The Family Prep Screen (FPS) analyzes your genes to determine if you may be a carrier for particular recessive genetic disorders. The FPS, as prescribed by your doctor, can detect over 100 health conditions that can be passed unknowingly from parent to child, including: α/β-Thalassemia, Cystic Fibrosis, GJB2-related Hearing Loss, Fragile X Syndrome and Spinal Muscular Atrophy (SMA). A full list of diseases is available upon enquiry.
Genes are hereditary material babies inherit from their parents, which pass along family characteristics such as hair and eye colour, including genetic diseases, even if the parents do not display the disease, which in the case, they are known as carriers.
A carrier is someone who has only one gene with a mutation and one gene that is unaffected. Carriers are typically symptom-free and do not know that they carry a mutation. Recessive genes are caused by changes (mutations) in a person’s genes. Every person has two copies of each gene, one inherited from each parent. A recessive disease occurs when both copies of the same gene have a mutation. Some of the diseases on the FPS are inherited differently – only the female needs to be a carrier to have a baby at risk. Fragile X syndrome is a significant example of this.
When two parents are carriers of the same genetic disease, their children have a 1 in 4 (25%) chance of having that disease. For certain diseases, such as Fragile X syndrome, only the mother needs to be carrier for the child to have a high risk. Your medical professional is available to guide you through the various options to find out what is best for you. Knowing your carrier status before or early in your pregnancy gives you time to learn about the disorder and prepare.