Preimplantation Genetic Diagnosis in Marfan Syndrome
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 preve...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2013/542961 |
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| author | N. F. Vlahos O. Triantafyllidou N. Vitoratos C. Grigoriadis G. Creatsas |
| author_facet | N. F. Vlahos O. Triantafyllidou N. Vitoratos C. Grigoriadis G. Creatsas |
| author_sort | N. F. Vlahos |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-b897f7437d6c49dd93f4ae77c14af8bc |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-b897f7437d6c49dd93f4ae77c14af8bc2025-02-03T01:12:53ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922013-01-01201310.1155/2013/542961542961Preimplantation Genetic Diagnosis in Marfan SyndromeN. F. Vlahos0O. Triantafyllidou1N. Vitoratos2C. Grigoriadis3G. Creatsas42nd Department of Obstetrics and Gynecology, “Aretaieion” Hospital, University of Athens, Vas. Sofias 76, 11528 Athens, Greece2nd Department of Obstetrics and Gynecology, “Aretaieion” Hospital, University of Athens, Vas. Sofias 76, 11528 Athens, Greece2nd Department of Obstetrics and Gynecology, “Aretaieion” Hospital, University of Athens, Vas. Sofias 76, 11528 Athens, Greece2nd Department of Obstetrics and Gynecology, “Aretaieion” Hospital, University of Athens, Vas. Sofias 76, 11528 Athens, Greece2nd Department of Obstetrics and Gynecology, “Aretaieion” Hospital, University of Athens, Vas. Sofias 76, 11528 Athens, GreeceMarfan 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.http://dx.doi.org/10.1155/2013/542961 |
| spellingShingle | N. F. Vlahos O. Triantafyllidou N. Vitoratos C. Grigoriadis G. Creatsas Preimplantation Genetic Diagnosis in Marfan Syndrome Case Reports in Obstetrics and Gynecology |
| title | Preimplantation Genetic Diagnosis in Marfan Syndrome |
| title_full | Preimplantation Genetic Diagnosis in Marfan Syndrome |
| title_fullStr | Preimplantation Genetic Diagnosis in Marfan Syndrome |
| title_full_unstemmed | Preimplantation Genetic Diagnosis in Marfan Syndrome |
| title_short | Preimplantation Genetic Diagnosis in Marfan Syndrome |
| title_sort | preimplantation genetic diagnosis in marfan syndrome |
| url | http://dx.doi.org/10.1155/2013/542961 |
| work_keys_str_mv | AT nfvlahos preimplantationgeneticdiagnosisinmarfansyndrome AT otriantafyllidou preimplantationgeneticdiagnosisinmarfansyndrome AT nvitoratos preimplantationgeneticdiagnosisinmarfansyndrome AT cgrigoriadis preimplantationgeneticdiagnosisinmarfansyndrome AT gcreatsas preimplantationgeneticdiagnosisinmarfansyndrome |