Preimplantation genetic diagnosis: new reproductive options for carriers of haemophilia

Lavery, Stuart

doi:10.1111/j.1365-2516.2004.01042.x

Cited by 19 publications

(16 citation statements)

References 38 publications

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“…The Hemo-Sat A consists of 34 items pertaining to six dimensions ('ease and convenience', 'efficacy', 'burden', 'specialist', 'centre' and 'general satisfaction'). The questionnaire shows quite satisfactory psychometric characteristics in terms of reliability (Cronbach's α = 0.71-0.95) and validity (convergent: correlation with life satisfaction scale; discriminant: differences for clinical subgroups concerning severity and target joints) [30]. The Hemo-Sat A is available in 34 languages and linguistically validated in 24 languages.…”

Section: Methodsmentioning

confidence: 99%

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Content comparison of haemophilia specific patient-rated outcome measures with the international classification of functioning, disability and health (ICF, ICF-CY)

Riva

Bullinger

Amann

et al. 2010

Health and Quality of Life Outcomes

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BackgroundPatient-Reported Outcomes (PROs) are considered important outcomes because they reflect the patient's experience in clinical trials. PROs have been included in the field of haemophilia only recently.PurposeComparing the contents of PROs measures used in haemophilia, based on the ICF/ICF-CY as frame of reference.MethodsHaemophilia-specific PROs for adults and children were selected on the grounds of international accessibility. The content of the selected instruments were examined by linking the concepts within the items of these instruments to the ICF/ICF-CY.ResultsWithin the 5 selected instruments 365 concepts were identified, of which 283 concepts were linked to the ICF/ICF CY and mapped into 70 different categories. The most frequently used categories were "b152: Emotional functions" and "e1101: Drugs".ConclusionsThe present paper provides an overview on current PROs in haemophilia and facilitates the selection of appropriate instruments for specific purposes in clinical and research settings. This work was made possible by the grant of the European Murinet Project (Multidisciplinary Research Network on Health and Disability in Europe).

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Section: Methodsmentioning

confidence: 99%

“…A first haemophilia-specific treatment satisfaction questionnaire (Hemo-Sat) for adults and parents has been developed [30,27]. …”

Section: Introductionmentioning

confidence: 99%

Content comparison of haemophilia specific patient-rated outcome measures with the international classification of functioning, disability and health (ICF, ICF-CY)

Riva

Bullinger

Amann

et al. 2010

Health and Quality of Life Outcomes

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“…Secondly, carriers need to be identified and well informed so that they can make their own reproductive choices, including antenatal diagnosis and termination of an affected fetus. Opportunities may become more widely available for preimplantation diagnosis (Lavery, 2004). These options may be particularly important in developing countries where haemophilia is much more difficult to treat, and prevention is an important option.…”

Section: The Development Of Haemophilia Services – Comprehensive Carementioning

confidence: 99%

Optimal haemophilia care versus the reality

Bolton‐Maggs

2006

Br J Haematol

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SummaryHaemophilia A and B are inherited bleeding disorders whose diagnosis and management is generally well established and best provided by specialists in a comprehensive care setting. Patients may be put at unnecessary risk if appropriate expertise is not sought for the management of accidents and surgery. The delivery of a high quality comprehensive service to patients with bleeding disorders depends upon defined standards and a network of haemophilia centres in the UK with similar models in other countries. In developing countries, despite a shortage or absence of treatment products, development of local expertise results in an improved outlook and reduction in mortality. Optimal care for severe haemophilia includes accurate diagnosis, early and adequate factor replacement for bleeding episodes and the provision of prophylaxis from an early age to prevent joint bleeding and the consequent arthropathy. Haemophilia treatment is expensive resulting in considerable inequity in provision of care across the world. Despite decades of experience, optimal treatment levels are not robustly defined. Transfusion-transmitted infections continue to have a significant impact on patient management. The development of inhibitory antibodies seriously complicates the management both in morbidity and cost. While gene therapy has not yet produced the hoped-for cure, new technologies will produce improved products.

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“…This technology does not guarantee a female pregnancy but aims to ‘enrich’ the proportion of X‐carrying sperm and therefore increase the chance of a female child. It is necessary to underline that this approach is still experimental and only available at one or two centres in the United State of America (USA) [29].…”

Section: Sperm Sortingmentioning

confidence: 99%

Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world

2011

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Prenatal diagnosis (PND) aims to provide accurate, rapid results as early in pregnancy as possible. Conventional PND involves sampling cells of foetal origin by chorionic villus sampling at 11-14th weeks of pregnancy or amniocentesis after 15th week. These are invasive procedures and have a small but significant rate of 0.5% to 1% for loss of pregnancy. An alternative to existing methods for conventional PND for couples at risk of transmitting a genetic disease to their child is preimplantation genetic diagnosis (PGD). PGD is a newly emerging form of a very early prenatal diagnosis. The technique combines assisted reproductive technology with molecular genetics and cytogenetics to allow the identification of abnormality in embryos prior to implantation. The diagnosis of genetic disease in human preimplantation embryos was pioneered in the late 1980s for testing of aneuploidy, single gene and X-linked disease, such as cystic fibrosis, haemophilia and chromosomal abnormalities. The PGD-related legal and ethical issues have been debated at many levels both nationally and internationally. The attitude towards PGD varies substantially not only in different parts of the world but also within the Europe, owing to scientific, cultural and religious differences. PGD has become widely practised throughout the world for various indications and can substantially decrease the eventual risks of passing a genetic undesired condition of the offspring. Nevertheless, its extension to some new and non-medical indications has raised ethical concerns, in particular its potential eugenic dimension.

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Preimplantation genetic diagnosis: new reproductive options for carriers of haemophilia

Cited by 19 publications

References 38 publications

Content comparison of haemophilia specific patient-rated outcome measures with the international classification of functioning, disability and health (ICF, ICF-CY)

Content comparison of haemophilia specific patient-rated outcome measures with the international classification of functioning, disability and health (ICF, ICF-CY)

Optimal haemophilia care versus the reality

Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world

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