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Case Reports in Obstetrics and Gynecology
Volume 2013, Article ID 542961, 3 pages
http://dx.doi.org/10.1155/2013/542961
Case Report

Preimplantation Genetic Diagnosis in Marfan Syndrome

2nd Department of Obstetrics and Gynecology, “Aretaieion” Hospital, University of Athens, Vas. Sofias 76, 11528 Athens, Greece

Received 22 April 2013; Accepted 14 May 2013

Academic Editors: S. Z. A. Badawy, X. Deffieux, and I. Hoesli

Copyright © 2013 N. F. Vlahos et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Marfan syndrome (MFS) is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection. We describe a case of a 32-year-old Caucasian woman, clinically asymptomatic with MFS who presented for genetic consultation to prevent the transmission of disease to her offspring. She underwent controlled ovarian stimulation (COH), in vitro fertilization (IVF) combined with preimplantation genetic diagnosis (PGD), and a singleton pregnancy with positive fetal heart rate was revealed. At 34 weeks’ gestation she delivered vaginally a healthy premature male infant weighting 2440 gr. The patient remained asymptomatic during pregnancy, delivery, and 3 months postpartum. It is has to be mentioned that the availability of PGD is essential to prevent the transmission of disease to the next generation.