Preconception and antenatal screening for the fragile site on the X-chromosome

Kornman, Louise; Nisbet, David R.; Liebelt, Jan

doi:10.1002/14651858.cd001806

Cited by 4 publications

(6 citation statements)

References 22 publications

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“…Previous systematic reviews that have addressed population-based screening for FXS include a Cochrane review that aimed to compare population-based screening of women of reproductive age with the current practice of cascade screening. 73 Ultimately, no studies were included in the review as no randomized clinical trials of FXS screening had been performed. 73 In addition, three Health Technology Assessment (HTA) reviews have examined the feasibility and acceptability (based on uptake) of cascade screening and population-based screening.…”

Section: Discussionmentioning

confidence: 99%

“…73 Ultimately, no studies were included in the review as no randomized clinical trials of FXS screening had been performed. 73 In addition, three Health Technology Assessment (HTA) reviews have examined the feasibility and acceptability (based on uptake) of cascade screening and population-based screening. 38,74,75 These extensive reviews have addressed mutation prevalence, risk of FMR1 mutation expansions, uptake of testing, and modeling of economic costs.…”

Section: Discussionmentioning

confidence: 99%

“…Carrier screening in women of reproductive age has been the focus of most of the research offering screening to date, and only one study offering newborn screening was identified. All have been observational studies, 11,40,[53][54][55][56][57][58][59][60][61] and as also found in the Cochrane review of FXS screening, 73 no controlled screening intervention studies have been conducted. Ideally to assess efficacy, population-based screening should be compared with a control group in which screening is not offered or in which a different screening intervention is used; for example, cascade screening of family members.…”

Section: Discussionmentioning

confidence: 99%

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A systematic review of population screening for fragile X syndrome

Hill

Archibald

Cohen

et al. 2010

Genetics in Medicine

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Purpose: To conduct a systematic review of literature regarding population-based screening for fragile X syndrome in newborns and women of reproductive age, either before or during pregnancy. Methods: Seven electronic databases were searched for English language studies published between January 1991 and November 2009. Data extraction was performed for all included studies. Results were synthesized using a narrative approach. Results: One article that examined offering newborn screening for fragile X syndrome and 10 that examined the offer of fragile X syndrome screening to women of reproductive age were identified. Two of these articles also addressed psychosocial aspects of population screening for fragile X syndrome such as attitudes to screening and experiences of screening, and a further nine addressed these issues alone. Studies exploring psychosocial issues demonstrated challenges for counseling arising from a lack of awareness or personal experience with fragile X syndrome in the general population. Conclusions: Targeted counseling and educational strategies will be essential to support women from the general population. It is crucial that future studies offering screening for fragile X syndrome explore a range of psychosocial aspects in addition to looking at uptake of testing and mutation frequency. Genet Med 2010:12(7):396 -410.Key Words: attitudes, carrier screening, fragile X syndrome, newborn screening, psychosocial P opulation-based screening programs for a number of genetic conditions have been established in newborn, prenatal, and preconception settings. Specific criteria, such as those developed by the World Health Organization, 1,2 are available to provide guidance on which conditions are suitable for screening. 3 Fragile X syndrome (FXS) is an X-linked genetic condition for which possible inclusion in population-based screening programs has been discussed and debated for many years. 4 -7 FXS is the most common known cause of inherited intellectual and developmental disability. It has a serious adverse impact on individuals and their families that is equivalent to that of other disabilities such as Down syndrome and autism. Most FXS cases are caused by the silencing of the FMR1 gene, which is located on the X chromosome. In these cases, the FMR1 gene is switched off as a result of an increase in the number of hypermethylated trinucleotide (CGG) repeats in the 5Ј untranslated region of the gene. Current definitions describe the normal range of CGG repeats as 6 -44, the "gray zone" range as 45-54 repeats, and the premutation range as 55-199 repeats. 8 Those affected by FXS have Ͼ200 repeats (full mutation). The length of the CGG repeat is unstable over a certain size, such that a premutation can expand to a full mutation when passed onto offspring through female, but not male, premutation carriers. 9 -11 Similarly, a gray zone allele can increase to a premutation allele when transmitted to offspring, such that a grandchild could be affected with FXS.The full mutation is associated with intell...

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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A systematic review of population screening for fragile X syndrome

Hill

Archibald

Cohen

et al. 2010

Genetics in Medicine

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“…66 The 2009 Cochran review comparing pre and antenatal screening for FXS supports that there is currently no evidence regarding the benefits of nonselective screening for all newborns. 67 Both PTs and physicians need information on intervention approaches that would be optimal for FXD in order to improve early intervention and life span management. The evidence suggests that the physical therapy profession has shown a limited commitment to linking an accurate etiology to the clinical management.…”

Section: Implications For Practicementioning

confidence: 99%

Three Faces of Fragile X

Lieb-Lundell

2016

Physical Therapy

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Fragile X syndrome (FXS) is the first of 3 syndromes identified as a health condition related to fragile X mental retardation (FMR1) gene dysfunction. The other 2 syndromes are fragile X-associated primary ovarian insufficiency syndrome (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS), which together are referred to as fragile X-associated disorders (FXDs). Collectively, this group comprises the 3 faces of fragile X. Even though the 3 conditions share a common genetic defect, each one is a separate health condition that results in a variety of body function impairments such as motor delay, musculoskeletal issues related to low muscle tone, coordination limitations, ataxia, tremor, undefined muscle aches and pains, and, for FXTAS, a late-onset neurodegeneration. Although each FXD condition may benefit from physical therapy intervention, available evidence as to the efficacy of intervention appropriate to FXDs is lacking. This perspective article will discuss the genetic basis of FMR1 gene dysfunction and describe health conditions related to this mutation, which have a range of expressions within a family. Physical therapy concerns and possible assessment and intervention strategies will be introduced. Understanding the intergenerational effect of the FMR1 mutation with potential life-span expression is a key component to identifying and treating the health conditions related to this specific genetic condition.

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“…10 RCTs can provide the most valid evidence about the effectiveness of different screening strategies. However, because there is no evidence from relevant RCTs, we have to rely on data from observational studies.…”

Section: A Survey Of Current Practicementioning

confidence: 99%

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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Preconception and antenatal screening for the fragile site on the X-chromosome

Cited by 4 publications

References 22 publications

A systematic review of population screening for fragile X syndrome

A systematic review of population screening for fragile X syndrome

Three Faces of Fragile X

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

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