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<meta name="keywords" content="C0027794, abnormality of neural tube closure, congenital abnormality, defect, neural tube, defects, neural tube, developmental defects, neural tube, developmental neural tube defects, neural tube defect, neural tube defects, neural tube developmental defects, ntd, ntd - neural tube defect, spinal dysraphism, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine." /><meta name="robots" content="index,nofollow,noarchive" />
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||
<!--
|
||
UID=18009
|
||
ConceptID=C0027794
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neural tube defect<span class="h1sub">(NTD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18009</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."><span class="highlight" style="background-color:">C0027794</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Neural tube defects; NTD</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Neural tube defect (253098009); NTD - Neural tube defect (253098009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/81839">VANGL1</a>, <a target="_blank" href="/gene/80199">FUZ</a>, <a target="_blank" href="/gene/57216">VANGL2</a>, <a target="_blank" href="/gene/6862">TBXT</a>, <a target="_blank" href="/gene/6347">CCL2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0045005">HP:0045005</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018075" target="_blank">MONDO:0018075</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=3388">ORPHA3388</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">
|
||
<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 neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0027794[DISCUI]&test_type=Clinical" ref="ncbi_uid=18009">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0027794[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=18009">R</a></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=18009" ref="ncbi_uid=18009">V</a></span></span><span class="TLline">Neural tube defect</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0002902[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=8068">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=8068" target="_blank" href="/omim/206500">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=8068" ref="ncbi_uid=8068">V</a></span></span><span class="TLline"><a href="/medgen/8068" ref="tree=GTR&ncbi_uid=8068&link_uid=8068" title="View MedGen record for 'Anencephaly'">Anencephaly</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/56290" ref="tree=GTR&ncbi_uid=56290&link_uid=56290" title="View MedGen record for 'Craniorachischisis'">Craniorachischisis</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 Ocolor" title="OMIM"><a ref="ncbi_uid=856010" target="_blank" href="/omim/182940">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=856010" ref="ncbi_uid=856010">V</a></span></span><span class="TLline"><a href="/medgen/856010" ref="tree=GTR&ncbi_uid=856010&link_uid=856010" title="View MedGen record for 'Neural tube defects, susceptibility to'">Neural tube defects, susceptibility to</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 Ocolor" title="OMIM"><a ref="ncbi_uid=38283" target="_blank" href="/omim/182940">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/38283" ref="tree=GTR&ncbi_uid=38283&link_uid=38283" title="View MedGen record for 'Spina bifida'">Spina bifida</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=C0080174[DISCUI]&test_type=Clinical" ref="ncbi_uid=36380">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=36380" ref="ncbi_uid=36380">V</a></span></span><span class="TLline"><a href="/medgen/36380" ref="tree=GTR&ncbi_uid=36380&link_uid=36380" title="View MedGen record for 'Spina bifida occulta'">Spina bifida occulta</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1620065" ref="tree=MeSH" title="MedGen record for Abnormal neural tube morphology">Abnormal neural tube morphology</a></span><ul><li><span class="matched_ds">Neural tube defect</span><ul><li><span class="TLline"><a href="/medgen/8068" ref="tree=MeSH" title="MedGen record for Anencephaly">Anencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/6937" ref="tree=MeSH" title="MedGen record for Hydranencephaly">Hydranencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4934" ref="tree=MeSH" title="MedGen record for Cephalocele">Cephalocele</a></span><ul><li><span class="TLline"><a href="/medgen/332248" ref="tree=MeSH" title="MedGen record for Atretic occipital cephalocele">Atretic occipital cephalocele</a></span></li><li><span class="TLline"><a href="/medgen/1830107" ref="tree=MeSH" title="MedGen record for Isolated encephalocele">Isolated encephalocele</a></span><ul><li><span class="TLline"><a href="/medgen/868771" ref="tree=MeSH" title="MedGen record for Basal encephalocele">Basal encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/98460" ref="tree=MeSH" title="MedGen record for Frontal encephalocele">Frontal encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/507680" ref="tree=MeSH" title="MedGen record for Nasal encephalocele">Nasal encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/4935" ref="tree=MeSH" title="MedGen record for Occipital encephalocele">Occipital encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/488903" ref="tree=MeSH" title="MedGen record for Parietal encephalocele">Parietal encephalocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82743" ref="tree=MeSH" title="MedGen record for Meningoencephalocele">Meningoencephalocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2065" ref="tree=MeSH" title="MedGen record for Chiari malformation">Chiari malformation</a></span><ul><li><span class="TLline"><a href="/medgen/148202" ref="tree=MeSH" title="MedGen record for Chiari malformation type III">Chiari malformation type III</a></span></li><li><span class="TLline"><a href="/medgen/148203" ref="tree=MeSH" title="MedGen record for Chiari malformation type IV">Chiari malformation type IV</a></span></li><li><span class="TLline"><a href="/medgen/196689" ref="tree=MeSH" title="MedGen record for Chiari type I malformation">Chiari type I malformation</a></span></li><li><span class="TLline"><a href="/medgen/108222" ref="tree=MeSH" title="MedGen record for Chiari type II malformation">Chiari type II malformation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814386" ref="tree=MeSH" title="MedGen record for Closed neural tube defect">Closed neural tube defect</a></span><ul><li><span class="TLline"><a href="/medgen/1815047" ref="tree=MeSH" title="MedGen record for Dermal sinus tract">Dermal sinus tract</a></span></li><li><span class="TLline"><a href="/medgen/332109" ref="tree=MeSH" title="MedGen record for Lipomyelomeningocele">Lipomyelomeningocele</a></span></li><li><span class="TLline"><a href="/medgen/44356" ref="tree=MeSH" title="MedGen record for Meningocele">Meningocele</a></span><ul><li><span class="TLline"><a href="/medgen/895696" ref="tree=MeSH" title="MedGen record for Frontoethmoidal meningocele">Frontoethmoidal meningocele</a></span></li><li><span class="TLline"><a href="/medgen/1693481" ref="tree=MeSH" title="MedGen record for Lateral spinal meningocele">Lateral spinal meningocele</a></span></li><li><span class="TLline"><a href="/medgen/608947" ref="tree=MeSH" title="MedGen record for Lipomeningocele">Lipomeningocele</a></span></li><li><span class="TLline"><a href="/medgen/336389" ref="tree=MeSH" title="MedGen record for Occipital meningocele">Occipital meningocele</a></span></li><li><span class="TLline"><a href="/medgen/907409" ref="tree=MeSH" title="MedGen record for Parietal meningocele">Parietal meningocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11550" ref="tree=MeSH" title="MedGen record for Myelopathy">Myelopathy</a></span><ul><li><span class="TLline"><a href="/medgen/274" ref="tree=MeSH" title="MedGen record for Amyotrophic lateral sclerosis">Amyotrophic lateral sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/57691" ref="tree=MeSH" title="MedGen record for Cervical myelopathy">Cervical myelopathy</a></span></li><li><span class="TLline"><a href="/medgen/82848" ref="tree=MeSH" title="MedGen record for Epidural abscess">Epidural abscess</a></span></li><li><span class="TLline"><a href="/medgen/450992" ref="tree=MeSH" title="MedGen record for Hydromyelia">Hydromyelia</a></span></li><li><span class="TLline"><a href="/medgen/473565" ref="tree=MeSH" title="MedGen record for Infarction of spinal cord">Infarction of spinal cord</a></span></li><li><span class="TLline"><a href="/medgen/10230" ref="tree=MeSH" title="MedGen record for Myelitis">Myelitis</a></span></li><li><span class="TLline"><a href="/medgen/1639659" ref="tree=MeSH" title="MedGen record for Myelocystocele">Myelocystocele</a></span></li><li><span class="TLline"><a href="/medgen/473762" ref="tree=MeSH" title="MedGen record for Pneumorrhachis">Pneumorrhachis</a></span></li><li><span class="TLline"><a href="/medgen/11549" ref="tree=MeSH" title="MedGen record for Spinal cord compression">Spinal cord compression</a></span></li><li><span class="TLline"><a href="/medgen/277660" ref="tree=MeSH" title="MedGen record for Spinal Cord Hamartoma">Spinal Cord Hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/11551" ref="tree=MeSH" title="MedGen record for Spinal cord tumor">Spinal cord tumor</a></span></li><li><span class="TLline"><a href="/medgen/156008" ref="tree=MeSH" title="MedGen record for Spinal Cord Vascular Diseases">Spinal Cord Vascular Diseases</a></span></li><li><span class="TLline"><a href="/medgen/7755" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy">Spinal muscular atrophy</a></span></li><li><span class="TLline"><a href="/medgen/11554" ref="tree=MeSH" title="MedGen record for spinocerebellar disease">spinocerebellar disease</a></span></li><li><span class="TLline"><a href="/medgen/39017" ref="tree=MeSH" title="MedGen record for Stiff-man syndrome">Stiff-man syndrome</a></span></li><li><span class="TLline"><a href="/medgen/113144" ref="tree=MeSH" title="MedGen record for Subacute combined degeneration of spinal cord">Subacute combined degeneration of spinal cord</a></span></li><li><span class="TLline"><a href="/medgen/21449" ref="tree=MeSH" title="MedGen record for Syringomyelia">Syringomyelia</a></span></li><li><span class="TLline"><a href="/medgen/21065" ref="tree=MeSH" title="MedGen record for Tabes dorsalis">Tabes dorsalis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/488957" ref="tree=MeSH" title="MedGen record for Congenital meningocele">Congenital meningocele</a></span><ul><li><span class="TLline"><a href="/medgen/507591" ref="tree=MeSH" title="MedGen record for Congenital cerebral meningocele">Congenital cerebral meningocele</a></span></li><li><span class="TLline"><a href="/medgen/507597" ref="tree=MeSH" title="MedGen record for Congenital spinal meningocele">Congenital spinal meningocele</a></span><ul><li><span class="TLline"><a href="/medgen/768674" ref="tree=MeSH" title="MedGen record for Cervical Meningocele">Cervical Meningocele</a></span></li><li><span class="TLline"><a href="/medgen/768675" ref="tree=MeSH" title="MedGen record for Lumbar Meningocele">Lumbar Meningocele</a></span></li><li><span class="TLline"><a href="/medgen/101069" ref="tree=MeSH" title="MedGen record for Sacral meningocele">Sacral meningocele</a></span></li><li><span class="TLline"><a href="/medgen/768676" ref="tree=MeSH" title="MedGen record for Thoracic Meningocele">Thoracic Meningocele</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/56290" ref="tree=MeSH" title="MedGen record for Craniorachischisis">Craniorachischisis</a></span></li><li><span class="TLline"><a href="/medgen/672791" ref="tree=MeSH" title="MedGen record for Holorachischisis">Holorachischisis</a></span></li><li><span class="TLline"><a href="/medgen/57756" ref="tree=MeSH" title="MedGen record for Iniencephaly">Iniencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/608901" ref="tree=MeSH" title="MedGen record for Closed iniencephaly">Closed iniencephaly</a></span></li><li><span class="TLline"><a href="/medgen/608900" ref="tree=MeSH" title="MedGen record for Open iniencephaly">Open iniencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/903577" ref="tree=MeSH" title="MedGen record for Meningohydroencephalocele">Meningohydroencephalocele</a></span></li><li><span class="TLline"><a href="/medgen/7538" ref="tree=MeSH" title="MedGen record for Myelomeningocele">Myelomeningocele</a></span><ul><li><span class="TLline"><a href="/medgen/760704" ref="tree=MeSH" title="MedGen record for Cervical meningomyelocele">Cervical meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/798909" ref="tree=MeSH" title="MedGen record for Cervical spina bifida cystica">Cervical spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/797823" ref="tree=MeSH" title="MedGen record for Cervicothoracic spina bifida cystica">Cervicothoracic spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/760702" ref="tree=MeSH" title="MedGen record for Lumbar meningomyelocele">Lumbar meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/799730" ref="tree=MeSH" title="MedGen record for Lumbosacral spina bifida cystica">Lumbosacral spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/760703" ref="tree=MeSH" title="MedGen record for Thoracic meningomyelocele">Thoracic meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/798744" ref="tree=MeSH" title="MedGen record for Thoracolumbosacral spina bifida cystica">Thoracolumbosacral spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/798852" ref="tree=MeSH" title="MedGen record for Total spina bifida cystica">Total spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/799069" ref="tree=MeSH" title="MedGen record for Upper thoracic spina bifida cystica">Upper thoracic spina bifida cystica</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/856010" ref="tree=MeSH" title="MedGen record for Neural tube defects, susceptibility to">Neural tube defects, susceptibility to</a></span></li><li><span class="TLline"><a href="/medgen/1814385" ref="tree=MeSH" title="MedGen record for Open neural tube defect">Open neural tube defect</a></span><ul><li><span class="TLline"><a href="/medgen/1646412" ref="tree=MeSH" title="MedGen record for Encephalocele">Encephalocele</a></span><ul><li><span class="TLline"><a href="/medgen/1853830" ref="tree=MeSH" title="MedGen record for Anterior encephalocele">Anterior encephalocele</a></span></li><li><span class="TLline"><a href="/medgen/358250" ref="tree=MeSH" title="MedGen record for Cranium bifidum occultum">Cranium bifidum occultum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120577" ref="tree=MeSH" title="MedGen record for Exencephaly">Exencephaly</a></span></li><li><span class="TLline"><a href="/medgen/539965" ref="tree=MeSH" title="MedGen record for Myeloschisis">Myeloschisis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/107540" ref="tree=MeSH" title="MedGen record for Pentalogy of Cantrell">Pentalogy of Cantrell</a></span></li><li><span class="TLline"><a href="/medgen/38283" ref="tree=MeSH" title="MedGen record for Spina bifida">Spina bifida</a></span><ul><li><span class="TLline"><a href="/medgen/539959" ref="tree=MeSH" title="MedGen record for Cervical spina bifida">Cervical spina bifida</a></span></li><li><span class="TLline"><a href="/medgen/21277" ref="tree=MeSH" title="MedGen record for Spina bifida cystica">Spina bifida cystica</a></span><ul><li><span class="TLline"><a href="/medgen/447467" ref="tree=MeSH" title="MedGen record for Arnold-Chiari malformation type II">Arnold-Chiari malformation type II</a></span></li><li><span class="TLline"><a href="/medgen/1806905" ref="tree=MeSH" title="MedGen record for Posterior meningocele">Posterior meningocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/36380" ref="tree=MeSH" title="MedGen record for Spina bifida occulta">Spina bifida occulta</a></span><ul><li><span class="TLline"><a href="/medgen/870848" ref="tree=MeSH" title="MedGen record for Spina bifida occulta at L5">Spina bifida occulta at L5</a></span></li><li><span class="TLline"><a href="/medgen/870844" ref="tree=MeSH" title="MedGen record for Spina bifida occulta at S1">Spina bifida occulta at S1</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/87487" ref="tree=MeSH" title="MedGen record for Spinal dysraphism">Spinal dysraphism</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_322166"><div><strong>Anophthalmia plus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322166</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.">C1833339</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A very rare multiple congenital anomaly syndrome with characteristics of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/322166">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_767295"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767295</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.">C3554381</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Vuillaumier-Barrot et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/767295">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1632198"><div><strong>Blepharocheilodontic syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632198</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.">C4551988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1632198">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anophthalmia plus syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharocheilodontic syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10</a></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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/35691683">Guideline No. 427: Folic Acid and Multivitamin Supplementation for Prevention of Folic Acid-Sensitive Congenital Anomalies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wilson RD,
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O'Connor DL</span><br />
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<span class="medgenPMjournal">J Obstet Gynaecol Can</span>
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2022 Jun;44(6):707-719.e1.
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doi: 10.1016/j.jogc.2022.04.004.
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<span class="bold">PMID: </span><a href="/pubmed/35691683" target="_blank">35691683</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33212246">Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Douglas Wilson R,
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Van Mieghem T,
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Langlois S,
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Church P</span><br />
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<span class="medgenPMjournal">J Obstet Gynaecol Can</span>
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2021 Jan;43(1):124-139.e8.
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Epub 2020 Nov 17
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doi: 10.1016/j.jogc.2020.11.003.
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<span class="bold">PMID: </span><a href="/pubmed/33212246" target="_blank">33212246</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32736756">Diagnosis and management of congenital neurologic disease during pregnancy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mandel AM</span><br />
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<span class="medgenPMjournal">Handb Clin Neurol</span>
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2020;171:291-311.
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doi: 10.1016/B978-0-444-64239-4.00015-1.
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<span class="bold">PMID: </span><a href="/pubmed/32736756" target="_blank">32736756</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22neural%20tube%20defect%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 (101)</a></div></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/34518383">Arnold-Chiari Malformation: Core Concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fons K,
|
||
Jnah AJ</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2021 Aug 1;40(5):313-320.
|
||
doi: 10.1891/11-T-704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34518383" target="_blank">34518383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33755975">From Myo-inositol to D-chiro-inositol molecular pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiani AK,
|
||
Paolacci S,
|
||
Calogero AE,
|
||
Cannarella R,
|
||
Di Renzo GC,
|
||
Gerli S,
|
||
Della Morte C,
|
||
Busetto GM,
|
||
De Berardinis E,
|
||
Del Giudice F,
|
||
Stuppia L,
|
||
Facchinetti F,
|
||
Dinicola S,
|
||
Bertelli M</span><br />
|
||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2021 Mar;25(5):2390-2402.
|
||
doi: 10.26355/eurrev_202103_25279.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33755975" target="_blank">33755975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32868164">Folic acid versus 5- methyl tetrahydrofolate supplementation in pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrazzi E,
|
||
Tiso G,
|
||
Di Martino D</span><br />
|
||
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
|
||
2020 Oct;253:312-319.
|
||
Epub 2020 Jun 13
|
||
doi: 10.1016/j.ejogrb.2020.06.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32868164" target="_blank">32868164</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32423763">Closing in on Mechanisms of Open Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee S,
|
||
Gleeson JG</span><br />
|
||
<span class="medgenPMjournal">Trends Neurosci</span>
|
||
2020 Jul;43(7):519-532.
|
||
Epub 2020 May 15
|
||
doi: 10.1016/j.tins.2020.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32423763" target="_blank">32423763</a><a href="/pmc/articles/PMC7321880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29777755">Folic acid and primary prevention of neural tube defects: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Gool JD,
|
||
Hirche H,
|
||
Lax H,
|
||
De Schaepdrijver L</span><br />
|
||
<span class="medgenPMjournal">Reprod Toxicol</span>
|
||
2018 Sep;80:73-84.
|
||
Epub 2018 May 16
|
||
doi: 10.1016/j.reprotox.2018.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29777755" target="_blank">29777755</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neural%20tube%20defect%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 (903)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37771507">Are epigenetic mechanisms and nutrition effective in male and female infertility?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erdoğan K,
|
||
Sanlier NT,
|
||
Sanlier N</span><br />
|
||
<span class="medgenPMjournal">J Nutr Sci</span>
|
||
2023;12:e103.
|
||
Epub 2023 Sep 26
|
||
doi: 10.1017/jns.2023.62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37771507" target="_blank">37771507</a><a href="/pmc/articles/PMC10523291" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34518383">Arnold-Chiari Malformation: Core Concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fons K,
|
||
Jnah AJ</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2021 Aug 1;40(5):313-320.
|
||
doi: 10.1891/11-T-704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34518383" target="_blank">34518383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31656152">Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Markovic I,
|
||
Bosnjakovic P,
|
||
Milenkovic Z</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2020;16(3):200-205.
|
||
doi: 10.2174/1573396315666191018161535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31656152" target="_blank">31656152</a><a href="/pmc/articles/PMC8193807" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29761634">Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez AF,
|
||
Kruszka PS,
|
||
Muenke M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2018 Jun;178(2):246-257.
|
||
Epub 2018 May 15
|
||
doi: 10.1002/ajmg.c.31616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29761634" target="_blank">29761634</a><a href="/pmc/articles/PMC6125181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26272218">Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chitayat D,
|
||
Matsui D,
|
||
Amitai Y,
|
||
Kennedy D,
|
||
Vohra S,
|
||
Rieder M,
|
||
Koren G</span><br />
|
||
<span class="medgenPMjournal">J Clin Pharmacol</span>
|
||
2016 Feb;56(2):170-5.
|
||
Epub 2015 Nov 5
|
||
doi: 10.1002/jcph.616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26272218" target="_blank">26272218</a><a href="/pmc/articles/PMC4738404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neural%20tube%20defect%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 (549)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37526714">Folic Acid Supplementation to Prevent Neural Tube Defects: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viswanathan M,
|
||
Urrutia RP,
|
||
Hudson KN,
|
||
Middleton JC,
|
||
Kahwati LC</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Aug 1;330(5):460-466.
|
||
doi: 10.1001/jama.2023.9864.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37526714" target="_blank">37526714</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36328602">Fetal Repair of Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SY,
|
||
Papanna R,
|
||
Farmer D,
|
||
Tsao K</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2022 Dec;49(4):835-848.
|
||
Epub 2022 Oct 9
|
||
doi: 10.1016/j.clp.2022.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36328602" target="_blank">36328602</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29777755">Folic acid and primary prevention of neural tube defects: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Gool JD,
|
||
Hirche H,
|
||
Lax H,
|
||
De Schaepdrijver L</span><br />
|
||
<span class="medgenPMjournal">Reprod Toxicol</span>
|
||
2018 Sep;80:73-84.
|
||
Epub 2018 May 16
|
||
doi: 10.1016/j.reprotox.2018.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29777755" target="_blank">29777755</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26272218">Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chitayat D,
|
||
Matsui D,
|
||
Amitai Y,
|
||
Kennedy D,
|
||
Vohra S,
|
||
Rieder M,
|
||
Koren G</span><br />
|
||
<span class="medgenPMjournal">J Clin Pharmacol</span>
|
||
2016 Feb;56(2):170-5.
|
||
Epub 2015 Nov 5
|
||
doi: 10.1002/jcph.616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26272218" target="_blank">26272218</a><a href="/pmc/articles/PMC4738404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24373566">Diagnosis of spina bifida on ultrasound: always termination?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trudell AS,
|
||
Odibo AO</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2014 Apr;28(3):367-77.
|
||
Epub 2013 Dec 3
|
||
doi: 10.1016/j.bpobgyn.2013.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24373566" target="_blank">24373566</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neural%20tube%20defect%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 (427)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39642685">Sacral Agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez-Romero M,
|
||
Tlaxcala-Castillo L,
|
||
Pichardo-Rojas PS,
|
||
Valencia-Melo MA,
|
||
Paz-López ÁA,
|
||
Sánchez-Sagastegui F,
|
||
Wegman-Ostrosky T;
|
||
International Sacral Agenesis/Caudal Regression Association</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2025 Feb;163:27-34.
|
||
Epub 2024 Nov 5
|
||
doi: 10.1016/j.pediatrneurol.2024.10.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39642685" target="_blank">39642685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34089698">Experience of 300 cases of prenatal fetoscopic open spina bifida repair: report of the International Fetoscopic Neural Tube Defect Repair Consortium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanz Cortes M,
|
||
Chmait RH,
|
||
Lapa DA,
|
||
Belfort MA,
|
||
Carreras E,
|
||
Miller JL,
|
||
Brawura Biskupski Samaha R,
|
||
Sepulveda Gonzalez G,
|
||
Gielchinsky Y,
|
||
Yamamoto M,
|
||
Persico N,
|
||
Santorum M,
|
||
Otaño L,
|
||
Nicolaou E,
|
||
Yinon Y,
|
||
Faig-Leite F,
|
||
Brandt R,
|
||
Whitehead W,
|
||
Maiz N,
|
||
Baschat A,
|
||
Kosinski P,
|
||
Nieto-Sanjuanero A,
|
||
Chu J,
|
||
Kershenovich A,
|
||
Nicolaides KH</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2021 Dec;225(6):678.e1-678.e11.
|
||
Epub 2021 Jun 3
|
||
doi: 10.1016/j.ajog.2021.05.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34089698" target="_blank">34089698</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31656152">Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Markovic I,
|
||
Bosnjakovic P,
|
||
Milenkovic Z</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2020;16(3):200-205.
|
||
doi: 10.2174/1573396315666191018161535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31656152" target="_blank">31656152</a><a href="/pmc/articles/PMC8193807" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29031539">Fetal surgery for myelomeningocele: After the Management of Myelomeningocele Study (MOMS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moldenhauer JS,
|
||
Adzick NS</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2017 Dec;22(6):360-366.
|
||
Epub 2017 Oct 12
|
||
doi: 10.1016/j.siny.2017.08.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29031539" target="_blank">29031539</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26272218">Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chitayat D,
|
||
Matsui D,
|
||
Amitai Y,
|
||
Kennedy D,
|
||
Vohra S,
|
||
Rieder M,
|
||
Koren G</span><br />
|
||
<span class="medgenPMjournal">J Clin Pharmacol</span>
|
||
2016 Feb;56(2):170-5.
|
||
Epub 2015 Nov 5
|
||
doi: 10.1002/jcph.616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26272218" target="_blank">26272218</a><a href="/pmc/articles/PMC4738404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neural%20tube%20defect%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 (255)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37526714">Folic Acid Supplementation to Prevent Neural Tube Defects: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viswanathan M,
|
||
Urrutia RP,
|
||
Hudson KN,
|
||
Middleton JC,
|
||
Kahwati LC</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Aug 1;330(5):460-466.
|
||
doi: 10.1001/jama.2023.9864.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37526714" target="_blank">37526714</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34089698">Experience of 300 cases of prenatal fetoscopic open spina bifida repair: report of the International Fetoscopic Neural Tube Defect Repair Consortium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanz Cortes M,
|
||
Chmait RH,
|
||
Lapa DA,
|
||
Belfort MA,
|
||
Carreras E,
|
||
Miller JL,
|
||
Brawura Biskupski Samaha R,
|
||
Sepulveda Gonzalez G,
|
||
Gielchinsky Y,
|
||
Yamamoto M,
|
||
Persico N,
|
||
Santorum M,
|
||
Otaño L,
|
||
Nicolaou E,
|
||
Yinon Y,
|
||
Faig-Leite F,
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||
Brandt R,
|
||
Whitehead W,
|
||
Maiz N,
|
||
Baschat A,
|
||
Kosinski P,
|
||
Nieto-Sanjuanero A,
|
||
Chu J,
|
||
Kershenovich A,
|
||
Nicolaides KH</span><br />
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||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2021 Dec;225(6):678.e1-678.e11.
|
||
Epub 2021 Jun 3
|
||
doi: 10.1016/j.ajog.2021.05.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34089698" target="_blank">34089698</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33755975">From Myo-inositol to D-chiro-inositol molecular pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiani AK,
|
||
Paolacci S,
|
||
Calogero AE,
|
||
Cannarella R,
|
||
Di Renzo GC,
|
||
Gerli S,
|
||
Della Morte C,
|
||
Busetto GM,
|
||
De Berardinis E,
|
||
Del Giudice F,
|
||
Stuppia L,
|
||
Facchinetti F,
|
||
Dinicola S,
|
||
Bertelli M</span><br />
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||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2021 Mar;25(5):2390-2402.
|
||
doi: 10.26355/eurrev_202103_25279.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33755975" target="_blank">33755975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32423763">Closing in on Mechanisms of Open Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee S,
|
||
Gleeson JG</span><br />
|
||
<span class="medgenPMjournal">Trends Neurosci</span>
|
||
2020 Jul;43(7):519-532.
|
||
Epub 2020 May 15
|
||
doi: 10.1016/j.tins.2020.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32423763" target="_blank">32423763</a><a href="/pmc/articles/PMC7321880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26272218">Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chitayat D,
|
||
Matsui D,
|
||
Amitai Y,
|
||
Kennedy D,
|
||
Vohra S,
|
||
Rieder M,
|
||
Koren G</span><br />
|
||
<span class="medgenPMjournal">J Clin Pharmacol</span>
|
||
2016 Feb;56(2):170-5.
|
||
Epub 2015 Nov 5
|
||
doi: 10.1002/jcph.616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26272218" target="_blank">26272218</a><a href="/pmc/articles/PMC4738404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neural%20tube%20defect%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 (350)</a></div></div>
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|
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|
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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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39365302">Burden of neural tube defects in India: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinha A,
|
||
P P,
|
||
Chakraborty H,
|
||
Barnwal RK,
|
||
Sinha R</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2024 Dec;40(12):4123-4135.
|
||
Epub 2024 Oct 4
|
||
doi: 10.1007/s00381-024-06627-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39365302" target="_blank">39365302</a><a href="/pmc/articles/PMC11579090" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37526714">Folic Acid Supplementation to Prevent Neural Tube Defects: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viswanathan M,
|
||
Urrutia RP,
|
||
Hudson KN,
|
||
Middleton JC,
|
||
Kahwati LC</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Aug 1;330(5):460-466.
|
||
doi: 10.1001/jama.2023.9864.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37526714" target="_blank">37526714</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34219595">Risk of neural tube defects according to maternal body mass index: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vena F,
|
||
D'Ambrosio V,
|
||
Paladini V,
|
||
Saluzzi E,
|
||
Di Mascio D,
|
||
Boccherini C,
|
||
Spiniello L,
|
||
Mondo A,
|
||
Pizzuti A,
|
||
Giancotti A</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2022 Dec;35(25):7296-7305.
|
||
Epub 2021 Jul 5
|
||
doi: 10.1080/14767058.2021.1946789.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34219595" target="_blank">34219595</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34126936">Magnitude and determinants of neural tube defect in Africa: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atlaw D,
|
||
Tekalegn Y,
|
||
Sahiledengle B,
|
||
Seyoum K,
|
||
Solomon D,
|
||
Gezahegn H,
|
||
Tariku Z,
|
||
Tekle Y,
|
||
Chattu VK</span><br />
|
||
<span class="medgenPMjournal">BMC Pregnancy Childbirth</span>
|
||
2021 Jun 14;21(1):426.
|
||
doi: 10.1186/s12884-021-03848-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34126936" target="_blank">34126936</a><a href="/pmc/articles/PMC8204447" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21918421">Safety of efavirenz in the first trimester of pregnancy: an updated systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ford N,
|
||
Calmy A,
|
||
Mofenson L</span><br />
|
||
<span class="medgenPMjournal">AIDS</span>
|
||
2011 Nov 28;25(18):2301-4.
|
||
doi: 10.1097/QAD.0b013e32834cdb71.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21918421" target="_blank">21918421</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neural%20tube%20defect%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 (28)</a></div></div>
|
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||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0027794%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=3388" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Neural%20tube%20defect" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(%22neural%20tube%20defect%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(%22Neural%20tube%20defect%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></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/neural_tube_defects" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Neural%20tube%20defect" target="_blank">MedlinePlus</a></li><li><a href="#" class="jig-ncbipopper results_settings" role="button" aria-expanded="false" aria-haspopup="true" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false, addCloseButton : false, groupName: 'entrez_pg',destSelector : '#ghrPopup'">MedlinePlusGenetics (GHR)<span class="tgt_dark"></span></a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18796/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul><div id="ghrPopup" aria-live="assertive" aria-hidden="true" style="display: none;" class="portlet_popup tabPopper ui-helper-reset ui-ncbipopper-wrapper ui-ncbipopper-basic"><ul class="column_list"><li><a target="_blank" href="https://medlineplus.gov/genetics/condition/anencephaly">Anencephaly</a></li><li><a target="_blank" href="https://medlineplus.gov/genetics/condition/spina-bifida">Spina bifida</a></li></ul></div></div>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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