5 Reasons Why Preconception Carrier Screening Is Important

by NxGen MDx

There are many things to take into consideration when planning to start a family. As technology advances, genetic testing prior to pregnancy is becoming much more common. One example of genetic testing is carrier screening, a tool that can help determine if you or your partner is a carrier of an inherited genetic condition that you could pass on to your child. You can be a carrier without having the condition itself; in fact, each of us carries a genetically inherited condition, any one of which we can pass on. Here are some reasons why this type of testing is important prior to a pregnancy.

Carrier screening gives insight into your pregnancy
Knowing your carrier status allows you to plan for an increased genetic risk in pregnancy and helps guide pregnancy decisions down the road. It is a vital part of family planning which anyone can utilize.

It gives you family planning options
If you are a carrier, you have options, such as partner testing, pre-implantation genetic diagnosis (PGD) to determine if an embryo is affected with the condition(s), taking additional care during pregnancy, and education regarding the diagnosis and treatments available after birth

It detects unknown genetic conditions
80% of individuals that are born with a genetic condition have no known family history of the condition (Genetic Disease Foundation, 2010). You might say “Genetic disorders don’t run in my family,” but the fact is that many carriers of genetic disorders don’t show any symptoms and go undetected.

Screening reduces your anxiety about pregnancy
If you have a family history of a condition, carrier screening prior to pregnancy can provide the assurance that you are not a carrier of the condition or, if you are a carrier, that you have the resources to put a plan into place.

It helps your relatives in their family planning
Discovering your carrier status can benefit the family planning of your relatives, too. A carrier is likely to have family members who carry the same condition. Full-siblings have a 50% chance of carrying the same condition and half-siblings have a 25% chance.

1. The Genetic Disease Foundation (GDF) encourages Americans to know their genes at knowyourgenes.org in observance of world rare disease day (2010, February 28). In PR Newswire.