If two people carry the same genetic mutation and have a child together, that child is at risk of a genetic disorder. Some of the more common mutations that result in disease are cystic fibrosis, spinal muscular atrophy, and sickle cell trait. However, current tests allow us to check over 100 mutations for each patient. Most children born with a genetic condition have no family history of that disease, since carriers are typically unaware they have a genetic mutation. These mutations are typically recessive, or ‘silent,’ in carriers with one mutated copy and one normal copy of the gene.
If both parents are carriers, the child has a 25% chance of inheriting the parents’ abnormal genes and having the disorder. There is a 50% chance the child will be a carrier of the disorder — like the carrier parent. There is a 25% chance the child will only inherit the normal genes. If only one parent is a carrier, the child has a 50% chance of becoming a carrier and a 0% chance of having the disorder.
We recommend all patients consider GCS at their first visit with their fertility doctor. GCS can be performed with one test that checks for over 100 genetic disorders that may affect your pregnancy, your baby’s health, and your family’s future. These tests can provide a couple with the most information before starting treatment or adding to their family.
Individuals are at increased risk of being carriers of a genetic mutation if they already have a child with a genetic disorder, there is a family history of a genetic disorder, or they belong to an ethnic group with a high rate of certain genetic disorders.
In addition to genetic testing, patients will receive genetic counseling to discuss the results. If a patient and partner learn they are both carriers, here are the options: