Cargando…

Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Many providers offer preconception or prenatal FXS carrier screening. However, guidelines recommend screening only for those with a family history or undergoing fertility evaluation. Wider screening ha...

Descripción completa

Detalles Bibliográficos
Autores principales:	Johansen Taber, Katherine, Lim‐Harashima, Jeraldine, Naemi, Harris, Goldberg, Jim
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900367/ https://www.ncbi.nlm.nih.gov/pubmed/31694075 http://dx.doi.org/10.1002/mgg3.1024

Ejemplares similares

Sequencing as a first-line methodology for cystic fibrosis carrier screening
por: Beauchamp, Kyle A., et al.
Publicado: (2019)

Correction: Sequencing as a first-line methodology for cystic fibrosis carrier screening
por: Beauchamp, Kyle A., et al.
Publicado: (2019)

Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation
por: Meraj, Neelam, et al.
Publicado: (2022)

Recommended guidance beyond guidelines
por: Höschl, Cyril
Publicado: (2010)

Inaccuracies and shortcomings in “Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations”
por: Johansen Taber, Katherine, et al.
Publicado: (2019)

Correction: Inaccuracies and shortcomings in “Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations”
por: Taber, Katherine Johansen, et al.
Publicado: (2019)

Clinical utility of expanded carrier screening: results-guided actionability and outcomes
por: Johansen Taber, Katherine A., et al.
Publicado: (2018)

Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
por: Beauchamp, Kyle A., et al.
Publicado: (2019)

Fragile X syndrome: Diagnostic and carrier testing
por: Sherman, Stephanie, et al.
Publicado: (2005)

Genomic studies in fragile X premutation carriers
por: Lozano, Reymundo, et al.
Publicado: (2014)

Evaluating the efficacy of three carrier screening workflows designed to identify at‐risk carrier couples
por: Arjunan, Aishwarya, et al.
Publicado: (2021)

Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers
por: Aishworiya, Ramkumar, et al.
Publicado: (2022)

Summary and Recommendations: Highlights of the Asthma Summit 2009: Beyond the Guidelines
por: Kaliner, Michael A, et al.
Publicado: (2010)

Guidelines for the management of osteoporosis and fragility fractures
por: Nuti, Ranuccio, et al.
Publicado: (2018)

Guidelines for the management of ulcerative colitis. Recommendations of the Polish Society of Gastroenterology and the Polish National Consultant in Gastroenterology
por: Eder, Piotr, et al.
Publicado: (2023)

Recommendations on screening for primary prevention of fragility fractures
por: Thériault, Guylène, et al.
Publicado: (2023)

Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders
por: Ready, Kaylene, et al.
Publicado: (2019)

Guidelines for the management of patients with Crohn’s disease. Recommendations of the Polish Society of Gastroenterology and the Polish National Consultant in Gastroenterology
por: Łodyga, Michał, et al.
Publicado: (2021)

Guidelines for the management of ulcerative colitis. Recommendations of the Polish Society of Gastroenterology and the Polish National Consultant in Gastroenterology. Erratum
Publicado: (2023)

HBeAg-positive grey-zone patients: Treatment beyond guideline recommendations?
por: Lee, Soon Kyu, et al.
Publicado: (2023)

Test bank to accompany mathematics beyond the numbers
por: Gilbert, George T, et al.
Publicado: (2000)

PKU dietary handbook to accompany PKU guidelines
por: MacDonald, A., et al.
Publicado: (2020)

How Robust are the Evidences that Formulate Surviving Sepsis Guidelines? An Analysis of Fragility and Reverse Fragility of Randomized Controlled Trials that were Referred in these Guidelines
por: Choupoo, Nang S, et al.
Publicado: (2021)

Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation
por: Chidgey, Martyn, et al.
Publicado: (2001)

Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers
por: Polussa, Jonathan, et al.
Publicado: (2014)

X-inactivation in the clinical phenotype of fragile X premutation carrier sisters
por: Hall, Deborah A., et al.
Publicado: (2016)

Performance of Swedish Warmblood fragile foal syndrome carriers and breeding prospects
por: Ablondi, Michela, et al.
Publicado: (2022)

Clinical Guidelines for the Diagnosis and Treatment of Fragility Fractures of the Pelvis
por: Zhang, Jianzheng, et al.
Publicado: (2023)

Viruses Causing Gastroenteritis: The Known, The New and Those Beyond
por: Oude Munnink, Bas B., et al.
Publicado: (2016)

Internet videoconferencing for patient–clinician consultations in long-term conditions: A review of reviews and applications in line with guidelines and recommendations
por: Ignatowicz, Agnieszka, et al.
Publicado: (2019)

Perceived clinical utility of a test for predicting inadequate response to TNF inhibitor therapies in rheumatoid arthritis: results from a decision impact study
por: Pappas, Dimitrios A., et al.
Publicado: (2020)

Correction to: PKU dietary handbook to accompany PKU guidelines
por: MacDonald, A., et al.
Publicado: (2020)

Adolescent wellbeing in humanitarian and fragile settings: moving beyond rhetoric
por: Singh, Neha S, et al.
Publicado: (2023)

The Robustness Index: Going Beyond Statistical Significance by Quantifying Fragility
por: Heston, Thomas F
Publicado: (2023)

Fragile X syndrome carrier screening in pregnant women in Chinese Han population
por: Hung, Chia-Cheng, et al.
Publicado: (2019)

Fragile and conflict affected states: report from the Consultation on Collaboration for Applied Health Research and Delivery
por: Raven, Joanna, et al.
Publicado: (2014)

Beyond tsunami fragility functions: experimental assessment for building damage estimation
por: Vescovo, Ruben, et al.
Publicado: (2023)

Strokelike Episodes in PMM-2 Carriers Differ from Those in Mitochondrial Disorders
por: Finsterer, Josef
Publicado: (2023)

Guided therapy selection in rheumatoid arthritis using a molecular signature response classifier: an assessment of budget impact and clinical utility
por: Arnell, Christopher, et al.
Publicado: (2021)

Evidence for Correlation of Fragile Sites and Chromosomal Breakpoints in Carriers of Constitutional Balanced Chromosomal Rearrangements
por: Liehr, T, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_mne557kouq8horfkuiv421mcgd