Objective: To develop and apply clinical preimplantation genetic diagnosis (PGD) for Marfan syndrome.
Design: Case report.
Setting: Centers for medical genetics and reproductive medicine in university hospitals.
Patient(s): One couple in which the husband was affected with Marfan syndrome.
Intervention(s): The couple underwent three intracytoplasmic sperm injection cycles.
Main outcome measure(s): The correct diagnosis was obtained for embryos in three PGD cycles.
Result(s): Although all the PGD cycles were followed by ET, no pregnancy ensued.
Conclusion(s): This assay can provide a reliable and accurate preimplantation diagnosis of Marfan syndrome.