Inheritance of Li-Fraumeni Syndrome (LFS)
Li-Fraumeni Syndrome (LFS) is an autosomal dominant genetic disorder, meaning that it can be passed on from parent to child. Understanding the inheritance pattern is crucial for families affected by LFS.
Autosomal Dominant Inheritance
In autosomal dominant inheritance:
- One Copy of the Mutated Gene: Only one copy of the mutated TP53 gene is needed to cause LFS.
- 50% Risk: Each child of a parent with LFS has a 50% chance of inheriting the mutated gene and developing LFS.
Genetic Counseling and Family Planning
Genetic counseling is essential for families affected by LFS. A genetic counselor can:
- Explain Inheritance Patterns: Provide information about the inheritance of LFS.
- Assess Risk: Evaluate the risk of passing on LFS to children.
- Discuss Family Planning Options: Discuss options such as preimplantation genetic diagnosis (PGD) or prenatal testing.
For more detailed information on genetic counseling, visit our genetic counseling guide.
Preimplantation Genetic Diagnosis (PGD)
Preimplantation genetic diagnosis (PGD) is a reproductive technology that can be used to prevent the transmission of LFS to children.
- In Vitro Fertilization (IVF): Eggs are fertilized in a laboratory.
- Genetic Testing: Embryos are tested for the TP53 mutation.
- Selective Implantation: Only embryos without the mutation are implanted in the uterus.
Prenatal Testing
Prenatal testing can be used to determine whether a fetus has inherited the TP53 mutation.
- Amniocentesis: A sample of amniotic fluid is taken for genetic testing.
- Chorionic Villus Sampling (CVS): A sample of placental tissue is taken for genetic testing.
In summary, Li-Fraumeni Syndrome is an autosomal dominant genetic disorder with a 50% risk of being passed on to children. Genetic counseling and family planning options, such as PGD and prenatal testing, can help families make informed decisions.
