Marfan Syndrome and Preimplantation Genetic Diagnosis (PGD)

Marfan syndrome is a genetic disorder affecting connective tissue, which provides structure to the heart, eyes, blood vessels, bones, and lungs. A mutation in the FBN1 gene disrupts fibrillin production, weakening connective tissues. As a result, individuals often have long limbs, thin fingers, a narrow face, and a higher risk of cardiovascular problems.

For those with Marfan syndrome, the concern of passing the condition to their children is significant. Fortunately, Preimplantation Genetic Diagnosis (PGD) offers a reliable way to prevent transmission.

How Is Marfan Syndrome Diagnosed?

Doctors diagnose Marfan syndrome through clinical evaluations, physical examinations, and genetic testing. While symptoms provide clues, genetic testing confirms the FBN1 mutation, offering a clear diagnosis. Early detection helps affected individuals manage health risks and explore reproductive options.

Preventing Transmission Through PGD

Since Marfan syndrome follows an autosomal dominant inheritance pattern, a child has a 50% chance of inheriting the condition if one parent carries the mutation. However, PGD, also known as PGT-M (Preimplantation Genetic Testing for Monogenic Disorders), significantly reduces this risk.

How PGD Works

During an IVF cycle, specialists screen embryos for the FBN1 mutation before implantation. Only those without the mutation are selected, ensuring a healthy pregnancy and baby.

Why Choose PGD?

✔️ Reduces Genetic Risk – Prevents the transmission of Marfan syndrome to future generations.
✔️ Ensures Healthy Embryo Selection – Identifies embryos free of genetic mutations before implantation.
✔️ Provides Reproductive Freedom – Allows individuals with Marfan syndrome to have healthy biological children.

Why Choose Sakalli IVF for PGD?

At Sakalli IVF, we specialize in advanced genetic testing, providing families affected by genetic disorders with cutting-edge fertility solutions.

✔️ State-of-the-Art Genetic Screening – We use precision technology to identify embryos without genetic mutations.
✔️ Highly Experienced Team – Our embryologists and genetic specialists have extensive expertise in fertility treatments for genetic conditions.
✔️ Tailored Treatment Plans – Every patient receives personalized care, ensuring the best possible outcome.
✔️ Ongoing Support – We guide you through every step, from consultation to successful implantation.