Project

Exploring the feasability of the implementation of preconceptional expanded carrier screening by general practitioners and gynecologists.

Code
bof/baf/3y/2024/01/021
Duration
01 January 2024 → 31 December 2025
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Genetic predisposition
    • Genetics not elsewhere classified
    • Genetics
  • Medical and health sciences
    • Molecular diagnostics
    • Family planning
    • Foetal development
    • Reproductive medicine
    • Genetics
    • Paediatrics
    • Molecular diagnostics
    • Family planning
    • Reproductive medicine
    • Preventive medicine
    • Primary health care
    • Family planning
    • Reproductive medicine
    • Paediatrics
Keywords
preconceptional gynecologists genetics general practitioners carrier screening
 
Project description

About 2% of children are born with a severe inherited disorder. This is usually caused because both parents are carriers of a mutation in the same gene; in this case, there is a one in four risk of having a child with this disorder in each pregnancy. Couples who wish to have children can find out if they have an increased risk of having a child with a recessive disorder through carrier screening. The Belgian genetic centers developed BeGECS (Belgian Genetic Expanded Carrier Screening), which analyzes more than 1,700 recessive genes. Over 700 couples were analyzed at the Centrum Genetica Gent; this showed that ~3% have a risk of having a child with a severe recessive disorder. At present, BeGECS is only offered through a genetic consultation. With this study we want to investigate whether offering BeGECS by general practitioners and/or gynecologists could be a feasible approach to implement this test in the broad population.