{"id":2694,"date":"2022-10-01T11:15:59","date_gmt":"2022-10-01T11:15:59","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2694"},"modified":"2022-10-15T09:49:57","modified_gmt":"2022-10-15T09:49:57","slug":"criterios-de-realizacion-de-acgh","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/criterios-de-realizacion-de-acgh\/","title":{"rendered":"Criteria of realization of aCGH."},"content":{"rendered":"\n

El array de hibridaci\u00f3n gen\u00f3mica comparada (aCGH)<\/a> es la exploraci\u00f3n complementaria gen\u00e9tica de primera elecci\u00f3n<\/strong> en ni\u00f1os con retraso global del desarrollo\/discapacidad intelectual y\/o malformaciones cong\u00e9nitas m\u00faltiples<\/strong>, seg\u00fan las guias cl\u00ednicas de la AAP, la AAN, la ISCA y la ACMG. <\/p>\n\n\n\n

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Umbral diagn\u00f3stico:<\/div><\/summary>
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Tiene la mejor rentabilidad diagn\u00f3stica considerando cada test individualmente (del 8 al 20%) superado s\u00f3lo por la evaluaci\u00f3n cl\u00ednica por parte de un cl\u00ednico especializado en retraso global del desarrollo\/discapacidad intelectual. <\/p>\n<\/div><\/details>\n<\/div>\n\n\n\n

\n
Estratificaci\u00f3n en neuropediatr\u00eda: <\/div><\/summary>
\n

La variaci\u00f3n en la rentabilidad diagn\u00f3stica en los distintos estudios se explica por la ausencia de estratificaci\u00f3n en funci\u00f3n de la severidad y los hallazgos asociados (otros trastornos com\u00f3rbidos, asociaci\u00f3n con malformaciones cong\u00e9nitas). <\/p>\n\n\n\n

Sigue siendo incierto<\/strong> si es util en los casos de discapacidad intelectual leve familiar<\/strong>. Probablemente la rentabilidad es a\u00fan menor en TEA grado 1 no sindr\u00f3mico<\/strong>. <\/p>\n\n\n\n

Por contra, cuando existen m\u00faltiples anomal\u00edas cong\u00e9nitas asociadas, la ACMG sigue recomend\u00e1ndolo como primera elecci\u00f3n a no ser que se sospeche un diagn\u00f3stico espec\u00edfico.<\/p>\n\n\n\n

Por lo tanto, tiene utilidad cl\u00ednica dividir los casos en simplex (no sindr\u00f3micos, aislados) vs complex (sindr\u00f3micos, afectaci\u00f3n m\u00e1s grave, comorbilidad)<\/strong>. <\/p>\n\n\n\n

Phenotype category and subcategory<\/th>CGH array Solved
N<\/em> (%)<\/th>		Clinical exome Solved
N<\/em> (%)<\/th><\/tr><\/thead>
GDD\/ID (all)<\/td>64 (8.4%)<\/td>44 (26.2%)a<\/sup><\/td><\/tr>
GDD\/ID isol<\/td>38 (6.9%)<\/td>11 (16.2%)a<\/sup><\/td><\/tr>
GDD\/ID\u2009+\u2009epi<\/td>6 (16.7%)<\/td>4 (26.7%)<\/td><\/tr>
GDD\/ID\u2009+\u2009micro\/macro<\/td>3 (8.3%)<\/td>5 (55.6%)a<\/sup><\/td><\/tr>
GDD\/ID synd<\/td>17 (12.1%)<\/td>24 (31.5%)a<\/sup><\/td><\/tr>
ASD (all)<\/td>13 (3.0%)<\/td>3 (6.1%)<\/td><\/tr>
ASD isol<\/td>11 (2.8%)<\/td>0 (\u2013)<\/td><\/tr>
ASD\u2009+\u2009epi<\/td>0 (\u2013)<\/td>1 (25.0%)<\/td><\/tr>
ASD\u2009+\u2009micro\/macro<\/td>0 (\u2013)<\/td>1 (25.0%)<\/td><\/tr>
ASD synd<\/td>2 (7.4%)<\/td>1 (11.1%)<\/td><\/tr>
Other NDDs (all)<\/td>3 (1.4%)<\/td>2 (7.1%)<\/td><\/tr>
Other isol<\/td>3 (1.8%)<\/td>2 (13.3%)<\/td><\/tr>
Other\u2009+\u2009epi<\/td>0 (\u2013)<\/td>0 (\u2013)<\/td><\/tr>
Other\u2009+\u2009micro\/macro<\/td>0 (\u2013)<\/td>0 (\u2013)<\/td><\/tr>
Other synd<\/td>0 (\u2013)<\/td>0 (\u2013)<\/td><\/tr>
Total<\/td>80 (5.7%)<\/td>49 (20%)a<\/sup><\/td><\/tr><\/tbody><\/table>
https:\/\/www.nature.com\/articles\/s41525-021-00188-7<\/figcaption><\/figure>\n<\/div><\/details>\n<\/div>\n\n\n\n

1. Moeschler JB, Shevell M; Committee on Genetics Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics<\/em> 2014;134(3):e903\u201318. [PubMed<\/a>] [Google Scholar<\/a>]<\/p>\n\n\n\n

2. American Academy of Neurology. Evaluation of the Child with Global Developmental Delay 2011. www.aan.com\/guidelines<\/a> (Accessed March 17, 2017).<\/p>\n\n\n\n

3. Silove N, Collins F, Ellaway C. Update on the investigation of children with delayed development. J Paediatr Child Health<\/em> 2013;49(7):519\u201325. [PubMed<\/a>] [Google Scholar<\/a>]<\/p>\n\n\n\n

4. Manning M, Hudgins L; Professional Practice and Guidelines Committee, American College of Medical Genetics Array-based Technology and Recommendations for Utilization in Medical Genetics Practice for Detection of Chromosomal Abnormalities 2010. www.acmg.net\/StaticContent\/PPG\/Array_based_technology_and_recommendations_for.13.pdf<\/a> (Accessed March 17, 2017).<\/p>\n","protected":false},"excerpt":{"rendered":"

El array de hibridaci\u00f3n gen\u00f3mica comparada (aCGH) es la exploraci\u00f3n complementaria gen\u00e9tica de primera elecci\u00f3n en ni\u00f1os con retraso global del desarrollo\/discapacidad intelectual y\/o malformaciones cong\u00e9nitas m\u00faltiples, seg\u00fan las guias cl\u00ednicas de la AAP, la AAN, la ISCA y la ACMG. 1. Moeschler JB, Shevell M; Committee on Genetics Comprehensive evaluation of the child with intellectual disability … <\/p>\n

Continue reading \u00abCriterios de realizaci\u00f3n de aCGH.\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":2695,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-2694","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2694","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=2694"}],"version-history":[{"count":0,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2694\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2695"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2694"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2694"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2694"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}