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

Coron, Fanny; Rousseau, Thierry; Jondeau, Guillaume; Gautier, Élodie; Binquet, Christine; Gouya, Laurent; Cusin, Véronica; Odent, S.; Dulac, Yves; Plauchu, H; Collignon, P.; Delrue, Marie Ange; Leheup, Bruno; Joly, Lorraine; Huet, Frédéric; Thévenon, Julien; Macé, G.; Cassini, C.; Thauvin‐Robinet, Christel; Wolf, JE; Hanna, Nadine; Shrivastava, Paul; Boileau, Cathérine; Faivre, Laurence

doi:10.1002/pd.4008

Cited by 15 publications

(6 citation statements)

References 19 publications

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“…Musculoskeletal tissues are some of the most obviously involved tissues in Marfan syndrome but these manifestations are often age dependent. Some musculoskeletal abnormalities, in fact, are absent or less evident during the skeletal growth and we agree with Dean [5] and with Coron et al [23] that the Ghent criteria are unreliable for children. In fact, as described in the revised Ghent criteria [4], clinical decision can be difficult in children.…”

Section: Discussionsupporting

confidence: 91%

Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases

Maio

Fichera

Luna

et al. 2016

Advances in Orthopedics

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Marfan syndrome is caused by mutations in the fibrillin-1 gene (FBN1). The most important features affect the cardiovascular system, eyes, and skeleton. The aim of this study was to report the most frequent musculoskeletal alterations observed in 146 patients affected by Marfan syndrome. Fifty-four patients (37%) underwent cardiac surgery and 11 of them received emergent surgery for acute aortic dissection. Ectopia lentis was found in 68 patients (47%) whereas myopia above 3D occurred in 46 patients (32%). Musculoskeletal anomalies were observed in all patients with Marfan syndrome. In 88 patients (60.2%), the associated “wrist and thumb sign” was present; in 58 patients (39.7%), pectus carinatum deformity; in 44 patients (30.1%), pectus excavatum; in 49 patients (33.5%), severe flatfoot; in 31 patients (21.2%), hindfoot deformity; in 54 patients (36.9%), reduced US/LS ratio or increased arm span-height ratio; in 37 patients (25.3%), scoliosis or thoracolumbar kyphosis; in 22 patients (15%), reduced elbow extension (170° or less). Acetabular protrusion was ascertained on radiographs in 27 patients (18.4%). Orthopaedic aspects of the disease are very important for an early diagnosis; however, we have not observed definite correlations between the extent of orthopaedic involvement and aortic complications.

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Section: Discussionsupporting

confidence: 91%

Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases

Maio

Fichera

Luna

et al. 2016

Advances in Orthopedics

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“…Disease severity was not associated with demand for prenatal diagnosis (Farhi et al 2008), a finding similar to this study. Findings are also comparable to a recent study of Marfan disease, a disorder also characterized by phenotypic variability, in which the majority of participants were in favor of prenatal diagnosis (Coron et al 2012). Of those participants who had affected children, similar to previous studies we found that mothers worried how the disease will progress (Hummelvoll and Antonsen 2013).…”

Section: Inheritancesupporting

confidence: 89%

The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults

Crawford

Barton

Wilson³

et al. 2015

Journal of Genetic Counseling

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The complications of neurofibromatosis type 1 (NF1) are widespread, unpredictable and variable and each person's experience of this disorder is unique. However, few studies have addressed the impact of NF1 from an individual's perspective. This qualitative study aims to identify the ways in which NF1 impacts upon affected Australian adults. Sixty adults with NF1, with a range of disease severity and visibility participated in a semi-structured interview about the ways in which NF1 impacted upon their life and health. Data were analyzed using grounded theory methodology. Results indicated that NF1 impacts upon affected adults in five major ways: 1) cosmetic burden of disease 2) learning difficulties 3) concerns about the risk of passing NF1 to offspring 4) uncertain disease progression, and 5) pain. Participants identified the aspects of NF1 that bothered them the most, creating a hierarchy of NF1 concerns within the cohort. Importantly, mildly affected adults shared many of the same concerns as those more severely affected. This study enhances our current understanding of the impact of NF1 in adulthood, and augments existing recommendations for the care of these patients.

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“…One of the more difficult debates by critics and family members of affected individuals has been the argument that selecting embryos without mutations diminishes the importance of people disabled by the diseases. 25,61,62 However, for most couples, the choice to proceed with PGD is not driven by these notions. Several studies have demonstrated that the decision to proceed with PGD is quite complex, encompassing many considerations, 63 with the consensus that most proceed with PGD to protect their future children against the suffering they witness in other family members.…”

Section: Ethical Considerationsmentioning

confidence: 99%

“…Several studies have demonstrated that the decision to proceed with PGD is quite complex, encompassing many considerations, 63 with the consensus that most proceed with PGD to protect their future children against the suffering they witness in other family members. 30,31,40,62 Critics have also warned against PGD practice moving toward a "designer child," likely stemming from ability to use PGD for variable penetrance and cancer predisposing genes and particularly with the prospect of comprehensive embryo testing. 34,38,64 Ethical obligations of the physician have been examined with concerns about providing a plethora of complicated genetic information to patients and about the uncertainty regarding on whom the responsibility befalls to select the optimal embryo.…”

Section: Ethical Considerationsmentioning

confidence: 99%

Preimplantation Diagnosis for Single Gene Disorders

Berger

Baker

2014

Semin Reprod Med

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Preimplantation genetic diagnosis (PGD) allows patients who are carriers or who are affected by genetic diseases to select unaffected embryos for transfer before becoming pregnant. The practice of PGD is evolving with rapid advances in technology and biopsy methods. Testing for a specific gene mutation can be performed in combination with 24-chromosome aneuploidy screening. Several unique applications of PGD are reviewed, including exclusion diagnosis for couples from Huntington disease families, testing for fragile X premutations, and human leukocyte antigen matching for stem cell donor siblings. Although PGD for single gene mutations allows patients to gain information about their embryos and perhaps avoid a difficult decision about whether or not to terminate an ongoing pregnancy, this technique also provides for much ethical debate encompassing the well-being of the prospective couple, embryo, child, and people in the community affected by the diseases being screened.

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

Abstract: This study showed that the majority of patients were in favour of PND and that opinions among practitioners varied widely, but that overall, practitioners favoured a systematic multidisciplinary evaluation of the couple's request.

Cited by 15 publications

References 19 publications

Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases

Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases

The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults

Preimplantation Diagnosis for Single Gene Disorders

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