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Fragile X population carrier screening

Genetics in Medicinevolume 20pages10911092 (2018) | Download Citation


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    Dimmock DP. Should we implement population screening for fragile X? Genet Med 2017;19:1329–1333.

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    Metcalfe SA, Martyn M, Ames A et al. Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening. Genet Med 2017;19:1380–1389.

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    Andermann A, Blancquaert I, Beauchamp S, Dery V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ 2008;86:317–319.

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    Archibald AD, Hickerton CL, Wake SA, Jaques AM, Cohen J, Metcalfe SA. “It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare. J Community Genet 2016;7:159–171.

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Author information


  1. Murdoch Childrens Research Institute, Genetics Education and Health Research, Royal Children’s Hospital, Melbourne, Victoria, Australia

    • Sylvia A Metcalfe BSc, PhD
    • , Martin B Delatycki MBBS, PhD
    • , Jonathan Cohen MBBS
    • , Alison D Archibald Grad Dip Gen Couns, PhD
    •  & Jon D Emery MBBCh, DPhil


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Conflict of Interest

M.D. and A.A. are employees of the Victorian Clinical Genetics Services, which provides a fee-for-service carrier screening panel (Prepair) for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. It is a not-for-profit specialist laboratory and clinical genetics service, and a wholly owned subsidiary of the Murdoch Children’s Research Institute. The other authors declare no conflict of interest.

Corresponding author

Correspondence to Sylvia A Metcalfe BSc, PhD.

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