What is Carrier Screening?
Carrier screening provides you and your physician with information regarding your reproductive risks and how they may impact your children. By identifying each parent’s genetic risks, families can understand the chance that a child may or may not be affected by certain conditions.
What is a Carrier?
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). The diagram below demonstrates the inheritance pattern of an autosomal recessive disorder.
Carrier screening is a very useful family-planning tool. Whether you are pregnant or planning, carrier information is important to understand before your child arrives.
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.
How is Carrier Screening Performed?
Following the order requisition, Baby Genes will ship a sample collection kit to you or your physician. A buccal swab (cheek swab) will be collected from each individual and returned to the laboratory for testing. Results will be reported within 7-10 days.
If you would like to discuss carrier screening through Baby Genes with your medical provider, please present the Baby Genes Conversation Starter at your next appointment!