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How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.
Klapwijk, Jasmijn E; Srebniak, Malgorzata I; Go, Attie T J I; Govaerts, Lutgarde C P; Lewis, Celine; Hammond, Jennifer; Hill, Melissa; Lou, Stina; Vogel, Ida; Ormond, Kelly E; Diderich, Karin E M; Brüggenwirth, Hennie T; Riedijk, Sam R.
Afiliación
  • Klapwijk JE; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Srebniak MI; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Go ATJI; Department of Obstetrics and Fetal Medicine, Erasmus MC, Rotterdam, The Netherlands.
  • Govaerts LCP; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Lewis C; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital, London, UK.
  • Hammond J; Population, Policy and Practice Department, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Hill M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital, London, UK.
  • Lou S; Genetic and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Vogel I; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital, London, UK.
  • Ormond KE; Genetic and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Diderich KEM; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.
  • Brüggenwirth HT; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.
  • Riedijk SR; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Clin Genet ; 100(6): 647-658, 2021 12.
Article en En | MEDLINE | ID: mdl-34155632
Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important to know how to handle uncertainty in this particularly stressful period. This systematic review aimed to provide a comprehensive overview of guidelines available for addressing uncertainty related to prenatal chromosomal microarray (CMA) and ES. Ten uncertainty types associated with prenatal ES and CMA were identified and defined by an international multidisciplinary team. Medline (all) and Embase were systematically searched. Laboratory scientists, clinical geneticists, psychologists, and a fetal medicine specialist screened the papers and performed the data extraction. Nineteen papers were included. Recommendations generally emphasized the importance of trio analysis, clinical information, data sharing, validation and re-analysis, protocols, multidisciplinary teams, genetic counselling, whether to limit the possible scope of results, and when to report particular findings. This systematic review helps provide a vocabulary for uncertainties, and a compass to navigate uncertainties. Prenatal CMA and ES guidelines provide a strong starting point for determining how to handle uncertainty. Gaps in guidelines and recommendations were identified and discussed to provide direction for future research and policy making.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Predisposición Genética a la Enfermedad / Genómica / Estudios de Asociación Genética Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Systematic_reviews Límite: Female / Humans / Pregnancy Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Predisposición Genética a la Enfermedad / Genómica / Estudios de Asociación Genética Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Systematic_reviews Límite: Female / Humans / Pregnancy Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Dinamarca