Preventive measures for Kabuki syndrome

Kabuki syndrome refers to Kabuki syndrome or Kabuki mask syndrome. Generally, preventive measures for Kabuki syndrome include genetic counseling, gene screening, comprehensive premarital and pre-pregnancy physical examinations, avoiding consanguineous marriage, and prenatal care. If necessary, timely medical consultation is recommended. The details are as follows:

1. Genetic Counseling

Genetic counseling can assess genetic risks and provide scientific guidance for future reproductive plans, thereby reducing the risk of affected offspring.

2. Gene Screening

For families with a known history of Kabuki syndrome, gene screening can help identify individuals carrying the disease-causing gene, reducing the birth rate of affected fetuses.

3. Comprehensive Premarital and Pre-pregnancy Physical Examinations

Comprehensive premarital and pre-pregnancy examinations help detect potential genetic problems or other health issues, including checking whether both partners have chromosomal abnormalities or other factors that may affect reproductive health.

4. Avoiding Consanguineous Marriage

Individuals who are closely related genetically have a higher similarity in their genes and a higher probability of carrying the same recessive disease-causing genes. Therefore, avoiding consanguineous marriage can reduce the likelihood of occurrence of such genetic diseases at the source.

5. Prenatal Care

During pregnancy, mothers should maintain good prenatal habits, such as a balanced diet and sufficient intake of nutrients like proteins and vitamins, which can provide a solid material foundation for fetal development.

By implementing the above measures, the risk of developing Kabuki syndrome can be effectively reduced.