{"id":597,"date":"2024-01-09T15:35:10","date_gmt":"2024-01-09T21:35:10","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=597"},"modified":"2024-01-18T14:15:12","modified_gmt":"2024-01-18T20:15:12","slug":"trisomy-18p-treatment-and-surveillance","status":"publish","type":"page","link":"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-treatment-and-surveillance\/","title":{"rendered":"Trisomy 18p: Treatment and Surveillance"},"content":{"rendered":"<div class=\"wpb-content-wrapper\"><p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]<img loading=\"lazy\" decoding=\"async\" class=\"alignright wp-image-824\" src=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Screen-Shot-2021-05-17-at-4.57.45-PM-768x763-1-403x400.png\" alt=\"\" width=\"302\" height=\"300\" srcset=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Screen-Shot-2021-05-17-at-4.57.45-PM-768x763-1-403x400.png 403w, https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Screen-Shot-2021-05-17-at-4.57.45-PM-768x763-1-554x550.png 554w, https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Screen-Shot-2021-05-17-at-4.57.45-PM-768x763-1-640x636.png 640w, https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Screen-Shot-2021-05-17-at-4.57.45-PM-768x763-1.png 768w\" sizes=\"auto, (max-width: 639px) 98vw, (max-width: 1199px) 64vw, 302px\" \/>(Aliases: partial trisomy 18)<br \/>\nICD-10 = Q93.2<\/p>\n<p><em>These recommendations are based primarily on the medical literature and therefore can be incomplete. It should be noted that there is a great deal of variation among individuals with Trisomy 18p. Not all complications or concerns will be listed in this document. However, the recommendations contained here should be used as a baseline for monitoring and the health of individuals with Trisomy 18p.<\/em><\/p>\n<p>There are 27 cases reported in the literature. These cases did not have additional chromosomal copy number changes and were not mosaic. This included:<\/p>\n<ul>\n<li>14 males and 13 females<\/li>\n<li>11 were identified incidentally; not related to the person\u2019s own developmental delay or intellectual disability.<\/li>\n<\/ul>\n<p>*Not every aspect was described for every patient especially for the incidentally identified cases. Therefore the denominator may be different for different phenotypes[\/vc_column_text][vc_row_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_column_text]<strong>Potential conditions in a neonate:<\/strong><\/p>\n<ul>\n<li>Birth weight mean 20th percentile<\/li>\n<li>Birth length mean 25th percentile<\/li>\n<li>OFC mean 50th percentile<\/li>\n<li>Neonatal complications\n<ul>\n<li>None occurred in more than single cases<\/li>\n<\/ul>\n<\/li>\n<li>Congenital malformations\n<ul>\n<li>Cryptorchidism in 21% of males<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p><strong>Immediate Referrals to:<\/strong><\/p>\n<ul>\n<li>Appropriate subspecialist as indicated by initial evaluations<\/li>\n<li>Genetics follow-up if not previous to diagnosis<\/li>\n<li>Early intervention\/developmental services<\/li>\n<li>The Chromosome 18 Registry &amp; Research Society<\/li>\n<li>The Chromosome 18 Clinical Research Center<\/li>\n<\/ul>\n<p>[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_column_text]<strong>Closely monitor and manage:<\/strong><\/p>\n<ul>\n<li>Psychomotor development\n<ul>\n<li>1 normal, 4 slight delay, 4 delayed<\/li>\n<\/ul>\n<\/li>\n<li>Intellectual Development\n<ul>\n<li>7 normal, 10 mild ID or LD, 5 moderate ID<\/li>\n<\/ul>\n<\/li>\n<li>Neurology\n<ul>\n<li>Seizures, childhood onset \u2013 11%<\/li>\n<li>Facial nerve palsy, congenital \u2013 7%<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>Hearing<\/p>\n<ul>\n<li>Hearing loss- 11%<\/li>\n<\/ul>\n<p>Adult Outcomes<\/p>\n<ul>\n<li>5 of 5 adult females had children<\/li>\n<li>No males had children<\/li>\n<li>2 males had oligospermia<\/li>\n<\/ul>\n<p>[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_row_inner][vc_column_inner][vc_column_text]There is additional information on each of the areas mentioned above within the\u00a0<a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Trisomy18pTx-Surveil.pdf\">downloadable PDF document.<\/a><\/p>\n<p>Updated 2020[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][vc_column width=&#8221;1\/3&#8243;]<nav id=\"subnav\" class=\"null\" aria-label=\"Sub navigation for Chromosome 18 Subnav\"><ul id=\"menu-chromosome-18-subnav\" class=\"subnav vertical menu accordion-menu\" data-accordion-menu><li id=\"menu-item-506\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-home menu-item-506\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/\">Home<\/a><\/li>\n<li id=\"menu-item-507\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-507\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/about-us\/\">About Us<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-640\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-640\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/about-us\/our-team\/\">Our Team<\/a><\/li>\n\t<li id=\"menu-item-639\" 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menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-649\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=561\">Phenotype Track<\/a>\n\t<ul class=\"sub-menu\">\n\t\t<li id=\"menu-item-858\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-858\"><a href=\"https:\/\/genome.ucsc.edu\/cgi-bin\/hgTracks?db=hg19&#038;lastVirtModeType=default&#038;lastVirtModeExtraState=&#038;virtModeType=default&#038;virtMode=0&#038;nonVirtPosition=&#038;position=chr18%3A1%2D78077248&#038;hgsid=1884264926_hn6iHMJzv9LO3nFmOdJiwp3soiMC\">Phenotype Deletion Map<\/a><\/li>\n\t\t<li id=\"menu-item-859\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-859\"><a href=\"https:\/\/genome.ucsc.edu\/cgi-bin\/hgTracks?db=hg19&#038;lastVirtModeType=default&#038;lastVirtModeExtraState=&#038;virtModeType=default&#038;virtMode=0&#038;nonVirtPosition=&#038;position=chr18%3A1%2D78077248&#038;hgsid=1884265652_EZW3C1gYccZy8K8mq1vjkNvPnA1w\">Phenotype Duplication Map<\/a><\/li>\n\t<\/ul>\n<\/li>\n\t<li id=\"menu-item-735\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-735\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research-1\/publications\/\">Publications<\/a><\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-509\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-509\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/our-program\/\">Our Program<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-650\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-650\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/our-program\/current-studies\/\">Current Studies<\/a><\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-510\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-510\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/enrollment\/\">Enrollment<\/a><\/li>\n<li id=\"menu-item-511\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-511\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/\">Resources<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-651\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-651\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/\">Clinical Management Guides<\/a>\n\t<ul class=\"sub-menu\">\n\t\t<li id=\"menu-item-666\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-666\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18q-summary\/\">What is 18q: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-656\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-656\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/distal-18q-treatment-and-surveillance\/\">Distal 18q- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-657\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-657\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/proximal-18q-treatment-and-surveillance\/\">Proximal 18q- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-667\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-667\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-summary\/\">What is Ring 18: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-659\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-659\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-treatment-and-surveillance-2\/\">Ring 18- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-850\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-850\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-distal-treatment-and-surveillance\/\">Ring 18 Distal- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-665\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-665\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-summary\/\">What is 18p: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-655\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-655\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-treatment-surveillance\/\">18p- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-660\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-660\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-summary\/\">Tetrasomy 18p: Sixty-Second Summary<\/a>\n\t\t<ul class=\"sub-menu\">\n\t\t\t<li id=\"menu-item-662\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-662\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/initial-evaluations\/\">Initial Evaluations After Diagnosis<\/a><\/li>\n\t\t\t<li id=\"menu-item-663\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-663\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/potential-conditions\/\">Potential Conditions in a Neonate<\/a><\/li>\n\t\t\t<li id=\"menu-item-661\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-661\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/immediate-referrals\/\">Immediate Referrals to<\/a><\/li>\n\t\t<\/ul>\n<\/li>\n\t\t<li id=\"menu-item-851\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-851\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/\">Tetrasomy 18p: Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-668\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-668\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-summary\/\">What is Trisomy 18p: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-664\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-664\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-treatment-and-surveillance\/\">Trisomy 18p: Treatment and Surveillance<\/a><\/li>\n\t<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-512\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-512\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/contact-us\/\">Contact Us<\/a><\/li>\n<li id=\"menu-item-669\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-669\"><a href=\"https:\/\/www.chromosome18.org\/\">Chromosome 18 Registry &amp; Research Society<\/a><\/li>\n<\/ul><\/nav> \n        <a class=\"callout panel-mobile text-center colorized\" href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Trisomy18pTx-Surveil.pdf\" >\n            <span class=\"fa-stack fa-2x\">\n            <i class=\"fas fa-circle fa-stack-2x\"><\/i>\n            <i class=\"fas fa-fas fa-file fa-stack-1x fa-inverse\"><\/i>\n            <\/span><h3 class=\" \">Trisomy 18p Treatment and Surveillance PDF<\/h3>\n        <\/a>[\/vc_column][\/vc_row]<\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text](Aliases: partial trisomy 18) ICD-10 = Q93.2 These recommendations are based primarily on the medical literature and therefore can be incomplete. It should be noted that there is a great deal of variation among individuals with Trisomy 18p. Not all complications or concerns will be listed in this document. However, the recommendations contained here [&hellip;]<\/p>\n","protected":false},"author":326,"featured_media":398,"parent":569,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"page-templates\/basic-page.php","meta":{"footnotes":""},"categories":[],"class_list":["post-597","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Trisomy 18p: Treatment and Surveillance - Chromosome 18<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-treatment-and-surveillance\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Trisomy 18p: Treatment and Surveillance - Chromosome 18\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text](Aliases: partial trisomy 18) ICD-10 = Q93.2 These recommendations are based primarily on the medical literature and therefore can be incomplete. It should be noted that there is a great deal of variation among individuals with Trisomy 18p. Not all complications or concerns will be listed in this document. 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It should be noted that there is a great deal of variation among individuals with Trisomy 18p. Not all complications or concerns will be listed in this document. 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