Marfan syndrome is a genetic disorder that affects the body’s connective tissue, leading to complications in the heart, eyes, blood vessels, bones, and lungs. It is caused by mutations in the FBN1 gene, which is responsible for producing fibrillin, a protein essential for connective tissue structure. Individuals with Marfan syndrome often exhibit distinct physical traits such as long limbs, thin fingers, a narrow face, and cardiovascular issues.
Marfan Syndrome Diagnosis
Diagnosis begins with evaluating the clinical symptoms, but a genetic test is required to confirm the presence of the FBN1 gene mutation. This genetic test provides critical information for managing the condition in the individual and assessing the risk for their offspring.
Preventing Transmission with PGD (Pre-implantation Genetic Diagnosis)
Marfan syndrome is inherited in an autosomal dominant manner, meaning that if one parent has the mutation, there is a 50% chance of passing the disorder to their children. However, with advances in reproductive technology, parents with Marfan syndrome can now prevent transmission to their offspring through PGD, also known as PGT-M (Pre-implantation Genetic Testing for Monogenic disorders). PGD allows embryos to be genetically screened during IVF treatments to ensure that only embryos free from the Marfan mutation are transferred to the uterus, significantly reducing the risk of passing on the syndrome.
At Nicosia Fertility, we offer PGD as part of our advanced fertility services, helping families affected by genetic conditions like Marfan syndrome have healthy children. This technology provides peace of mind for individuals concerned about passing on hereditary diseases.
If you or your partner is affected by Marfan syndrome and are considering fertility treatment, contact us at Nicosia Fertility to learn more about how PGD can help ensure a healthy pregnancy and child.
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