What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

Prenatal Diagnosis

Volumn 32, Issue 13, 2012, Pages 1318-1323

  Coron, F ^a   Rousseau, T ^a   Jondeau, G ^b,c   Gautier, E ^a   Binquet, C ^a   Gouya, L ^b,c   Cusin, V ^b,c   Odent, S ^d   Dulac, Y ^e   Plauchu, H ^f   Collignon, P ^g   Delrue, M A ^h   Leheup, B ⁱ   Joly, L ^a   Huet, F ^a   Thevenon, J ^a   Mace, G ^a   Cassini, C ^a   Thauvin Robinet, C ^a   Wolf, J E ^j   Hanna, N ^k   Sagot, P ^a   Boileau, C ^j   Faivre, L ^a   more..

^a UNIVERSITÉ DE BOURGOGNE   (France)

^b BICHAT HOSPITAL   (France)

^c INSERM   (France)

^d Service de Genetique et Centre de Reference Anomalies du Developpement et Syndromes Malformatifs   (France)

^e TOULOUSE UNIVERSITY HOSPITAL   (France)

^f HOSPICES CIVILS DE LYON   (France)

^g ASSISTANCE PUBLIQUE HÔPITAUX DE MARSEILLE   (France)

^h BORDEAUX UNIVERSITY HOSPITAL   (France)

ⁱ UNIVERSITY HOSPITAL OF NANCY   (France)

^j DIJON UNIVERSITY HOSPITAL   (France)

^k HÔPITAL AMBROISE PARÉ   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; FEMALE; HUMAN; MALE; MARFAN SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUESTIONNAIRE;

ADOLESCENT; ADULT; FEMALE; FRANCE; GENETICS, MEDICAL; HUMANS; MALE; MARFAN SYNDROME; MIDDLE AGED; PARENTS; PREIMPLANTATION DIAGNOSIS; PRENATAL DIAGNOSIS; QUESTIONNAIRES; YOUNG ADULT;

EID: 84870674890     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4008     Document Type: Article

References (18)

1. Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005;366:1965-76.
2. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47:476-85.
3. Détaint D, Faivre L, Collod-Beroud G, et al. Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J 2010;31:2223-9.
4. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337-9.
5. Arslan-Kirchner M, Arbustini E, Boileau C, et al. Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]. Eur J Hum Genet 2010;18. doi: 10.1038/ejhg.2010.42.
6. Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010;27:1-7.
7. Basille C, Frydman R, El Aly A, et al. Preimplantation genetic diagnosis: state of the art. Eur J Obstet Gynecol Reprod Biol 2009;145:9-13.
8. Loeys B, Nuytinck L, Van Acker P, et al. Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS) Prenat Diagn 2002;22:22-8.
9. Toudjarska I, Kilpatrick MW, Lembessis P, et al. Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis. Am J Med Genet 2001;99:294-302.
10. Sermon K, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis. Lancet 2004;363:633-41.
11. Ferraretti AP, Goossens V, de Mouzon J, et al. The European IVF-monitoring (EIM); Consortium, for the European Society of Human Reproduction and Embryology (ESHRE). Assisted reproductive technology in Europe, 2008: results generated from European registers by ESHRE. Hum Reprod 2012;27:2571-84.
12. Cameron C, Williamson R. Is there an ethical difference between preimplantation genetic diagnosis and abortion? J Med Ethics 2003;29:90-2.
13. Musters AM, Twisk M, Leschot NJ, et al. Perspectives of couples with high risk of transmitting genetic disorders. Fertil Steril 2010;94:1239-43.
14. Peters KF, Kong F, Hanslo M, Biesecker BB. Living with Marfan syndrome III. Quality of life and reproductive planning. Clin Genet 2002;62:110-20.
15. De Bie S, De Paepe A, Delvaux I, Davies S, Hennekam RC. Marfan syndrome in Europe. Community Genet 2004;7:216-25.
16. Farhi D, Bastuji-Garin S, Khosrotehrani K, et al. Neurofibromatosis 1: analysis of the demand for prenatal diagnosis in a French cohort of 361 patients. Am J Med Genet A 2008;146A:159-65.
17. Douma KF, Aaronson NK, Vasen HF, et al. Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis. Eur J Hum Genet 2010;18:186-93.
18. Goland S, Elkayam U. Cardiovascular problems in pregnant women with Marfan syndrome. Circulation 2009;119:619-23.