Carrier Screening

Why Carrier Screening?

As you are planning for a pregnancy, it is important to understand genetic information about you and your spouse. Through carrier screening, you are able to identify genetic risks that may be passed down to your child. Action can then be taken during or after the pregnancy to ensure the best care for your infant.

Carrier screening is a genetic test used to determine if a person is a carrier of a recessive genetic disease, and provides information about reproductive risks prior to or during a pregnancy. Though most babies are born healthy, there is a small chance of having a baby with a severe genetic disease with every pregnancy. Carrier screening can help to inform about the health of your future children by predicting your chances of having a child with a genetic disorder.

Carrier Screening

Every individual has two copies of each gene within their body. You receive one copy from your mother and one from your father. The combination is what determines your characteristics. A carrier is someone that has one normal copy of the gene and one abnormal copy. Often times, carriers do not exhibit signs of health problems because they still possess one normal copy. It is common for individuals to be unaware of their carrier status.

However, being a carrier becomes very important when you have a child because this increases the chance your child will be affected by the disease. If two carriers of a particular disease have a child, there is a 25% chance that child will be affected by the disease (for autosomal recessive disorders). This diagram demonstrates the inheritance pattern of an autosomal recessive disorder.

Baby Genes Carrier Screening targets 105 genes that are clinically linked to 71 newborn metabolic conditions. Nearly all of these conditions have successful treatment options to enable the child to develop normally if detected early. As a parent it is important to understand the inheritance risks involved with your pregnancy and prepare appropriately in the event that your child is affected. If detected early, the child can be appropriately diagnosed and treated. Carrier screening provides proactive information that may potentially save your child’s life.