Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times

Habel, Alex; Herriot, Richard; Kumararatne, Dinakantha; Allgrove, Jeremy; Baker, Kate; Baxendale, Helen; Bu’Lock, Frances; Firth, Helen V.; Gennery, Andrew R.; Holland, Anthony; Illingworth, C; Mercer, Nigel; Pannebakker, Merel M.; Parry, Andrew J.; Roberts, Anne C.; Tsai-Goodman, Beverly

doi:10.1007/s00431-013-2240-z

Cited by 69 publications

(73 citation statements)

References 51 publications

(88 reference statements)

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“…Peer-reviewed expert consensus documents are available for the evaluation and management of patients with 22q11 deletion syndrome (DiGeorge syndrome). 69,70 This is the most common copy-number variation currently being offered through NIPS. Resources for other CNVs may be found in GeneReviews.…”

Section: Provider Resourcesmentioning

confidence: 99%

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Gregg

Skotko

Benkendorf

et al. 2016

Genetics in Medicine

565

560

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guidelines and statements have assisted patients seeking prenatal screening information and health-care providers responsible for providing accurate and up-to-date information to their patients. [1][2][3] Until recently, noninvasive prenatal screening for aneuploidy relied on measurements of maternal serum analytes and/or ultrasonography. These have a false-positive rate of approximately 5% and detection rates of 50-95%, depending on the specific screening strategy used. Advances in genomic technologies led to noninvasive prenatal screening that relies on the presence of cell-free DNA derived from the placenta but circulating in maternal blood, which is referred to here as noninvasive prenatal screening (NIPS). Massive parallel sequencing of maternal and placental (also called fetal when speaking of the fraction of this DNA in maternal blood) fragments of DNA occurs simultaneously. Sequencing with quantification can be random, targeted, and followed by quantification or exploitation of single-nucleotide polymorphisms. [4][5][6][7][8] Alternatively, sequencing can take place by measuring the release of hydrogen ions as nucleotides are added to a DNA template (i.e., semiconductor sequencing). 9 Microarray technology can also be used to quantify DNA. 10 Bioinformatics that enable these methodologies is complex and proprietary. Since the introduction of NIPS in 2011, health-care providers and patients have experienced marketing pressures, rapidly evolving professional practice guidelines, and confusion regarding the appropriate role of Noninvasive prenatal screening using cell-free DNA (NIPS) has been rapidly integrated into prenatal care since the initial American College of Medical Genetics and Genomics (ACMG) statement in 2013. New evidence strongly suggests that NIPS can replace conventional screening for Patau, Edwards, and Down syndromes across the maternal age spectrum, for a continuum of gestational age beginning at 9-10 weeks, and for patients who are not significantly obese. This statement sets forth a new framework for NIPS that is supported by information from validation and clinical utility studies. Pretest counseling for NIPS remains crucial; however, it needs to go beyond discussions of Patau, Edwards, and Down syndromes. The use of NIPS to include sex chromosome aneuploidy screening and screening for selected copy-number variants (CNVs) is becoming commonplace because there are no other screening options to identify these conditions. Providers should have a more thorough understanding of patient preferences and be able to educate about the current drawbacks of NIPS across the prenatal screening spectrum. Laboratories are encouraged to meet the needs of providers and their patients by delivering meaningful screening reports and to engage in education. With health-care-provider guidance, the patient should be able to make an educated decision about the current use of NIPS and the ramifications of a positive, negative, or no-call result. Genet Med advance online publication 28 July 2016Key Words: cell-f...

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Section: Provider Resourcesmentioning

confidence: 99%

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Gregg

Skotko

Benkendorf

et al. 2016

Genetics in Medicine

565

560

View full text Add to dashboard Cite

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“…For example, there are clinical management guidelines available for the 22q11.2 deletion syndrome. Screening for specific physical health conditions, including cardiac, renal and immunology investigations, and a comprehensive mental health assessment are recommended (Habel et al., 2014). Such guidelines offer good prospects for early intervention and optimized health care, although they are not yet available for every genetic cause of intellectual disability.…”

Section: Introductionmentioning

confidence: 99%

Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists

Wolfe

Stueber

McQuillin

et al. 2017

Research Intellect Disabil

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BackgroundAn increasing number of genetic causes of intellectual disabilities (ID) are identifiable by clinical genetic testing, offering the prospect of bespoke patient management. However, little is known about the practices of psychiatrists and their views on genetic testing.MethodWe undertook an online survey of 215 psychiatrists, who were contacted via the Royal College of Psychiatrist's Child and Adolescent and Intellectual Disability Psychiatry mailing lists.ResultsIn comparison with child and adolescent psychiatrists, intellectual disability psychiatrists ordered more genetic tests, referred more patients to genetic services, and were overall more confident in the genetic testing process. Respondents tended to agree that genetic diagnoses can help patient management; however, management changes were infrequently found in clinical practice.ConclusionsDifferences are apparent in the existing views and practices of child and adolescent and intellectual disability psychiatrists. Developing training and collaboration with colleagues working in genetic services could help to reduce discrepancies and improve clinical practice.

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“…Fendas palatinas abertas ou fendas labiopalatinas uni ou bilaterais são encontradas em cerca de 9 a 15% dos indivíduos, ao passo que fenda labial isolada encontra-se raramente presente em portadores da deleção 22q11.2, ocorrendo em torno de 3% destes (MCDONALD-MCGINN et al, 1997;RYAN et al, 1997;MCDONALD-MCGINN et al, 1999;CUNEO, 2001;REISH et al, 2003;RUITER et al, 2003;ÓSKARSDÓTTIR et al, 2005;HAY, 2007;BASHIR et al, 2008;HABEL et al, 2014;VIEIRA et al, 2014).…”

Section: Anomalias Palatinas E Da Cavidade Oralunclassified

“…A investigação auditiva deve ser realizada com triagem auditiva neonatal e com uma segunda triagem por volta dos cinco anos de idade (HABEL et al, 2014).…”

Section: Anomalias Palatinas E Da Cavidade Oralunclassified

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Caracterização fenotípica em indivíduos com microarranjos na região cromossômica 22q11

Empke¹

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RESUMOEmpke SLL. Caracterização fenotípica em indivíduos com microarranjos na região cromossômica 22q11 [dissertação]. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo; 2015.Objetivo: Descrever as manifestações clínicas de indivíduos com hipótese diagnostica da Sindrome de deleção 22q11 (SD22q11) confirmados por testes genéticos, na primeira avaliação e durante o acompanhamento dos mesmos em avaliações subsequentes para uma melhor definição do curso natural da doença. Local: Laboratório de Genética e Citogenética Humana do HRAC-USP -Bauru/SP. Casuística e metodologia: O presente trabalho é retrospectivo e analisou os dados de prontuários de 72 indivíduos cadastrados no HRAC-USP, os quais receberam hipótese diagnóstica da SD22q11 e foram confirmadas por teste genético (MLPA ou FISH). A avaliação envolveu a analise dos dados relatados por todos os setores do HRAC-USP. Resultados e discussão: Foramanalisados 72prontuários deindivíduos com a SD22q11. Constatamos que a idade media dos indivíduos quando do cadastro no HRAC-USP foi de seis anos. Também constatamos que houve um longo período de tempo entre os retornos ao hospital e que, nesses retornos, nem todas as especialidades foram contempladas. Esses fatos prejudicaram a analise da historia natural da anomalia em questão. Com relação às características fenotipicas, observamos a presença de sinais clínicos típicos, como por exemplo: face alongada, lábios finos, hipoplasia alar, anormalidades menores na orelha, dígitos longos e fendas palpebrais, fissuras labiopalatinas, cardiopatias congenitas, dificuldade de aprendizagem, atraso de linguagem e distúrbios comportamentais. A fissura oral foi à manifestação otorrinolaringológica mais frequente, presente em 75% dos pacientes, onde as fissuras submucosas foram as mais frequentes (43%). As características cognitivas como, atraso de fala (87%), dificuldades de aprendizagem (95%) e distúrbios comportamentais (81%), tiveram um resultado significativo, descritas em quase todos os indivíduos. As cardiopatias congênitas estavam presentes em 47,2% dos prontuários analisados. De um modo geral, comparando a frequência dos sinais clínicos encontrados neste trabalho com dados da literatura, constatamos que as frequências encontram-se dentro do esperado. Conclusão: A maioria dos indivíduos cadastrados no HRAC-USP, pertencentes ao grupo de estudo, apresentou idade superior a 06 anos. Portanto, a observação do curso natural da historia da SD22q11 para avaliar características fenotípicas que surgissem ao longo da evolução clinica do indivíduo e que pudessem ajudar no diagnóstico, ficou prejudicada. Mesmo nos casos onde o indivíduo foi cadastrado no HRAC-USP com idade inferior a dois anos, o diagnóstico foi tardio devido a falta de uma ação multidisciplinar e interdisciplinar no hospital. Mesmo não sendo possível avaliar as características fenotípicas surgidas durante a historia natural da doença, constatamos que as manifestações clínicas relatadas nos prontuários cursam com as características da SD...

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Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times

Cited by 69 publications

References 51 publications

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists

Caracterização fenotípica em indivíduos com microarranjos na região cromossômica 22q11

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