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||
<!--
|
||
UID=3441
|
||
ConceptID=C0008626
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital chromosomal disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3441</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.">C0008626</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>chromosomal abnormality; Chromosomal anomaly; Chromosomal disorder</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Chromosomopathy (74345006); Chromosomal abnormality syndrome (74345006); Chromosomal hereditary disorder (74345006); Chromosomal imbalance syndrome (74345006); Anomaly of chromosome (74345006); Congenital chromosomal disease (74345006); Chromosomal disorder (409709004); Congenital disorder due to abnormality of chromosome number OR structure (74345006); Chromosomal anomaly (409709004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019040" target="_blank">MONDO:0019040</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=68335">ORPHA68335</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>
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<div class="portlet mgSection" id="ID_100">
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||
<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">A disorder that results from a chromosomal abnormality. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
||
</div>
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|
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<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="matched_ds"><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">Congenital chromosomal disease</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="TLclosed"><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"><a href="/medgen/1384417" ref="tree=GTR&ncbi_uid=1384417&link_uid=1384417" title="View MedGen record for 'Trisomy 18'">Trisomy 18</a></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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="matched_ds">Congenital chromosomal disease</span><ul><li><span class="TLline"><a href="/medgen/64512" ref="tree=MeSH" title="MedGen record for 11p partial monosomy syndrome">11p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162878" ref="tree=MeSH" title="MedGen record for 11q partial monosomy syndrome">11q partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/422333" ref="tree=MeSH" title="MedGen record for 22q11 Deletion Syndrome">22q11 Deletion Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/4297" ref="tree=MeSH" title="MedGen record for DiGeorge syndrome">DiGeorge syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/408255" ref="tree=MeSH" title="MedGen record for 4p partial monosomy syndrome">4p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41345" ref="tree=MeSH" title="MedGen record for 5p partial monosomy syndrome">5p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/58144" ref="tree=MeSH" title="MedGen record for Angelman syndrome">Angelman syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842258" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to a point mutation">Angelman syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826135" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to imprinting defect in 15q11-q13">Angelman syndrome due to imprinting defect in 15q11-q13</a></span></li><li><span class="TLline"><a href="/medgen/1797757" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to maternal 15q11q13 deletion">Angelman syndrome due to maternal 15q11q13 deletion</a></span></li><li><span class="TLline"><a href="/medgen/1826078" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to paternal uniparental disomy of chromosome 15">Angelman syndrome due to paternal uniparental disomy of chromosome 15</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1843454" ref="tree=MeSH" title="MedGen record for Autosomal anomaly">Autosomal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/977694" ref="tree=MeSH" title="MedGen record for Autosomal monosomy">Autosomal monosomy</a></span><ul><li><span class="TLline"><a href="/medgen/11248" ref="tree=MeSH" title="MedGen record for Ring chromosome">Ring chromosome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/199033" ref="tree=MeSH" title="MedGen record for Autosomal chromosomal disorder">Autosomal chromosomal disorder</a></span><ul><li><span class="TLline"><a href="/medgen/162780" ref="tree=MeSH" title="MedGen record for Chromosome 13q trisomy">Chromosome 13q trisomy</a></span><ul><li><span class="TLline"><a href="/medgen/1639680" ref="tree=MeSH" title="MedGen record for Distal trisomy 13q">Distal trisomy 13q</a></span></li><li><span class="TLline"><a href="/medgen/1637117" ref="tree=MeSH" title="MedGen record for Non-distal trisomy 13q">Non-distal trisomy 13q</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/167068" ref="tree=MeSH" title="MedGen record for Chromosome 3, trisomy 3p">Chromosome 3, trisomy 3p</a></span></li><li><span class="TLline"><a href="/medgen/419839" ref="tree=MeSH" title="MedGen record for Chromosome 5, trisomy 5p">Chromosome 5, trisomy 5p</a></span></li><li><span class="TLline"><a href="/medgen/56261" ref="tree=MeSH" title="MedGen record for Complete trisomy 13 syndrome">Complete trisomy 13 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120542" ref="tree=MeSH" title="MedGen record for Complete trisomy 20 syndrome">Complete trisomy 20 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4385" ref="tree=MeSH" title="MedGen record for Down syndrome">Down syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/693553" ref="tree=MeSH" title="MedGen record for Translocation Down syndrome">Translocation Down syndrome</a></span></li><li><span class="TLline"><a href="/medgen/760825" ref="tree=MeSH" title="MedGen record for Trisomy 21">Trisomy 21</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98158" ref="tree=MeSH" title="MedGen record for Trisomy 8">Trisomy 8</a></span></li><li><span class="TLline"><a href="/medgen/1384417" ref="tree=MeSH" title="MedGen record for Trisomy 18">Trisomy 18</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2562" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome">Beckwith-Wiedemann syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826104" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microdeletion">Beckwith-Wiedemann syndrome due to 11p15 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1826126" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microduplication">Beckwith-Wiedemann syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826105" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion">Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion</a></span></li><li><span class="TLline"><a href="/medgen/1826157" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to CDKN1C mutation">Beckwith-Wiedemann syndrome due to CDKN1C mutation</a></span></li><li><span class="TLline"><a href="/medgen/1842606" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to imprinting defect of 11p15">Beckwith-Wiedemann syndrome due to imprinting defect of 11p15</a></span></li><li><span class="TLline"><a href="/medgen/1825953" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to NSD1 mutation">Beckwith-Wiedemann syndrome due to NSD1 mutation</a></span></li><li><span class="TLline"><a href="/medgen/1843183" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11">Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78752" ref="tree=MeSH" title="MedGen record for De Lange syndrome">De Lange syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/315658" ref="tree=MeSH" title="MedGen record for Congenital muscular hypertrophy-cerebral syndrome">Congenital muscular hypertrophy-cerebral syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1645760" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 1">Cornelia de Lange syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/339902" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 3">Cornelia de Lange syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/766431" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 4">Cornelia de Lange syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/763817" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 5">Cornelia de Lange syndrome 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/38214" ref="tree=MeSH" title="MedGen record for Holoprosencephaly sequence">Holoprosencephaly sequence</a></span><ul><li><span class="TLline"><a href="/medgen/78541" ref="tree=MeSH" title="MedGen record for Agnathia-otocephaly complex">Agnathia-otocephaly complex</a></span></li><li><span class="TLline"><a href="/medgen/140909" ref="tree=MeSH" title="MedGen record for Alobar holoprosencephaly">Alobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/382704" ref="tree=MeSH" title="MedGen record for Chromosome 1q41-q42 deletion syndrome">Chromosome 1q41-q42 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/452352" ref="tree=MeSH" title="MedGen record for Ethmocephaly">Ethmocephaly</a></span></li><li><span class="TLline"><a href="/medgen/335111" ref="tree=MeSH" title="MedGen record for Hartsfield-Bixler-Demyer syndrome">Hartsfield-Bixler-Demyer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78617" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 1">Holoprosencephaly 1</a></span></li><li><span class="TLline"><a href="/medgen/322517" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 2">Holoprosencephaly 2</a></span></li><li><span class="TLline"><a href="/medgen/327125" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 3">Holoprosencephaly 3</a></span></li><li><span class="TLline"><a href="/medgen/374488" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 4">Holoprosencephaly 4</a></span></li><li><span class="TLline"><a href="/medgen/355304" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 5">Holoprosencephaly 5</a></span></li><li><span class="TLline"><a href="/medgen/342979" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 6">Holoprosencephaly 6</a></span></li><li><span class="TLline"><a href="/medgen/372134" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 7">Holoprosencephaly 7</a></span></li><li><span class="TLline"><a href="/medgen/322873" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 8">Holoprosencephaly 8</a></span></li><li><span class="TLline"><a href="/medgen/324369" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 9">Holoprosencephaly 9</a></span></li><li><span class="TLline"><a href="/medgen/441620" ref="tree=MeSH" title="MedGen record for Holoprosencephaly caudal dysgenesis">Holoprosencephaly caudal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/441187" ref="tree=MeSH" title="MedGen record for Holoprosencephaly deletion 2p">Holoprosencephaly deletion 2p</a></span></li><li><span class="TLline"><a href="/medgen/441188" ref="tree=MeSH" title="MedGen record for Holoprosencephaly ectrodactyly cleft lip palate">Holoprosencephaly ectrodactyly cleft lip palate</a></span></li><li><span class="TLline"><a href="/medgen/441189" ref="tree=MeSH" title="MedGen record for Holoprosencephaly radial heart renal anomalies">Holoprosencephaly radial heart renal anomalies</a></span></li><li><span class="TLline"><a href="/medgen/343987" ref="tree=MeSH" title="MedGen record for Holoprosencephaly, recurrent infections, and monocytosis">Holoprosencephaly, recurrent infections, and monocytosis</a></span></li><li><span class="TLline"><a href="/medgen/330464" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-craniosynostosis syndrome">Holoprosencephaly-craniosynostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336097" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-hypokinesia-congenital contractures syndrome">Holoprosencephaly-hypokinesia-congenital contractures syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340382" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-postaxial polydactyly syndrome">Holoprosencephaly-postaxial polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343380" ref="tree=MeSH" title="MedGen record for Lambotte syndrome">Lambotte syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96559" ref="tree=MeSH" title="MedGen record for Lobar holoprosencephaly">Lobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/798407" ref="tree=MeSH" title="MedGen record for Midline interhemispheric variant of holoprosencephaly">Midline interhemispheric variant of holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/468539" ref="tree=MeSH" title="MedGen record for NODAL-Related Holoprosencephaly">NODAL-Related Holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/199694" ref="tree=MeSH" title="MedGen record for Semilobar holoprosencephaly">Semilobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1843386" ref="tree=MeSH" title="MedGen record for Septopreoptic holoprosencephaly">Septopreoptic holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1708682" ref="tree=MeSH" title="MedGen record for Syntelencephaly">Syntelencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82693" ref="tree=MeSH" title="MedGen record for Melnick-Fraser syndrome">Melnick-Fraser syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641418" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome">Mosaic variegated aneuploidy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/338026" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 1">Mosaic variegated aneuploidy syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/481473" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 2">Mosaic variegated aneuploidy syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1616382" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 3">Mosaic variegated aneuploidy syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/46057" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome">Prader-Willi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826086" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to imprinting mutation">Prader-Willi syndrome due to imprinting mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826079" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15">Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15</a></span></li><li><span class="TLline"><a href="/medgen/1826129" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to paternal 15q11q13 deletion">Prader-Willi syndrome due to paternal 15q11q13 deletion</a></span></li><li><span class="TLline"><a href="/medgen/1826085" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to translocation">Prader-Willi syndrome due to translocation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/988614" ref="tree=MeSH" title="MedGen record for Ring chromosome anomaly">Ring chromosome anomaly</a></span></li><li><span class="TLline"><a href="/medgen/48517" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome">Rubinstein-Taybi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/350477" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to 16p13.3 microdeletion">Rubinstein-Taybi syndrome due to 16p13.3 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1639327" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to CREBBP mutations">Rubinstein-Taybi syndrome due to CREBBP mutations</a></span></li><li><span class="TLline"><a href="/medgen/462291" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency">Rubinstein-Taybi syndrome due to EP300 haploinsufficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104492" ref="tree=MeSH" title="MedGen record for Russell-Silver syndrome">Russell-Silver syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1718472" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 1">Silver-Russell syndrome 1</a></span><ul><li><span class="TLline"><a href="/medgen/1826102" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to an imprinting defect of 11p15">Silver-Russell syndrome due to an imprinting defect of 11p15</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1714148" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 2">Silver-russell syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/894912" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 3">Silver-Russell syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712866" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 4">Silver-russell syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1713787" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 5">Silver-Russell syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1826103" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 11p15 microduplication">Silver-Russell syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826059" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 7p11.2p13 microduplication">Silver-Russell syndrome due to 7p11.2p13 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1843388" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to a point mutation">Silver-Russell syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826074" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7</a></span></li><li><span class="TLline"><a href="/medgen/1843295" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/183658" ref="tree=MeSH" title="MedGen record for Sex-linked hereditary disorder">Sex-linked hereditary disorder</a></span><ul><li><span class="TLline"><a href="/medgen/8912" ref="tree=MeSH" title="MedGen record for Fragile X syndrome">Fragile X syndrome</a></span></li><li><span class="TLline"><a href="/medgen/14518" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome">Orofaciodigital syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/10077" ref="tree=MeSH" title="MedGen record for Mohr syndrome">Mohr syndrome</a></span></li><li><span class="TLline"><a href="/medgen/993107" ref="tree=MeSH" title="MedGen record for Oral-facial-digital syndrome with short stature and brachymesophalangy">Oral-facial-digital syndrome with short stature and brachymesophalangy</a></span></li><li><span class="TLline"><a href="/medgen/96069" ref="tree=MeSH" title="MedGen record for Orofacial-digital syndrome III">Orofacial-digital syndrome III</a></span></li><li><span class="TLline"><a href="/medgen/98358" ref="tree=MeSH" title="MedGen record for Orofacial-digital syndrome IV">Orofacial-digital syndrome IV</a></span></li><li><span class="TLline"><a href="/medgen/307142" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome I">Orofaciodigital syndrome I</a></span></li><li><span class="TLline"><a href="/medgen/162908" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome IX">Orofaciodigital syndrome IX</a></span></li><li><span class="TLline"><a href="/medgen/411200" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 6">Orofaciodigital syndrome type 6</a></span></li><li><span class="TLline"><a href="/medgen/420948" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 12">Orofaciodigital syndrome type 12</a></span></li><li><span class="TLline"><a href="/medgen/420203" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 13">Orofaciodigital syndrome type 13</a></span></li><li><span class="TLline"><a href="/medgen/1635470" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 14">Orofaciodigital syndrome type 14</a></span></li><li><span class="TLline"><a href="/medgen/358131" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome V">Orofaciodigital syndrome V</a></span></li><li><span class="TLline"><a href="/medgen/208667" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome VIII">Orofaciodigital syndrome VIII</a></span></li><li><span class="TLline"><a href="/medgen/322280" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome X">Orofaciodigital syndrome X</a></span></li><li><span class="TLline"><a href="/medgen/416694" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome XI">Orofaciodigital syndrome XI</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/423530" ref="tree=MeSH" title="MedGen record for Sex chromosome disorder of sex development">Sex chromosome disorder of sex development</a></span><ul><li><span class="TLline"><a href="/medgen/963057" ref="tree=MeSH" title="MedGen record for 45,X/46,XY mixed gonadal dysgenesis">45,X/46,XY mixed gonadal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/452344" ref="tree=MeSH" title="MedGen record for 48,XXXY syndrome">48,XXXY syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75573" ref="tree=MeSH" title="MedGen record for 49,XXXXY syndrome">49,XXXXY syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42099" ref="tree=MeSH" title="MedGen record for Freemartinism">Freemartinism</a></span></li><li><span class="TLline"><a href="/medgen/44033" ref="tree=MeSH" title="MedGen record for Klinefelter syndrome">Klinefelter syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6654" ref="tree=MeSH" title="MedGen record for Mixed gonadal dysgenesis">Mixed gonadal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/609542" ref="tree=MeSH" title="MedGen record for Tetragametic chimerism">Tetragametic chimerism</a></span></li><li><span class="TLline"><a href="/medgen/21734" ref="tree=MeSH" title="MedGen record for Turner syndrome">Turner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/422434" ref="tree=MeSH" title="MedGen record for XXYY syndrome">XXYY syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/162881" ref="tree=MeSH" title="MedGen record for Smith-Magenis syndrome">Smith-Magenis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61232" ref="tree=MeSH" title="MedGen record for Sotos syndrome">Sotos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1379406" ref="tree=MeSH" title="MedGen record for Trisomy 13 Syndromes">Trisomy 13 Syndromes</a></span></li><li><span class="TLline"><a href="/medgen/59799" ref="tree=MeSH" title="MedGen record for Williams syndrome">Williams syndrome</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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/32804883">Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics;
|
||
Committee on Genetics;
|
||
Society for Maternal-Fetal Medicine</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2020 Oct;136(4):e48-e69.
|
||
doi: 10.1097/AOG.0000000000004084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32804883" target="_blank">32804883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29377879">Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brioude F,
|
||
Kalish JM,
|
||
Mussa A,
|
||
Foster AC,
|
||
Bliek J,
|
||
Ferrero GB,
|
||
Boonen SE,
|
||
Cole T,
|
||
Baker R,
|
||
Bertoletti M,
|
||
Cocchi G,
|
||
Coze C,
|
||
De Pellegrin M,
|
||
Hussain K,
|
||
Ibrahim A,
|
||
Kilby MD,
|
||
Krajewska-Walasek M,
|
||
Kratz CP,
|
||
Ladusans EJ,
|
||
Lapunzina P,
|
||
Le Bouc Y,
|
||
Maas SM,
|
||
Macdonald F,
|
||
Õunap K,
|
||
Peruzzi L,
|
||
Rossignol S,
|
||
Russo S,
|
||
Shipster C,
|
||
Skórka A,
|
||
Tatton-Brown K,
|
||
Tenorio J,
|
||
Tortora C,
|
||
Grønskov K,
|
||
Netchine I,
|
||
Hennekam RC,
|
||
Prawitt D,
|
||
Tümer Z,
|
||
Eggermann T,
|
||
Mackay DJG,
|
||
Riccio A,
|
||
Maher ER</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2018 Apr;14(4):229-249.
|
||
Epub 2018 Jan 29
|
||
doi: 10.1038/nrendo.2017.166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29377879" target="_blank">29377879</a><a href="/pmc/articles/PMC6022848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20466091">Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller DT,
|
||
Adam MP,
|
||
Aradhya S,
|
||
Biesecker LG,
|
||
Brothman AR,
|
||
Carter NP,
|
||
Church DM,
|
||
Crolla JA,
|
||
Eichler EE,
|
||
Epstein CJ,
|
||
Faucett WA,
|
||
Feuk L,
|
||
Friedman JM,
|
||
Hamosh A,
|
||
Jackson L,
|
||
Kaminsky EB,
|
||
Kok K,
|
||
Krantz ID,
|
||
Kuhn RM,
|
||
Lee C,
|
||
Ostell JM,
|
||
Rosenberg C,
|
||
Scherer SW,
|
||
Spinner NB,
|
||
Stavropoulos DJ,
|
||
Tepperberg JH,
|
||
Thorland EC,
|
||
Vermeesch JR,
|
||
Waggoner DJ,
|
||
Watson MS,
|
||
Martin CL,
|
||
Ledbetter DH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2010 May 14;86(5):749-64.
|
||
doi: 10.1016/j.ajhg.2010.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20466091" target="_blank">20466091</a><a href="/pmc/articles/PMC2869000" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20chromosomal%20disease)%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 (3624)</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.nsgc.org/Policy-Research-and-Publications/Position-Statements/Position-Statements/Post/prenatal-cell-free-dna-screening-1" target="_blank">National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening</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/38837855">Epilepsy, EEG and chromosomal rearrangements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paprocka J,
|
||
Coppola A,
|
||
Cuccurullo C,
|
||
Stawicka E,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2024 Aug;9(4):1192-1232.
|
||
Epub 2024 Jun 4
|
||
doi: 10.1002/epi4.12951.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38837855" target="_blank">38837855</a><a href="/pmc/articles/PMC11296106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37392087">Updated consensus guidelines on the management of Phelan-McDermid syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srivastava S,
|
||
Sahin M,
|
||
Buxbaum JD,
|
||
Berry-Kravis E,
|
||
Soorya LV,
|
||
Thurm A,
|
||
Bernstein JA,
|
||
Asante-Otoo A,
|
||
Bennett WE Jr,
|
||
Betancur C,
|
||
Brickhouse TH,
|
||
Passos Bueno MR,
|
||
Chopra M,
|
||
Christensen CK,
|
||
Cully JL,
|
||
Dies K,
|
||
Friedman K,
|
||
Gummere B,
|
||
Holder JL Jr,
|
||
Jimenez-Gomez A,
|
||
Kerins CA,
|
||
Khan O,
|
||
Kohlenberg T,
|
||
Lacro RV,
|
||
Levi LA,
|
||
Levy T,
|
||
Linnehan D,
|
||
Eva L,
|
||
Moshiree B,
|
||
Neumeyer A,
|
||
Paul SM,
|
||
Phelan K,
|
||
Persico A,
|
||
Rapaport R,
|
||
Rogers C,
|
||
Saland J,
|
||
Sethuram S,
|
||
Shapiro J,
|
||
Tarr PI,
|
||
White KM,
|
||
Wickstrom J,
|
||
Williams KM,
|
||
Winrow D,
|
||
Wishart B,
|
||
Kolevzon A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Aug;191(8):2015-2044.
|
||
Epub 2023 Jul 1
|
||
doi: 10.1002/ajmg.a.63312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37392087" target="_blank">37392087</a><a href="/pmc/articles/PMC10524678" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34031868">Triploid pregnancy-Clinical implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Massalska D,
|
||
Bijok J,
|
||
Kucińska-Chahwan A,
|
||
Zimowski JG,
|
||
Ozdarska K,
|
||
Panek G,
|
||
Roszkowski T</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Oct;100(4):368-375.
|
||
Epub 2021 Jun 1
|
||
doi: 10.1111/cge.14003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34031868" target="_blank">34031868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29325624">Sex chromosome aneuploidies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skuse D,
|
||
Printzlau F,
|
||
Wolstencroft J</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;147:355-376.
|
||
doi: 10.1016/B978-0-444-63233-3.00024-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29325624" target="_blank">29325624</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29128491">Screening for fetal chromosomal and subchromosomal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harris S,
|
||
Reed D,
|
||
Vora NL</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2018 Apr;23(2):85-93.
|
||
Epub 2017 Nov 8
|
||
doi: 10.1016/j.siny.2017.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29128491" target="_blank">29128491</a><a href="/pmc/articles/PMC5891357" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20chromosomal%20disease%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 (25649)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38837855">Epilepsy, EEG and chromosomal rearrangements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paprocka J,
|
||
Coppola A,
|
||
Cuccurullo C,
|
||
Stawicka E,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2024 Aug;9(4):1192-1232.
|
||
Epub 2024 Jun 4
|
||
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<div class="portlet_content ln"><span class="medgenPMauthor">Skuse D,
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Printzlau F,
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<span class="medgenPMjournal">Handb Clin Neurol</span>
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<span class="bold">PMID: </span><a href="/pubmed/29325624" target="_blank">29325624</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20chromosomal%20disease%22%20AND%20Therapy%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 (7916)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34031868">Triploid pregnancy-Clinical implications.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Massalska D,
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Ozdarska K,
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Panek G,
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<span class="bold">PMID: </span><a href="/pubmed/34031868" target="_blank">34031868</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cheng L,
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Albers P,
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Berney DM,
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Feldman DR,
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<div class="nl"><a target="_blank" href="/pubmed/29447663">Prenatal diagnosis by chromosomal microarray analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Levy B,
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Wapner R</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/29447663" target="_blank">29447663</a><a href="/pmc/articles/PMC5856154" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27927129">Edwards' syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Izumi K,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20chromosomal%20disease%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 (10759)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38837855">Epilepsy, EEG and chromosomal rearrangements.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Paprocka J,
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<span class="bold">PMID: </span><a href="/pubmed/38837855" target="_blank">38837855</a><a href="/pmc/articles/PMC11296106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34031868">Triploid pregnancy-Clinical implications.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Massalska D,
|
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Bijok J,
|
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Kucińska-Chahwan A,
|
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Zimowski JG,
|
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Ozdarska K,
|
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Panek G,
|
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Roszkowski T</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
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2021 Oct;100(4):368-375.
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Epub 2021 Jun 1
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doi: 10.1111/cge.14003.
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<span class="bold">PMID: </span><a href="/pubmed/34031868" target="_blank">34031868</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29447663">Prenatal diagnosis by chromosomal microarray analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Levy B,
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Wapner R</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/9463853">Sample size and optimal designs for reliability studies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Walter SD,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20chromosomal%20disease%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 (16542)</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36056081">Neuromuscular exercise in children with Down Syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Grande EI,
|
||
Vargas-Pinilla OC,
|
||
Torres-Narvaez MR,
|
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Rodríguez-Malagón N</span><br />
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<span class="medgenPMjournal">Sci Rep</span>
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2022 Sep 2;12(1):14988.
|
||
doi: 10.1038/s41598-022-19086-8.
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<span class="bold">PMID: </span><a href="/pubmed/36056081" target="_blank">36056081</a><a href="/pmc/articles/PMC9440024" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35946706">Autism and Down syndrome: early identification and diagnosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Diniz NLF,
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||
Parlato-Oliveira E,
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||
Pimenta PGA,
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||
Araújo LA,
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Valadares ER</span><br />
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<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
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2022 Jun;80(6):620-630.
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doi: 10.1590/0004-282X-ANP-2021-0156.
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<span class="bold">PMID: </span><a href="/pubmed/35946706" target="_blank">35946706</a><a href="/pmc/articles/PMC9387185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35906275">Therapeutic exercise to improve motor function among children with Down Syndrome aged 0 to 3 years: a systematic literature review and meta‑analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Grande EI,
|
||
Buitrago-López A,
|
||
Torres-Narváez MR,
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Serrano-Villar Y,
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Verdugo-Paiva F,
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Ávila C</span><br />
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<span class="medgenPMjournal">Sci Rep</span>
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2022 Jul 29;12(1):13051.
|
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doi: 10.1038/s41598-022-16332-x.
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<span class="bold">PMID: </span><a href="/pubmed/35906275" target="_blank">35906275</a><a href="/pmc/articles/PMC9338268" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/30788876">Physical therapy in Down syndrome: systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz-González L,
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Lucena-Antón D,
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Salazar A,
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Martín-Valero R,
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Moral-Munoz JA</span><br />
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<span class="medgenPMjournal">J Intellect Disabil Res</span>
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2019 Aug;63(8):1041-1067.
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Epub 2019 Feb 20
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doi: 10.1111/jir.12606.
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<span class="bold">PMID: </span><a href="/pubmed/30788876" target="_blank">30788876</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28705803">Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gravholt CH,
|
||
Andersen NH,
|
||
Conway GS,
|
||
Dekkers OM,
|
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Geffner ME,
|
||
Klein KO,
|
||
Lin AE,
|
||
Mauras N,
|
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Quigley CA,
|
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Rubin K,
|
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Sandberg DE,
|
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Sas TCJ,
|
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Silberbach M,
|
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Söderström-Anttila V,
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Stochholm K,
|
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van Alfen-van derVelden JA,
|
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Woelfle J,
|
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Backeljauw PF;
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<span class="medgenPMjournal">Eur J Endocrinol</span>
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|
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<span class="bold">PMID: </span><a href="/pubmed/28705803" target="_blank">28705803</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20chromosomal%20disease%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 (492)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
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|
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|
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|
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|
||
|
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</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div>
|
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|
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<div class="portlet mgSection" id="ID_113">
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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 mgSection" id="ID_106">
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0008626%5bDISCUI%5d&filter=method%3A3%5F21" target="_blank">Chromosome breakage studies (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0008626%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C0008626%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0008626%5bDISCUI%5d&filter=method%3A3%5F23" target="_blank">FISH-interphase (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0008626%5bDISCUI%5d&filter=method%3A3%5F24" target="_blank">FISH-metaphase (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0008626%5bDISCUI%5d&filter=method%3A3%5F31" target="_blank">Fluorescence in situ hybridization (FISH) (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0008626%5bDISCUI%5d&filter=method%3A3%5F32" target="_blank">Karyotyping (45)</a></li>
|
||
<li><a href="/gtr/tests?term=C0008626%5bDISCUI%5d&test_type=Research" target="_blank">Research (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0008626%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0008626%5bDISCUI%5d&filter=method%3A2%5F20" target="_blank">Uniparental disomy study (UPD) (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0008626%5bDISCUI%5d" target="_blank">See all (82)</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=(congenital%20chromosomal%20disease)%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(%22Congenital%20chromosomal%20disease%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.nsgc.org/Policy-Research-and-Publications/Position-Statements/Position-Statements/Post/prenatal-cell-free-dna-screening-1">NSGC, 2021</a><div>National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening</div></li></ul></div>
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