Recommendations for the use of microarrays in prenatal diagnosis

Suela, Javier; López-Expósito, Isabel; Querejeta, María Eugenia; Martorell, Rosa; Cuatrecasas, Esther; Armengol, Lluı́s; Antolín, E.; Garrido, Eva María Nieto; Trujillo-Tiebas, María José; Rosell, Jordi; Garcı́a-Planells, Javier; Cigudosa, Juan C.

doi:10.1016/j.medcle.2016.12.065

Cited by 7 publications

(19 citation statements)

References 44 publications

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“…23 Gardiner et al (2015) stated that it should be decided in MDT whether trio analysis is appropriate when employing CMA. 28 Others however, generally advised trio analysis to aid interpretation and decision-making concerning reporting, 4,[25][26][27]29 by improving variant classification, 18 discovering de novo variants or compound heterozygosity efficiently, 23 or formally confirming a diagnosis. 32 Clinical information was considered imperative to aid the interpretation of variants, 20,22 as were the prenatal phenotype and MDT discussions about the phenotypic information.…”

Section: Careful Classification Of Pathogenicity Of Variantsmentioning

confidence: 99%

“…4,23 A publication on prenatal ES stated that reporting of VUS that fit the prenatal phenotype should be considered. 23 Finally, Suela et al (2017) suggested that patients should be offered a choice in which results to receive, 26 while Dugoff et al (2016) suggested reporting VUS, but only after extensive pre-and post-test counselling. 25 Guidelines were not always clear on how to handle VUS, but often depended on local practice.…”

Section: Considerations Toward Reportingmentioning

confidence: 99%

“…27 Vears et al (2018) proposed to report heterozygosity of recessive disorders, but to honor an adults' informed consent and/or choice to opt-out, even if the IF may be relevant to their health. 10 Pre-test counseling should address the possibility of IF's and which IF's are (not) reported, 3,4,17,19,[23][24][25][26]29,31 Pre-test counseling should also discuss the possibility to detect non-paternity and how this influences the interpretation of the genetic results. 29 Matthijs et al (2016) recommended supplementing this information with written leaflets or online information.…”

Section: Incidental Findingsmentioning

confidence: 99%

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How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

Klapwijk

Srebniak

et al. 2021

Clinical Genetics

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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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Section: Careful Classification Of Pathogenicity Of Variantsmentioning

confidence: 99%

Section: Considerations Toward Reportingmentioning

confidence: 99%

Section: Incidental Findingsmentioning

confidence: 99%

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How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

Klapwijk

Srebniak

et al. 2021

Clinical Genetics

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“…Se recomienda utilizar un array orientado al diagnóstico prenatal [58], con un tiempo de respuesta máximo de 5 a 10 días laborables. Un resultado confirmatorio de la trisomía mediante microarray es considerado suficiente prueba diagnóstica, independientemente de los hallazgos ecográficos disponibles.…”

Section: Microarrays Genómicosunclassified

Cribado y diagnóstico prenatal de anomalías genéticas: recomendaciones de consenso SEGO, SEQC^ML, AEDP

Prieto

Adiego²,

Suela

et al. 2020

Advances in Laboratory Medicine / Avances en Medicina De Laboratorio

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ResumenEl objetivo de este trabajo es difundir las recomendaciones del consenso entre las sociedades científicas SEGO, SEQCML y AEDP sobre cribado y diagnóstico prenatal de anomalías genéticas, así como una propuesta de indicadores de evaluación, desde una perspectiva de mejora de cada uno de los procesos que constituyen el campo de aplicación de las estrategias actuales de cribado: bioquímico, ecográfico y genético. Asimismo, se recogen recomendaciones relacionadas con los procesos invasivos de diagnóstico prenatal, incluyendo tanto las técnicas de recogida de muestra como las aplicables a su posterior análisis genético. Perspectiva: Se propone unificar criterios e indicadores a nivel nacional, con evaluaciones periódicas. Asimismo, sería muy recomendable establecer una estrategia de cribado prenatal a nivel nacional, dotada con recursos que aseguren la auditoría periódica de dichos indicadores y de los procedimientos diagnósticos, con supervisión por las administraciones sanitarias. Los protocolos deberían ser revisados periódicamente para adaptarse a nuevas tecnologías coste-efectivas.

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“…It is recommended to use an array specific for prenatal diagnosis [58] with a maximum turnoaround time of 5-10 working days. A microarray result confirmatory for a trisomy is considered sufficient as a diagnostic method, regardless of the available ultrasound findings.…”

Section: Genomic Microarraysmentioning

confidence: 99%

Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQC^ML, AEDP consensus recommendations

Prieto

Adiego

Suela³

et al. 2020

Advances in Laboratory Medicine / Avances en Medicina De Laboratorio

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In this paper, the scientific societies SEGO, SEQCML and AEDP provide a series of consensus-based recommendations for prenatal screening and diagnosis of genetic abnormalities. A set of evaluation indicators are also proposed as a means to improve the quality of the biochemical, ultrasound, and genetic processes involved in prenatal screening and diagnosis of genetic anomalies. Some recommendations are also proposed in relation to invasive prenatal diagnostic procedures, more specifically regarding sample collection and genetic testing. The purpose of this proposal is to unify performance criteria and quality indicators at national level, with audits performed on a regular basis. It is strongly recommended that a national prenatal screening strategy be established and provided with the resources necessary to evaluate the performance of quality indicators and diagnostic procedures under the supervision of health authorities. Protocols should be revised on a regular basis to consider the incorporation of new cost-effective technologies.

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Recommendations for the use of microarrays in prenatal diagnosis

Cited by 7 publications

References 44 publications

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

Cribado y diagnóstico prenatal de anomalías genéticas: recomendaciones de consenso SEGO, SEQC^ML, AEDP

Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQC^ML, AEDP consensus recommendations

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Recommendations for the use of microarrays in prenatal diagnosis

Cited by 7 publications

References 44 publications

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

Cribado y diagnóstico prenatal de anomalías genéticas: recomendaciones de consenso SEGO, SEQCML, AEDP

Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations

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Cribado y diagnóstico prenatal de anomalías genéticas: recomendaciones de consenso SEGO, SEQC^ML, AEDP

Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQC^ML, AEDP consensus recommendations