157185 - Reproductive Carrier Screening Seminar
- : Online
The seminar program covers the basic science of the clinical features of the three common disorders (Cystic Fibrosis, spinal muscular atrophy, fragile x syndrome). It will also cover counselling issues, test costs and logistics of expanded carrier screening.Relevance to General Practice
The most common chromosomal cause of birth defects and intellectual disability in children and adults is Down syndrome (trisomy 21), which accounts for 52% of all major chromosomal conditions currently
detected through prenatal testing. Other chromosomal conditions that are commonly screened for include Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13). Trisomy 18 and trisomy 13 are more severe conditions than Down Syndrome and are associated with a high rate of pregnancy loss or death in infancy. Women and their partners also have the option of being tested for changes in specific genes that can
result in their baby inheriting a specific genetic condition. This is called carrier screening. The most common genetic conditions in this group include thalassemia, cystic fibrosis, spinal muscular atrophy
and fragile X syndrome.