Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer.

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.