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<!--
|
||
UID=1384417
|
||
ConceptID=C4317091
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Trisomy 18</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1384417</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317091</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Chromosome 18 trisomy; Edwards syndrome</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_989040"><div><strong>Unknown inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989040</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">Hereditary clinical entity whose mode of inheritance is unknown.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989040">This record</a></div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_989040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unknown inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018071" target="_blank">MONDO:0018071</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3380">ORPHA3380</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0008626[DISCUI]&test_type=Clinical" ref="ncbi_uid=3441">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0008626[DISCUI]&test_type=Research" ref="ncbi_uid=3441">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/3441" ref="tree=GTR&ncbi_uid=3441&link_uid=3441" title="View MedGen record for 'Congenital chromosomal disease'">Congenital chromosomal disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1843454" ref="tree=GTR&ncbi_uid=1843454&link_uid=1843454" title="View MedGen record for 'Autosomal anomaly'">Autosomal anomaly</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN293936[DISCUI]&test_type=Clinical" ref="ncbi_uid=977694">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/977694" ref="tree=GTR&ncbi_uid=977694&link_uid=977694" title="View MedGen record for 'Autosomal monosomy'">Autosomal monosomy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0035639[DISCUI]&test_type=Clinical" ref="ncbi_uid=11248">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/11248" ref="tree=GTR&ncbi_uid=11248&link_uid=11248" title="View MedGen record for 'Ring chromosome'">Ring chromosome</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0969687[DISCUI]&test_type=Clinical" ref="ncbi_uid=199033">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0969687[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=199033">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/199033" ref="tree=GTR&ncbi_uid=199033&link_uid=199033" title="View MedGen record for 'Autosomal chromosomal disorder'">Autosomal chromosomal disorder</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0795849[DISCUI]&test_type=Clinical" ref="ncbi_uid=162780">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/162780" ref="tree=GTR&ncbi_uid=162780&link_uid=162780" title="View MedGen record for 'Chromosome 13q trisomy'">Chromosome 13q trisomy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0795807[DISCUI]&test_type=Clinical" ref="ncbi_uid=167068">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/167068" ref="tree=GTR&ncbi_uid=167068&link_uid=167068" title="View MedGen record for 'Chromosome 3, trisomy 3p'">Chromosome 3, trisomy 3p</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931575[DISCUI]&test_type=Clinical" ref="ncbi_uid=419839">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/419839" ref="tree=GTR&ncbi_uid=419839&link_uid=419839" title="View MedGen record for 'Chromosome 5, trisomy 5p'">Chromosome 5, trisomy 5p</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0152095[DISCUI]&test_type=Clinical" ref="ncbi_uid=56261">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=56261" ref="ncbi_uid=56261">V</a></span></span><span class="TLline"><a href="/medgen/56261" ref="tree=GTR&ncbi_uid=56261&link_uid=56261" title="View MedGen record for 'Complete trisomy 13 syndrome'">Complete trisomy 13 syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265479[DISCUI]&test_type=Clinical" ref="ncbi_uid=120542">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/120542" ref="tree=GTR&ncbi_uid=120542&link_uid=120542" title="View MedGen record for 'Complete trisomy 20 syndrome'">Complete trisomy 20 syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0013080[DISCUI]&test_type=Clinical" ref="ncbi_uid=4385">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0013080[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=4385">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=4385" target="_blank" href="/omim/190685">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=4385" ref="ncbi_uid=4385">V</a></span></span><span class="TLline"><a href="/medgen/4385" ref="tree=GTR&ncbi_uid=4385&link_uid=4385" title="View MedGen record for 'Down syndrome'">Down syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/693553" ref="tree=GTR&ncbi_uid=693553&link_uid=693553" title="View MedGen record for 'Translocation Down syndrome'">Translocation Down syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/760825" ref="tree=GTR&ncbi_uid=760825&link_uid=760825" title="View MedGen record for 'Trisomy 21'">Trisomy 21</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0432412[DISCUI]&test_type=Clinical" ref="ncbi_uid=98158">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/98158" ref="tree=GTR&ncbi_uid=98158&link_uid=98158" title="View MedGen record for 'Trisomy 8'">Trisomy 8</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4317091[DISCUI]&test_type=Clinical" ref="ncbi_uid=1384417">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1384417" ref="ncbi_uid=1384417">V</a></span></span><span class="TLline">Trisomy 18</span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/988614" ref="tree=GTR&ncbi_uid=988614&link_uid=988614" title="View MedGen record for 'Ring chromosome anomaly'">Ring chromosome anomaly</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0949683[DISCUI]&test_type=Clinical" ref="ncbi_uid=183658">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/183658" ref="tree=GTR&ncbi_uid=183658&link_uid=183658" title="View MedGen record for 'Sex-linked hereditary disorder'">Sex-linked hereditary disorder</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="matched_ds">Trisomy 18</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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|
||
<div class="portlet mgSection" id="ID_105">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37888534">Gabapentin for treatment of apnea in infants with trisomy 13 and 18.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yotani N,
|
||
Isayama T,
|
||
Ito Y</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2023 Jan-Dec;65(1):e15646.
|
||
doi: 10.1111/ped.15646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37888534" target="_blank">37888534</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36524989">Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dungan JS,
|
||
Klugman S,
|
||
Darilek S,
|
||
Malinowski J,
|
||
Akkari YMN,
|
||
Monaghan KG,
|
||
Erwin A,
|
||
Best RG;
|
||
ACMG Board of Directors. Electronic address: documents@acmg.net</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2023 Feb;25(2):100336.
|
||
Epub 2022 Dec 16
|
||
doi: 10.1016/j.gim.2022.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36524989" target="_blank">36524989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34171388">Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org,
|
||
Prabhu M,
|
||
Kuller JA,
|
||
Biggio JR</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2021 Oct;225(4):B2-B15.
|
||
Epub 2021 Jun 23
|
||
doi: 10.1016/j.ajog.2021.06.079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34171388" target="_blank">34171388</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22trisomy%2018%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (219)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Trisomy-18.pdf" target="_blank">American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 18: Positive Cell Free DNA Screen, 2021</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37986093">Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elmerdahl Frederiksen L,
|
||
Ølgaard SM,
|
||
Roos L,
|
||
Petersen OB,
|
||
Rode L,
|
||
Hartwig T,
|
||
Ekelund CK;
|
||
Danish Central Cytogenetics Registry Study Group,
|
||
Vogel I</span><br />
|
||
<span class="medgenPMjournal">Acta Obstet Gynecol Scand</span>
|
||
2024 Feb;103(2):351-359.
|
||
Epub 2023 Nov 20
|
||
doi: 10.1111/aogs.14713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37986093" target="_blank">37986093</a><a href="/pmc/articles/PMC10823394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35608568">Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rose NC,
|
||
Barrie ES,
|
||
Malinowski J,
|
||
Jenkins GP,
|
||
McClain MR,
|
||
LaGrave D,
|
||
Leung ML;
|
||
ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Jul;24(7):1379-1391.
|
||
Epub 2022 May 24
|
||
doi: 10.1016/j.gim.2022.03.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35608568" target="_blank">35608568</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32815676">Prenatally Diagnosed Fetal Aneuploidy: Natural History and Subsequent Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murphy NC,
|
||
Dunne H,
|
||
Flood K</span><br />
|
||
<span class="medgenPMjournal">Ir Med J</span>
|
||
2020 Mar 13;113(3):34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32815676" target="_blank">32815676</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31708118">TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Meij KRM,
|
||
Sistermans EA,
|
||
Macville MVE,
|
||
Stevens SJC,
|
||
Bax CJ,
|
||
Bekker MN,
|
||
Bilardo CM,
|
||
Boon EMJ,
|
||
Boter M,
|
||
Diderich KEM,
|
||
de Die-Smulders CEM,
|
||
Duin LK,
|
||
Faas BHW,
|
||
Feenstra I,
|
||
Haak MC,
|
||
Hoffer MJV,
|
||
den Hollander NS,
|
||
Hollink IHIM,
|
||
Jehee FS,
|
||
Knapen MFCM,
|
||
Kooper AJA,
|
||
van Langen IM,
|
||
Lichtenbelt KD,
|
||
Linskens IH,
|
||
van Maarle MC,
|
||
Oepkes D,
|
||
Pieters MJ,
|
||
Schuring-Blom GH,
|
||
Sikkel E,
|
||
Sikkema-Raddatz B,
|
||
Smeets DFCM,
|
||
Srebniak MI,
|
||
Suijkerbuijk RF,
|
||
Tan-Sindhunata GM,
|
||
van der Ven AJEM,
|
||
van Zelderen-Bhola SL,
|
||
Henneman L,
|
||
Galjaard RH,
|
||
Van Opstal D,
|
||
Weiss MM;
|
||
Dutch NIPT Consortium</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2019 Dec 5;105(6):1091-1101.
|
||
Epub 2019 Nov 7
|
||
doi: 10.1016/j.ajhg.2019.10.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31708118" target="_blank">31708118</a><a href="/pmc/articles/PMC6904791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23088440">The trisomy 18 syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cereda A,
|
||
Carey JC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2012 Oct 23;7:81.
|
||
doi: 10.1186/1750-1172-7-81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23088440" target="_blank">23088440</a><a href="/pmc/articles/PMC3520824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trisomy%2018%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1191)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/23703053">Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rosa RF,
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<div class="portlet_content ln"><span class="medgenPMauthor">Cereda A,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trisomy%2018%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1495)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35608568">Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31787159">Radial Ray Malformation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
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Gandhi M,
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<div class="nl"><a target="_blank" href="/pubmed/28397325">Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33168220">Dandy-Walker Malformation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
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Monteagudo A</span><br />
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<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
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Monteagudo A</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/27927129">Edwards' syndrome.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23703053">Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rosa RF,
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Rosa RC,
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Zen PR,
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Graziadio C,
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<span class="medgenPMjournal">Rev Paul Pediatr</span>
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2013 Jan-Mar;31(1):111-20.
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<span class="bold">PMID: </span><a href="/pubmed/23703053" target="_blank">23703053</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23088440">The trisomy 18 syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cereda A,
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<span class="bold">PMID: </span><a href="/pubmed/23088440" target="_blank">23088440</a><a href="/pmc/articles/PMC3520824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trisomy%2018%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (637)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38884729">Human Genetics of Ventricular Septal Defect.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Perrot A,
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<div class="nl"><a target="_blank" href="/pubmed/31708118">TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van der Meij KRM,
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Sistermans EA,
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Macville MVE,
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Stevens SJC,
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Bax CJ,
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Bekker MN,
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Bilardo CM,
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Boon EMJ,
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Boter M,
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Diderich KEM,
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de Die-Smulders CEM,
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Duin LK,
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Faas BHW,
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Haak MC,
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Hoffer MJV,
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Hollink IHIM,
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Jehee FS,
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Knapen MFCM,
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Kooper AJA,
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van Langen IM,
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Linskens IH,
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van Maarle MC,
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Oepkes D,
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Pieters MJ,
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Schuring-Blom GH,
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Sikkel E,
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Sikkema-Raddatz B,
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Smeets DFCM,
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Srebniak MI,
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Suijkerbuijk RF,
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Tan-Sindhunata GM,
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van Zelderen-Bhola SL,
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<div class="nl"><a target="_blank" href="/pubmed/31580536">National population-based estimates for major birth defects, 2010-2014.</a></div>
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Isenburg JL,
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Canfield MA,
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Correa A,
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Lupo PJ,
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Cho SJ,
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||
|
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<div class="nl"><a target="_blank" href="/pubmed/23703053">Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rosa RF,
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Rosa RC,
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Zen PR,
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Graziadio C,
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Paskulin GA</span><br />
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<span class="medgenPMjournal">Rev Paul Pediatr</span>
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<span class="bold">PMID: </span><a href="/pubmed/23703053" target="_blank">23703053</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20059439">Outcomes for fetal echogenic bowel during the second trimester ultrasound.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Iruretagoyena JI,
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Bankowsky H,
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Birkeland L,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trisomy%2018%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (657)</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_104">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/35608568">Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Rose NC,
|
||
Barrie ES,
|
||
Malinowski J,
|
||
Jenkins GP,
|
||
McClain MR,
|
||
LaGrave D,
|
||
Leung ML;
|
||
ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2022 Jul;24(7):1379-1391.
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Epub 2022 May 24
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doi: 10.1016/j.gim.2022.03.019.
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||
<span class="bold">PMID: </span><a href="/pubmed/35608568" target="_blank">35608568</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/27889224">Fetal megacystis: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Taghavi K,
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Sharpe C,
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<span class="medgenPMjournal">J Pediatr Urol</span>
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2017 Feb;13(1):7-15.
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Epub 2016 Oct 8
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<span class="bold">PMID: </span><a href="/pubmed/27889224" target="_blank">27889224</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27474103">A tumor profile in Edwards syndrome (trisomy 18).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Satgé D,
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Nishi M,
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Sirvent N,
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Vekemans M</span><br />
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<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
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2016 Sep;172(3):296-306.
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<span class="bold">PMID: </span><a href="/pubmed/27474103" target="_blank">27474103</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26781507">Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Taylor-Phillips S,
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Freeman K,
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Geppert J,
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Agbebiyi A,
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Uthman OA,
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Madan J,
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Clarke A,
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<span class="bold">PMID: </span><a href="/pubmed/26781507" target="_blank">26781507</a><a href="/pmc/articles/PMC4735304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/26400291">Systematic review of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using free fetal DNA in maternal plasma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yang H,
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Xu HB,
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Liu TT,
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<span class="bold">PMID: </span><a href="/pubmed/26400291" target="_blank">26400291</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trisomy%2018%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (25)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4317091%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
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<li><a href="/gtr/tests?term=C4317091%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (3)</a></li>
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<li><a href="/gtr/tests?term=C4317091%5bDISCUI%5d&filter=method%3A3%5F32" target="_blank">Karyotyping (18)</a></li>
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<li><a href="/gtr/tests?term=C4317091%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
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<li><a href="/gtr/tests?term=C4317091%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
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<li><a href="/gtr/tests?term=C4317091%5bDISCUI%5d&filter=method%3A2%5F20" target="_blank">Uniparental disomy study (UPD) (1)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4317091%5bDISCUI%5d" target="_blank">See all (36)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22trisomy%2018%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Trisomy%2018%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Trisomy-18.pdf">ACMG ACT, 2021</a><div>American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 18: Positive Cell Free DNA Screen, 2021</div></li></ul></div>
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