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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.

Learning outcomes
  • Understand the variation in risks of single-gene versus chromosomal childhood-onset disorders at different maternal ages.
  • Understand the medical consequences for carrier parent and affected child of mutations responsible for cystic fibrosis, spinal muscular atrophy, fragile X synd.
  • Appreciate the pros and cons of sequential testing (woman first, plus partner if indicated) versus simultaneous testing (both partners together).
  • Appreciate the benefits of testing before conception rather than in early pregnancy.
  • Be able to provide appropriate pre- and post-test counselling, and understand the referral pathway for couples identified as being at high risk of
  • Type
    157185 - Reproductive Carrier Screening Seminar
    Provider Type
    Education Provider
    3 hours
    Start Date
    CPD Points
    3 hours
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