. The family planning options available to you if both partners are carriers are as follows:

• decide to have a child with or without a prenatal diagnosis;
• explore assisted reproduction services, such as a sperm or egg donation, pre-implantation genetic testing or adoption;
• choose not to have children or not to have any more children.

Prenatal diagnosis

If you choose to have a child, prenatal diagnosis can let you know if the baby has the autosomal recessive hereditary disease associated with the genetic variant. Two methods are available:

• Chorionic villus biopsy (done between 11⁺⁰ and 13⁺⁶ weeks of pregnancy): This technique involves taking a small sample of the placenta through the abdomen or vagina. The placenta is analyzed to determine if the baby has any of the diseases tested.
• Amniocentesis (as of the 15th week of pregnancy): A fine needle is used to draw amniotic fluid from the pregnant woman's belly to determine if the baby has any of the diseases tested.

These methods will confirm whether the baby is affected, but carry a risk of complications.

If the baby is affected

If the baby has one of the autosomal recessive hereditary diseases tested, you can choose to continue or terminate the pregnancy. Each option is completely legitimate.

Some options, such as assisted reproduction services or adoption, can involve significant costs. During a medical genetics consultation, you will be able to discuss all the possibilities with professionals in order to make an informed choice tailored to your situation.

Making an informed choice

Making a choice in this type of situation can be difficult. Each decision is personal and can vary from one person to the next, from one pregnancy to the next. Medical genetics professionals will be able to support you and answer all your questions.