Efficacy of cascade testing for fragile X syndrome

Wildhagen, M. F.; Os, Th. A. M. Van; Polder, J.J.; Kate, Leo P. ten; Habbema, J. Dik F.

doi:10.1136/jms.6.2.70

Cited by 11 publications

(13 citation statements)

References 18 publications

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“…The estimated cost was US$45,000 per detected carrier. G Wildhagen and co-workers 110 used a microsimulation model to assess the cascade testing for FXS in The Netherlands. Cascade testing may be more efficient in terms of a better NNT (number needed to test for one detected carrier) than prenatal screening.…”

Section: Discussionmentioning

confidence: 99%

“…Wildhagen and co-workers 110 developed a microsimulation model, simulating pedigrees of five generations to obtain a population where some nuclear families were connected with others and some were not. Then the simulation data were used to estimate the efficacy of cascade testing for FXS.…”

Section: A Simulation Modelling Of Cascade Testing In the Netherlandsmentioning

confidence: 99%

“…In estimating this information, we have been helped by a model constructed by Wildhagen and co-workers, 110 which was specifically constructed to assess cascade screening, but not to handle other screening methods.…”

Section: Remarksmentioning

confidence: 99%

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Screening for fragile X syndrome: a literature review and modelling study

Song

Barton²,

Sleightholme³

et al. 2003

Health Technol Assess

101

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Non-UK purchasers will have to pay a small fee for post and packing. For European countries the cost is £2 per monograph and for the rest of the world £3 per monograph.You can order HTA monographs from our Despatch Agents:-fax (with credit card or official purchase order) -post (with credit card or official purchase order or cheque) -phone during office hours (credit card only).Additionally the HTA website allows you either to pay securely by credit card or to print out your order and then post or fax it. Contact details are as follows: Payment methods Paying by chequeIf you pay by cheque, the cheque must be in pounds sterling, made payable to Direct Mail Works Ltd and drawn on a bank with a UK address. Paying by credit cardThe following cards are accepted by phone, fax, post or via the website ordering pages: Delta, Eurocard, Mastercard, Solo, Switch and Visa. We advise against sending credit card details in a plain email.Paying by official purchase order You can post or fax these, but they must be from public bodies (i.e. NHS or universities) within the UK. We cannot at present accept purchase orders from commercial companies or from outside the UK. How do I get a copy of HTA on CD?Please use the form on the HTA website (www.hta.ac.uk/htacd.htm). Or contact Direct Mail Works (see contact details above) by email, post, fax or phone. HTA on CD is currently free of charge worldwide.The website also provides information about the HTA Programme and lists the membership of the various committees. HTAScreening for fragile X syndrome: a literature review and modelling study NHS R&D HTA ProgrammeT he NHS R&D Health Technology Assessment (HTA) Programme was set up in 1993 to ensure that high-quality research information on the costs, effectiveness and broader impact of health technologies is produced in the most efficient way for those who use, manage and provide care in the NHS.The research reported in this monograph was commissioned by the HTA Programme. Technology assessment reports are completed in a limited time to inform decisions in key areas by bringing together evidence on the use of the technology concerned.The research reported in this monograph was funded as project number 01/32/01. The editors and publisher have tried to ensure the accuracy of this report but do not accept liability for damages or losses arising from material published in this report. ISSN 1366-5278 © Queen's Printer and Controller of HMSO 2003This monograph may be freely reproduced for the purposes of private research and study and may be included in professional journals provided that suitable acknowledgement is made and the reproduction is not associated with any form of advertising.Applications for commercial reproduction should be addressed to HMSO,The Copyright Unit, St Clements House, 2-16 Colegate, Norwich, NR3 1BQ.Published by Gray Publishing, Tunbridge Wells, Kent, on behalf of NCCHTA. Printed on acid-free paper in the UK by St Edmundsbury Press Ltd, Bury St Edmunds, Suffolk. Criteria for inclusion in the HTA monograph seriesRep...

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Section: Discussionmentioning

confidence: 99%

Section: A Simulation Modelling Of Cascade Testing In the Netherlandsmentioning

confidence: 99%

See 1 more Smart Citation

Screening for fragile X syndrome: a literature review and modelling study

Song

Barton²,

Sleightholme³

et al. 2003

Health Technol Assess

101

View full text Add to dashboard Cite

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“…Although these identified families could benefit from genetic counseling, newborn screening is neither ideal nor designed for identifying most at-risk families for the fragile X syndrome in the general population. 120 Finally, many other issues, including educating health-care professionals and the public about the syndrome, assessing the psychological impact of carrier status, and maintaining families' privacy, should be thoroughly researched and adequately resolved before implementation of any type of routine screening for the fragile X syndrome in the general population.…”

Section: Gaps In Research Related To Screeningmentioning

confidence: 99%

FMR1 and the fragile X syndrome: Human genome epidemiology review

Crawford

Acuña

Sherman

2001

Genetics in Medicine

573

391

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The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms of inherited mental retardation. The cognitive, behavioral, and physical phenotype varies by sex, with males being more severely affected because of the X-linked inheritance of the mutation. The disorder-causing mutation is the amplification of a CGG repeat in the 5' untranslated region of FMR1 located at Xq27.3. The fragile X CGG repeat has four forms: common (6 -40 repeats), intermediate (41-60 repeats), premutation (61-200 repeats), and full mutation (Ͼ200 -230 repeats). Population-based studies suggest that the prevalence of the full mutation, the disorder-causing form of the repeat, ranges from 1/3,717 to 1/8,918 Caucasian males in the general population.The full mutation is also found in other racial/ethnic populations; however, few population-based studies exist for these populations. No population-based studies exist for the full mutation in a general female population. In contrast, several large, population-based studies exist for the premutation or carrier form of the disorder, with prevalence estimates ranging from 1/246 to 1/468 Caucasian females in the general population. For Caucasian males, the prevalence of the premutation is~1/1,000. Like the full mutation, little information exists for the premutation in other populations. Although no effective cure or treatment exists for the fragile X syndrome, all persons affected with the syndrome are eligible for early intervention services. The relatively high prevalence of the premutation and full mutation genotypes coupled with technological advances in genetic testing make the fragile X syndrome amenable to screening. The timing as well as benefits and harms associated with the different screening strategies are the subject of current research and discussion. Genet Med 2001:3(5):359 -371.

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“…Although FXS 16 FXS is usually diagnosed by case-finding with carriers identified through cascade testing of family members, yet the majority of carriers remain undetected. 5,17 There have been discussions regarding the feasibility, cost-effectiveness, and cost-benefit of population-based carrier screening for FXS, with arguments generally in favor. 18 -23 Others have suggested that the decision to screen should focus on medical, social, psychological, and ethical considerations.…”

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confidence: 99%