WHAT GENETIC DISEASES CAN BE TESTED FOR?

                Genetic testing of embryos allows for the screening of inherited genetic diseases and disorders. Several conditions can be detected through preimplantation genetic testing (PGT).

1. SINGLE GENE DISORDERS

                  PGT can screen for single gene disorders caused by mutations in a specific gene, such as cystic fibrosis, sickle cell disease, and Huntington’s disease. By identifying embryos that do not carry the genetic mutation, parents can avoid passing on severe, life-threatening diseases to their children.

1. CHROMOSOMAL ABNORMALITIES

                      Abnormalities in chromosome number and structure lead to disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. PGT-A or preimplantation genetic testing for Aneuploidy, analyzes embryos for irregularities in chromosome count to determine which embryos have the normal 46 chromosomes.

• INHERITED CANCER SYNDROMES

               Some types of cancer are caused by inherited genetic mutations that increase the risk of developing certain cancers, such as breast cancer (BRCA genes) and Lynch syndrome. PGT can detect embryos with mutations in cancer predisposition genes so parents can choose to transfer unaffected embryos.

1. GENETIC CARRIER SCREENING

                                For those not known to be at high risk of passing on a genetic condition, expanded carrier screening (ECS) can check for a wide range of disorders to determine if parents-to-be carry gene mutations for diseases that could potentially affect their offspring. By identifying carrier status in advance of pregnancy or embryo transfer, parents gain valuable information to guide their family planning decisions.

                                PGT allows you to test for a variety of genetic diseases, disorders and syndromes to help ensure a healthy pregnancy and baby. The specific conditions screened for depends on family history and the types of tests available and selected. Discussing your options with a genetic counselor can help determine if genetic testing of embryos is right for your situation and which tests may be most beneficial based on your needs and priorities.