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<meta name="keywords" content="C1285291, disease or syndrome, fetal ascites, foetal ascites, 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="Accumulation of fluid in the peritoneal cavity during the fetal period." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Fetal ascites</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226930</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)&#10;Click for more information."><span class="highlight" style="background-color:">C1285291</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Foetal ascites</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Fetal ascites (363125002)</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:0001791">HP:0001791</a></td></tr>
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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">Accumulation of fluid in the peritoneal cavity during the fetal period. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<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="TLline">Fetal ascites</span></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="TLline"><a href="/medgen/1814230" ref="tree=MeSH" title="MedGen record for Abnormal fetal morphology">Abnormal fetal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1814358" ref="tree=MeSH" title="MedGen record for Abnormal fetal gastrointestinal system morphology">Abnormal fetal gastrointestinal system morphology</a></span><ul><li><span class="matched_ds">Fetal ascites</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_137982"><div><strong>Bifunctional peroxisomal enzyme deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137982</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)&#10;Click for more information.">C0342870</a></dd><dt><span class="dotprefix"></span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (264470), caused by mutation in the ACOX1 gene (609751) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD; 300100), Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (NALD; see 601539) (Watkins et al., 1995).&#13; DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1; 233400). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/137982">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1789316"><div><strong>Hemolytic disease of fetus and newborn, RH-induced</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1789316</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)&#10;Click for more information.">C0748400</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rh-induced hemolytic disease of the fetus and newborn (HDFNRH) occurs in pregnancies in which mothers who lack the D antigen (RhD) of the Rh blood group (111690) have been exposed to the RhD-positive red cells of the fetus. The resulting maternal autoantibodies cross the placenta and destroy fetal red cells (summary by Urbaniak and Greiss, 2000).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1789316">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_335942"><div><strong>Niemann-Pick disease, type C2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335942</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)&#10;Click for more information.">C1843366</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia. Older teenagers and young adults may present predominantly with apparent early-onset dementia or psychiatric manifestations; however, careful examination usually identifies typical neurologic signs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335942">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_395189"><div><strong>Chondrodysplasia Blomstrand type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395189</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)&#10;Click for more information.">C1859148</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Blomstrand chondrodysplasia (BOCD) is a lethal autosomal recessive disorder characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation (summary by Loshkajian et al., 1997).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395189">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_465922"><div><strong>Niemann-Pick disease, type C1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>465922</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)&#10;Click for more information.">C3179455</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia. Older teenagers and young adults may present predominantly with apparent early-onset dementia or psychiatric manifestations; however, careful examination usually identifies typical neurologic signs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/465922">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1782083"><div><strong>Faundes-Banka syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782083</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)&#10;Click for more information.">C5543554</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Faundes-Banka syndrome (FABAS) is an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features (Faundes et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1782083">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794184"><div><strong>Neurodevelopmental disorder with hypotonia and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794184</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)&#10;Click for more information.">C5561974</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794184">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1823976"><div><strong>Lymphatic malformation 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823976</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)&#10;Click for more information.">C5774203</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Lymphatic malformation-12 (LMPHM12) is characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Other affected individuals experience postnatal subcutaneous lymphedema and chylothorax, with pleural and pericardial effusions and ascites (Byrne et al., 2022).&#13; For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1823976">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifunctional peroxisomal enzyme deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395189" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chondrodysplasia Blomstrand type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Faundes-Banka syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1789316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic disease of fetus and newborn, RH-induced</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphatic malformation 12</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794184" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and dysmorphic facies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_465922" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Niemann-Pick disease, type C1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Niemann-Pick disease, type C2</a></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/36349907">Fetal ascites in third trimester as novel prenatal finding in Bardet-Biedl syndrome and subsequent unaffected live birth assisted by preimplantation genetic diagnosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ma GC,
Lim ZW,
Lee MH,
Chang SP,
Chang TY,
Chen M</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2023 May;61(5):649-651.
doi: 10.1002/uog.26114.
<span class="bold">PMID: </span><a href="/pubmed/36349907" target="_blank">36349907</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33027564">Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sparks TN,
Lianoglou BR,
Adami RR,
Pluym ID,
Holliman K,
Duffy J,
Downum SL,
Patel S,
Faubel A,
Boe NM,
Field NT,
Murphy A,
Laurent LC,
Jolley J,
Uy C,
Slavotinek AM,
Devine P,
Hodoglugil U,
Van Ziffle J,
Sanders SJ,
MacKenzie TC,
Norton ME;
University of California FetalMaternal Consortium;
University of California, San Francisco Center for MaternalFetal Precision Medicine</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2020 Oct 29;383(18):1746-1756.
Epub 2020 Oct 7
doi: 10.1056/NEJMoa2023643.
<span class="bold">PMID: </span><a href="/pubmed/33027564" target="_blank">33027564</a><a href="/pmc/articles/PMC7650529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25459015">Chylothorax and chylous ascites: management and pitfalls.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lopez-Gutierrez JC,
Tovar JA</span><br />
<span class="medgenPMjournal">Semin Pediatr Surg</span>
2014 Oct;23(5):298-302.
Epub 2014 Sep 4
doi: 10.1053/j.sempedsurg.2014.09.011.
<span class="bold">PMID: </span><a href="/pubmed/25459015" target="_blank">25459015</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22fetal%20ascites%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 (15)</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/37971531">Fetal ascites in cloacal malformations-a red flag.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abdelmaksoud S,
Lobo S,
Cho A,
Upasani A,
Blackburn S,
Curry J,
Davies B,
Martin R,
De Win G,
Cherian A</span><br />
<span class="medgenPMjournal">Pediatr Surg Int</span>
2023 Nov 16;39(1):293.
doi: 10.1007/s00383-023-05564-1.
<span class="bold">PMID: </span><a href="/pubmed/37971531" target="_blank">37971531</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36053329">Persistent cloaca with fetal ascites: clinical features and perinatal management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamichi T,
Sakai T,
Yoshida M,
Takayama K,
Uga N,
Umeda S,
Maekawa S,
Usui N</span><br />
<span class="medgenPMjournal">Pediatr Surg Int</span>
2022 Nov;38(11):1577-1583.
Epub 2022 Sep 2
doi: 10.1007/s00383-022-05204-0.
<span class="bold">PMID: </span><a href="/pubmed/36053329" target="_blank">36053329</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25459015">Chylothorax and chylous ascites: management and pitfalls.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lopez-Gutierrez JC,
Tovar JA</span><br />
<span class="medgenPMjournal">Semin Pediatr Surg</span>
2014 Oct;23(5):298-302.
Epub 2014 Sep 4
doi: 10.1053/j.sempedsurg.2014.09.011.
<span class="bold">PMID: </span><a href="/pubmed/25459015" target="_blank">25459015</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23169491">Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Isidor B,
Bourdeaut F,
Lafon D,
Plessis G,
Lacaze E,
Kannengiesser C,
Rossignol S,
Pichon O,
Briand A,
Martin-Coignard D,
Piccione M,
David A,
Delattre O,
Jeanpierre C,
Sévenet N,
Le Caignec C</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2013 Jul;21(7):784-7.
Epub 2012 Nov 21
doi: 10.1038/ejhg.2012.252.
<span class="bold">PMID: </span><a href="/pubmed/23169491" target="_blank">23169491</a><a href="/pmc/articles/PMC3722950" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15711685">Intrauterine fetal transfusion.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mirghani HH,
Weerasinghe S,
Al-Awar S,
Hamud OA</span><br />
<span class="medgenPMjournal">Saudi Med J</span>
2004 Dec;25(12):2001-3.
<span class="bold">PMID: </span><a href="/pubmed/15711685" target="_blank">15711685</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fetal%20ascites%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 (68)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36266747">Fetal ascites as a possible sign of food protein-induced enterocolitis syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tamaki S,
Iwatani S,
Saito U,
Tanaka Y,
Yoshimoto S</span><br />
<span class="medgenPMjournal">Pediatr Int</span>
2022 Jan;64(1):e15302.
doi: 10.1111/ped.15302.
<span class="bold">PMID: </span><a href="/pubmed/36266747" target="_blank">36266747</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33027564">Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sparks TN,
Lianoglou BR,
Adami RR,
Pluym ID,
Holliman K,
Duffy J,
Downum SL,
Patel S,
Faubel A,
Boe NM,
Field NT,
Murphy A,
Laurent LC,
Jolley J,
Uy C,
Slavotinek AM,
Devine P,
Hodoglugil U,
Van Ziffle J,
Sanders SJ,
MacKenzie TC,
Norton ME;
University of California FetalMaternal Consortium;
University of California, San Francisco Center for MaternalFetal Precision Medicine</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2020 Oct 29;383(18):1746-1756.
Epub 2020 Oct 7
doi: 10.1056/NEJMoa2023643.
<span class="bold">PMID: </span><a href="/pubmed/33027564" target="_blank">33027564</a><a href="/pmc/articles/PMC7650529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31948252">Isolated fetal ascites.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kuniaková M,
Binder T,
Pánek M</span><br />
<span class="medgenPMjournal">Ceska Gynekol</span>
2019 Winter;84(6):435-438.
<span class="bold">PMID: </span><a href="/pubmed/31948252" target="_blank">31948252</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22705997">Overgrowth syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neylon OM,
Werther GA,
Sabin MA</span><br />
<span class="medgenPMjournal">Curr Opin Pediatr</span>
2012 Aug;24(4):505-11.
doi: 10.1097/MOP.0b013e3283558995.
<span class="bold">PMID: </span><a href="/pubmed/22705997" target="_blank">22705997</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3548676">Cytology of fetal ascites and antenatal diagnosis of meconium peritonitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shimokawa H,
Matsuyama T,
Maeda H,
Hara K,
Nakano H</span><br />
<span class="medgenPMjournal">Asia Oceania J Obstet Gynaecol</span>
1986 Dec;12(4):513-6.
doi: 10.1111/j.1447-0756.1986.tb00227.x.
<span class="bold">PMID: </span><a href="/pubmed/3548676" target="_blank">3548676</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fetal%20ascites%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 (224)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36266747">Fetal ascites as a possible sign of food protein-induced enterocolitis syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tamaki S,
Iwatani S,
Saito U,
Tanaka Y,
Yoshimoto S</span><br />
<span class="medgenPMjournal">Pediatr Int</span>
2022 Jan;64(1):e15302.
doi: 10.1111/ped.15302.
<span class="bold">PMID: </span><a href="/pubmed/36266747" target="_blank">36266747</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35410180">Atypical fetal junctional ectopic tachycardia: a case report and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Katsura D,
Tsuji S,
Tokoro S,
Hoshiyama T,
Hoshino S,
Furukawa O,
Murakami T</span><br />
<span class="medgenPMjournal">BMC Pregnancy Childbirth</span>
2022 Apr 11;22(1):311.
doi: 10.1186/s12884-022-04655-6.
<span class="bold">PMID: </span><a href="/pubmed/35410180" target="_blank">35410180</a><a href="/pmc/articles/PMC9003959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23692799">Sterile hepatic abscess due to umbilical venous catheterization.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bayhan C,
Takcı Ş,
Ciftçi TT,
Yurdakök M</span><br />
<span class="medgenPMjournal">Turk J Pediatr</span>
2012 Nov-Dec;54(6):671-3.
<span class="bold">PMID: </span><a href="/pubmed/23692799" target="_blank">23692799</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21040205">Formalin: nephrotoxic teratogen?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dorairajan G</span><br />
<span class="medgenPMjournal">J Obstet Gynaecol Res</span>
2010 Dec;36(6):1256-60.
Epub 2010 Oct 11
doi: 10.1111/j.1447-0756.2010.01309.x.
<span class="bold">PMID: </span><a href="/pubmed/21040205" target="_blank">21040205</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7845890">Feto-amniotic shunting--report of the experience of four European centres.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bernaschek G,
Deutinger J,
Hansmann M,
Bald R,
Holzgreve W,
Bollmann R</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
1994 Sep;14(9):821-33.
doi: 10.1002/pd.1970140910.
<span class="bold">PMID: </span><a href="/pubmed/7845890" target="_blank">7845890</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fetal%20ascites%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 (27)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34735407">Etiology and Outcome of Isolated Fetal Ascites: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Horgan R,
Youssef JA,
Levy AT,
Berger SI,
Dreux S,
Brizot ML,
Boutall A,
Abuhamad AZ,
Angarita AM,
Al-Kouatly HB</span><br />
<span class="medgenPMjournal">Obstet Gynecol</span>
2021 Dec 1;138(6):897-904.
doi: 10.1097/AOG.0000000000004605.
<span class="bold">PMID: </span><a href="/pubmed/34735407" target="_blank">34735407</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33027564">Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sparks TN,
Lianoglou BR,
Adami RR,
Pluym ID,
Holliman K,
Duffy J,
Downum SL,
Patel S,
Faubel A,
Boe NM,
Field NT,
Murphy A,
Laurent LC,
Jolley J,
Uy C,
Slavotinek AM,
Devine P,
Hodoglugil U,
Van Ziffle J,
Sanders SJ,
MacKenzie TC,
Norton ME;
University of California FetalMaternal Consortium;
University of California, San Francisco Center for MaternalFetal Precision Medicine</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2020 Oct 29;383(18):1746-1756.
Epub 2020 Oct 7
doi: 10.1056/NEJMoa2023643.
<span class="bold">PMID: </span><a href="/pubmed/33027564" target="_blank">33027564</a><a href="/pmc/articles/PMC7650529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22705997">Overgrowth syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neylon OM,
Werther GA,
Sabin MA</span><br />
<span class="medgenPMjournal">Curr Opin Pediatr</span>
2012 Aug;24(4):505-11.
doi: 10.1097/MOP.0b013e3283558995.
<span class="bold">PMID: </span><a href="/pubmed/22705997" target="_blank">22705997</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21040205">Formalin: nephrotoxic teratogen?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dorairajan G</span><br />
<span class="medgenPMjournal">J Obstet Gynaecol Res</span>
2010 Dec;36(6):1256-60.
Epub 2010 Oct 11
doi: 10.1111/j.1447-0756.2010.01309.x.
<span class="bold">PMID: </span><a href="/pubmed/21040205" target="_blank">21040205</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15711685">Intrauterine fetal transfusion.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mirghani HH,
Weerasinghe S,
Al-Awar S,
Hamud OA</span><br />
<span class="medgenPMjournal">Saudi Med J</span>
2004 Dec;25(12):2001-3.
<span class="bold">PMID: </span><a href="/pubmed/15711685" target="_blank">15711685</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fetal%20ascites%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 (88)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37767652">Outcome and etiology of fetal pleural effusion, fetal ascites and hydrops fetalis after fetal intervention: retrospective observational cohort from a single institution.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wu WJ,
Ma GC,
Chang TY,
Lee MH,
Lin WH,
Chen M</span><br />
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
2024 Apr;63(4):536-543.
doi: 10.1002/uog.27501.
<span class="bold">PMID: </span><a href="/pubmed/37767652" target="_blank">37767652</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36053329">Persistent cloaca with fetal ascites: clinical features and perinatal management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamichi T,
Sakai T,
Yoshida M,
Takayama K,
Uga N,
Umeda S,
Maekawa S,
Usui N</span><br />
<span class="medgenPMjournal">Pediatr Surg Int</span>
2022 Nov;38(11):1577-1583.
Epub 2022 Sep 2
doi: 10.1007/s00383-022-05204-0.
<span class="bold">PMID: </span><a href="/pubmed/36053329" target="_blank">36053329</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29950491">Loss of Dis3l2 partially phenocopies Perlman syndrome in mice and results in up-regulation of Igf2 in nephron progenitor cells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hunter RW,
Liu Y,
Manjunath H,
Acharya A,
Jones BT,
Zhang H,
Chen B,
Ramalingam H,
Hammer RE,
Xie Y,
Richardson JA,
Rakheja D,
Carroll TJ,
Mendell JT</span><br />
<span class="medgenPMjournal">Genes Dev</span>
2018 Jul 1;32(13-14):903-908.
Epub 2018 Jun 27
doi: 10.1101/gad.315804.118.
<span class="bold">PMID: </span><a href="/pubmed/29950491" target="_blank">29950491</a><a href="/pmc/articles/PMC6075040" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25459015">Chylothorax and chylous ascites: management and pitfalls.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lopez-Gutierrez JC,
Tovar JA</span><br />
<span class="medgenPMjournal">Semin Pediatr Surg</span>
2014 Oct;23(5):298-302.
Epub 2014 Sep 4
doi: 10.1053/j.sempedsurg.2014.09.011.
<span class="bold">PMID: </span><a href="/pubmed/25459015" target="_blank">25459015</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2222632">Isolated fetal ascites: prenatal diagnosis and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Winn HN,
Stiller R,
Grannum PA,
Crane JC,
Coster B,
Romero R</span><br />
<span class="medgenPMjournal">Am J Perinatol</span>
1990 Oct;7(4):370-3.
doi: 10.1055/s-2007-999526.
<span class="bold">PMID: </span><a href="/pubmed/2222632" target="_blank">2222632</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fetal%20ascites%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 (53)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/34735407">Etiology and Outcome of Isolated Fetal Ascites: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Horgan R,
Youssef JA,
Levy AT,
Berger SI,
Dreux S,
Brizot ML,
Boutall A,
Abuhamad AZ,
Angarita AM,
Al-Kouatly HB</span><br />
<span class="medgenPMjournal">Obstet Gynecol</span>
2021 Dec 1;138(6):897-904.
doi: 10.1097/AOG.0000000000004605.
<span class="bold">PMID: </span><a href="/pubmed/34735407" target="_blank">34735407</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fetal%20ascites%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 (1)</a></div></div>
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