Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome

Halley, Dicky; Ouweland, Ans van den; Deelen, Wout H.; Verma, Ishwar C.; Oostra, Ben A.

doi:10.1002/ajmg.1320510435

Cited by 4 publications

(4 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…PCR and selective Southern blotting were also used for prenatal diagnosis. 15,16 In this study we refer to carriers as those women with a repeat size larger than 60, even though there might be unstable repeats between 40 and 60. All mothers with 40 or more CGG repeats underwent genetic counselling in the hospital with a geneticist.…”

Section: Methodsmentioning

confidence: 99%

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies

et al. 1999

View full text Add to dashboard Cite

Fragile X syndrome is the second leading cause of mental retardation after Down syndrome. Most women carriers of the fragile X mutation are unaware of their condition. We critically evaluated whether screening pregnant women at low risk for FMR1 mutation would be feasible as a routine part of antenatal care in general practice. We also studied acceptance and attitudes to gene testing. From July 1995 until December 1996, a carrier test was offered at the Kuopio City Health Centre free of charge to all pregnant women in the first trimester following counselling given by midwives on fragile X syndrome. All women found to be carriers of FMR1 gene mutations underwent detailed genetic counselling and were offered prenatal testing. Attitudes towards the gene test were elicited by questionnaire. Most pregnant women (85%) elected to undertake the gene test. Six women were found to be carriers (a rate of 1 in 246), and all subsequently accepted prenatal testing. Three foetuses had a normal FMR1 gene, one had a large premutation, one a 'size mosaic' mutation pattern, and another a full mutation. This observational and interventional study demonstrates that antenatal screening provides an effective way of identifying carriers and incorporating prenatal testing into this process.

show abstract

Section: Methodsmentioning

confidence: 99%

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies

et al. 1999

View full text Add to dashboard Cite

show abstract

“…Concern about the stability of a premutation during fetal life has led to the precautionary practice of offering confirmation by amniocentesis or fetal blood analysis, when a premutation allele only was seen in the CVS biopsy. 253 This concern about missing an affected 'size' mosaic may lessen as more information on stability and possible tissue-specific mosaicism is obtained.…”

Section: There Should Be An Accurate and Acceptable Methods Of Early Pmentioning

confidence: 99%

“…Prenatal diagnosis is performed in the context of a high risk to the fetus, and most laboratories use a combination of PCR and Southern blotting. [249][250][251][252][253] When a premutation is detected by chorionic villus sampling (CVS), it raises the question of how reliable a reflection this is of the fetal genotype -could somatic instability have led to a full mutation in some of the fetal tissues? For this reason, some confirm the premutation in amniotic fluid or a fetal blood sample before completely reassuring the mother.…”

Section: Prenatal Diagnosismentioning

confidence: 99%

“…For this reason, some confirm the premutation in amniotic fluid or a fetal blood sample before completely reassuring the mother. 253 Discordance between the methylation status of a full mutation in CVS and fetal tissue has been observed. A full mutation was unmethylated in a CVS at 11 weeks' gestation but methylated in fetal tissues; 129,251 hence, reliance cannot be put on the CVS methylation status.…”

Section: Prenatal Diagnosismentioning

confidence: 99%

See 1 more Smart Citation

An assessment of screening strategies for fragile X syndrome in the UK

Pembrey¹,

Barnicoat²,

Carmichael³

et al. 2001

Health Technol Assess

View full text Add to dashboard Cite

Health Technology Assessment is indexed in Index Medicus/MEDLINE and Excerpta Medica/ EMBASE. Copies of the Executive Summaries are available from the NCCHTA website (see opposite). NHS R&D HTA Programme T 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. Initially, six HTA panels (pharmaceuticals, acute sector, primary and community care, diagnostics and imaging, population screening, methodology) helped to set the research priorities for the HTA Programme. However, during the past few years there have been a number of changes in and around NHS R&D, such as the establishment of the National Institute for Clinical Excellence (NICE) and the creation of three new research programmes: Service Delivery and Organisation (SDO); New and Emerging Applications of Technology (NEAT); and the Methodology Programme. This has meant that the HTA panels can now focus more explicitly on health technologies ('health technologies' are broadly defined to include all interventions used to promote health, prevent and treat disease, and improve rehabilitation and long term care) rather than settings of care. Therefore the panel structure has been redefined and replaced by three new panels: Pharmaceuticals; Therapeutic Procedures (including devices and operations); and Diagnostic Technologies and Screening. The HTA Programme will continue to commission both primary and secondary research. The HTA Commissioning Board, supported by the National Coordinating Centre for Health Technology Assessment (NCCHTA), will consider and advise the Programme Director on the best research projects to pursue in order to address the research priorities identified by the three HTA panels. The research reported in this monograph was funded as project number 93/34/04. The views expressed in this publication are those of the authors and not necessarily those of the HTA Programme or the Department of Health. The editors wish to emphasise that funding and publication of this research by the NHS should not be taken as implicit support for the recommendations for policy contained herein. In particular, policy options in the area of screening will be considered by the National Screening Committee. This Committee, chaired by the Chief Medical Officer, will take into account the views expressed here, further available evidence and other relevant considerations. Criteria for inclusion in the HTA monograph series Reports are published in the HTA monograph series if (1) they have resulted from work commissioned for the HTA Programme, and (2) they are of a sufficiently high scientific quality as assessed by the referees and editors. Reviews in Health Technology Assessment are termed 'systematic' when the account of the search, appraisal and synthesis methods (to minimise biases and random errors) would, in theory, permit the replication ...

show abstract