Literature DB >> 14994282

Newborn screening for fragile X syndrome.

Donald B Bailey1.   

Abstract

Newborn screening for fragile X syndrome (FXS) is technically possible, and in the relatively near future accurate and inexpensive screening technologies are likely to be available. When that happens, will America's public health system adopt newborn screening for fragile X syndrome? This article addresses this issue by first placing screening for FXS in the context of the history and current status of newborn screening policy and practice. Lack of a proven medical treatment may stand as a barrier to newborn screening, but strong arguments can be made that early intervention provides important services for identified newborns and their families. Furthermore, other arguments could be used to justify newborn screening, including informed reproductive risk, medically necessary information, and consumer demand. Fragile X syndrome is offered as a prototype for many of the issues that will face society as more genetic disorders are discovered and new technologies for screening are developed. Copyright 2004 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  2004        PMID: 14994282     DOI: 10.1002/mrdd.20002

Source DB:  PubMed          Journal:  Ment Retard Dev Disabil Res Rev        ISSN: 1080-4013


  22 in total

1.  Newborn screening and cascade testing for FMR1 mutations.

Authors:  Page L Sorensen; Louise W Gane; Mark Yarborough; Randi J Hagerman; Flora Tassone
Journal:  Am J Med Genet A       Date:  2012-12-13       Impact factor: 2.802

Review 2.  Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?

Authors:  Michael J Cannon; Paul D Griffiths; Van Aston; William D Rawlinson
Journal:  Rev Med Virol       Date:  2014-04-24       Impact factor: 6.989

3.  Biobank participant support of newborn screening for disorders with variable treatment and intervention options.

Authors:  Megan E Bunnell; Beth A Tarini; Michael Petros; Aaron J Goldenberg; Aishwarya Arjunan; Catherine Wicklund
Journal:  J Community Genet       Date:  2016-09-01

4.  Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.

Authors:  Allyn McConkie-Rosell; Brenda Finucane; Amy Cronister; Liane Abrams; Robin L Bennett; Barbara J Pettersen
Journal:  J Genet Couns       Date:  2005-08       Impact factor: 2.537

Review 5.  Assessing the Fragile X Syndrome Newborn Screening Landscape.

Authors:  Catharine Riley; Anne Wheeler
Journal:  Pediatrics       Date:  2017-06       Impact factor: 7.124

6.  The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.

Authors:  Catharine Riley; Marsha Mailick; Elizabeth Berry-Kravis; Julie Bolen
Journal:  Pediatrics       Date:  2017-06       Impact factor: 7.124

7.  Digital microfluidics: a future technology in the newborn screening laboratory?

Authors:  David S Millington; Ramakrishna Sista; Allen Eckhardt; Jeremy Rouse; Deeksha Bali; Ronald Goldberg; Michael Cotten; Rebecca Buckley; Vamsee Pamula
Journal:  Semin Perinatol       Date:  2010-04       Impact factor: 3.300

8.  Fragile X screening: attitudes of genetic health professionals.

Authors:  Kruti Acharya; Lainie Friedman Ross
Journal:  Am J Med Genet A       Date:  2009-02-15       Impact factor: 2.802

9.  Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene.

Authors:  Eric D Dodds; Flora Tassone; Paul J Hagerman; Carlito B Lebrilla
Journal:  Anal Chem       Date:  2009-07-01       Impact factor: 6.986

10.  A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

Authors:  Flora Tassone; Ruiqin Pan; Khaled Amiri; Annette K Taylor; Paul J Hagerman
Journal:  J Mol Diagn       Date:  2007-12-28       Impact factor: 5.568

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