Non-immune hydrops fetalis: A prospective study of 53 cases
Non‐immune hydrops fetalis (NIHF) is a symptom caused by a heterogeneous group of conditions. Diagnostic investigations may constitute a real challenge. This study aimed to evaluate prospectively and systematically a series of NIHF cases using a research protocol expanded for studying inborn errors...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2013-12, Vol.161A (12), p.3078-3086 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Moreno, Carolina A. Kanazawa, Thatiane Barini, Ricardo Nomura, Marcelo L. Andrade, Kléber C. Gomes, Cristiane P. Heinrich, Juliana K. Giugliani, Roberto Burin, Maira Cavalcanti, Denise P. |
| description | Non‐immune hydrops fetalis (NIHF) is a symptom caused by a heterogeneous group of conditions. Diagnostic investigations may constitute a real challenge. This study aimed to evaluate prospectively and systematically a series of NIHF cases using a research protocol expanded for studying inborn errors of metabolism (IEM) during 2 years—2010 and 2011. We also reviewed the frequency of IEM among the NIHF reported in literature. A clinical or etiopathogenic diagnosis was reached in 46 (86.8%) of the 53 studied cases. The main diagnostic groups were chromosomal anomalies (28.3%), syndromic (18.9%), isolated cardiovascular anomaly (7.5%) and congenital infection (7.5%). Metabolic causes were found in 5.7%, all lysosomal storage disorders (LSD). In seven (13.2%), no diagnosis was found in part because of incomplete evaluation. The hydrops was identified prenatally in 90.5% of cases. In 5.7% a spontaneous and complete resolution of the hydrops occurred during pregnancy. Overall mortality was 75.5%. The IEM frequency in the present study (5.7%) was higher than that usually reported. We suggest performing studies directed to IEMs if the more common causes are excluded. © 2013 Wiley Periodicals, Inc. |
| doi_str_mv | 10.1002/ajmg.a.36171 |
| format | Article |
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Diagnostic investigations may constitute a real challenge. This study aimed to evaluate prospectively and systematically a series of NIHF cases using a research protocol expanded for studying inborn errors of metabolism (IEM) during 2 years—2010 and 2011. We also reviewed the frequency of IEM among the NIHF reported in literature. A clinical or etiopathogenic diagnosis was reached in 46 (86.8%) of the 53 studied cases. The main diagnostic groups were chromosomal anomalies (28.3%), syndromic (18.9%), isolated cardiovascular anomaly (7.5%) and congenital infection (7.5%). Metabolic causes were found in 5.7%, all lysosomal storage disorders (LSD). In seven (13.2%), no diagnosis was found in part because of incomplete evaluation. The hydrops was identified prenatally in 90.5% of cases. In 5.7% a spontaneous and complete resolution of the hydrops occurred during pregnancy. Overall mortality was 75.5%. The IEM frequency in the present study (5.7%) was higher than that usually reported. We suggest performing studies directed to IEMs if the more common causes are excluded. © 2013 Wiley Periodicals, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.36171</identifier><identifier>PMID: 24039125</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Adult ; Chromosome Aberrations ; Chromosome Disorders - complications ; Chromosome Disorders - diagnosis ; Chromosome Disorders - genetics ; Congenital infection ; Diagnosis ; Edema ; etiology ; Female ; Humans ; Hydrops fetalis ; Hydrops Fetalis - diagnosis ; Hydrops Fetalis - genetics ; Hydrops Fetalis - mortality ; Hydrops Fetalis - physiopathology ; Inborn errors of metabolism ; inborn errors of metabolism, lysossomal storage disorder ; Infant, Newborn ; Lysosomal storage diseases ; Lysosomal Storage Diseases - diagnosis ; Lysosomal Storage Diseases - genetics ; Lysosomal Storage Diseases - physiopathology ; lysossomal storage disorder ; Male ; Metabolism, Inborn Errors - diagnosis ; Metabolism, Inborn Errors - genetics ; non-immune hydrops fetalis ; Pregnancy ; protocol investigation ; spontaneous resolution</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>Non‐immune hydrops fetalis (NIHF) is a symptom caused by a heterogeneous group of conditions. Diagnostic investigations may constitute a real challenge. This study aimed to evaluate prospectively and systematically a series of NIHF cases using a research protocol expanded for studying inborn errors of metabolism (IEM) during 2 years—2010 and 2011. We also reviewed the frequency of IEM among the NIHF reported in literature. A clinical or etiopathogenic diagnosis was reached in 46 (86.8%) of the 53 studied cases. The main diagnostic groups were chromosomal anomalies (28.3%), syndromic (18.9%), isolated cardiovascular anomaly (7.5%) and congenital infection (7.5%). Metabolic causes were found in 5.7%, all lysosomal storage disorders (LSD). In seven (13.2%), no diagnosis was found in part because of incomplete evaluation. The hydrops was identified prenatally in 90.5% of cases. In 5.7% a spontaneous and complete resolution of the hydrops occurred during pregnancy. Overall mortality was 75.5%. The IEM frequency in the present study (5.7%) was higher than that usually reported. We suggest performing studies directed to IEMs if the more common causes are excluded. © 2013 Wiley Periodicals, Inc.</description><subject>Adult</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Disorders - complications</subject><subject>Chromosome Disorders - diagnosis</subject><subject>Chromosome Disorders - genetics</subject><subject>Congenital infection</subject><subject>Diagnosis</subject><subject>Edema</subject><subject>etiology</subject><subject>Female</subject><subject>Humans</subject><subject>Hydrops fetalis</subject><subject>Hydrops Fetalis - diagnosis</subject><subject>Hydrops Fetalis - genetics</subject><subject>Hydrops Fetalis - mortality</subject><subject>Hydrops Fetalis - physiopathology</subject><subject>Inborn errors of metabolism</subject><subject>inborn errors of metabolism, lysossomal storage disorder</subject><subject>Infant, Newborn</subject><subject>Lysosomal storage diseases</subject><subject>Lysosomal Storage Diseases - diagnosis</subject><subject>Lysosomal Storage Diseases - genetics</subject><subject>Lysosomal Storage Diseases - physiopathology</subject><subject>lysossomal storage disorder</subject><subject>Male</subject><subject>Metabolism, Inborn Errors - diagnosis</subject><subject>Metabolism, Inborn Errors - genetics</subject><subject>non-immune hydrops fetalis</subject><subject>Pregnancy</subject><subject>protocol investigation</subject><subject>spontaneous resolution</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU1T2zAQhjUMDB8pt54Zz3DpoU61Wsmy4JRmaEqBQGfK0JtGkWVwsOPUsgv591UIyYED09Pu4dlnV3oJ-Qi0D5SyL2Za3fdNHxOQsEX2QQgW8xRxe9MzsUcOvJ9SilTIZJfsMU5RARP75HRcz-KiqrqZix4WWVPPfZS71pSFP4kG0byp_dzZtvjrIt922SKq80hgZI13_gPZyU3p3eFr7ZHbb2e_ht_jy-vR-XBwGVueIMSZUQYZt2rCJZWUgbLMZhPrgOaJkJAyKhlyFE5kuVMZQ0g5KsnSicBMUuyRTytvuOZP53yrq8JbV5Zm5urOa-CKJRwBk_9AEwirlGABPX6DTuuumYWHaAapxISDfJcKLhmWquDrkc8ryob_8o3L9bwpKtMsNFC9TEkvU9JGv6QU8KNXaTepXLaB17EEgK-Ap6J0i3dlevDjajRYe-PVWOFb97wZM82jDqdKoe_GI31BR8OvN1e_9U_8B-NiqEs</recordid><startdate>201312</startdate><enddate>201312</enddate><creator>Moreno, Carolina A.</creator><creator>Kanazawa, Thatiane</creator><creator>Barini, Ricardo</creator><creator>Nomura, Marcelo L.</creator><creator>Andrade, Kléber C.</creator><creator>Gomes, Cristiane P.</creator><creator>Heinrich, Juliana K.</creator><creator>Giugliani, Roberto</creator><creator>Burin, Maira</creator><creator>Cavalcanti, Denise P.</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>7T5</scope><scope>H94</scope></search><sort><creationdate>201312</creationdate><title>Non-immune hydrops fetalis: A prospective study of 53 cases</title><author>Moreno, Carolina A. ; Kanazawa, Thatiane ; Barini, Ricardo ; Nomura, Marcelo L. ; Andrade, Kléber C. ; Gomes, Cristiane P. ; Heinrich, Juliana K. ; Giugliani, Roberto ; Burin, Maira ; Cavalcanti, Denise P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4631-da9a324c9b47070219c2cdbce10f6571820723435e5dfe9d2318439728b53d703</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adult</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Disorders - complications</topic><topic>Chromosome Disorders - diagnosis</topic><topic>Chromosome Disorders - genetics</topic><topic>Congenital infection</topic><topic>Diagnosis</topic><topic>Edema</topic><topic>etiology</topic><topic>Female</topic><topic>Humans</topic><topic>Hydrops fetalis</topic><topic>Hydrops Fetalis - diagnosis</topic><topic>Hydrops Fetalis - genetics</topic><topic>Hydrops Fetalis - mortality</topic><topic>Hydrops Fetalis - physiopathology</topic><topic>Inborn errors of metabolism</topic><topic>inborn errors of metabolism, lysossomal storage disorder</topic><topic>Infant, Newborn</topic><topic>Lysosomal storage diseases</topic><topic>Lysosomal Storage Diseases - diagnosis</topic><topic>Lysosomal Storage Diseases - genetics</topic><topic>Lysosomal Storage Diseases - physiopathology</topic><topic>lysossomal storage disorder</topic><topic>Male</topic><topic>Metabolism, Inborn Errors - diagnosis</topic><topic>Metabolism, Inborn Errors - genetics</topic><topic>non-immune hydrops fetalis</topic><topic>Pregnancy</topic><topic>protocol investigation</topic><topic>spontaneous resolution</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Moreno, Carolina A.</creatorcontrib><creatorcontrib>Kanazawa, Thatiane</creatorcontrib><creatorcontrib>Barini, Ricardo</creatorcontrib><creatorcontrib>Nomura, Marcelo L.</creatorcontrib><creatorcontrib>Andrade, Kléber C.</creatorcontrib><creatorcontrib>Gomes, Cristiane P.</creatorcontrib><creatorcontrib>Heinrich, Juliana K.</creatorcontrib><creatorcontrib>Giugliani, Roberto</creatorcontrib><creatorcontrib>Burin, Maira</creatorcontrib><creatorcontrib>Cavalcanti, Denise P.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Moreno, Carolina A.</au><au>Kanazawa, Thatiane</au><au>Barini, Ricardo</au><au>Nomura, Marcelo L.</au><au>Andrade, Kléber C.</au><au>Gomes, Cristiane P.</au><au>Heinrich, Juliana K.</au><au>Giugliani, Roberto</au><au>Burin, Maira</au><au>Cavalcanti, Denise P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Non-immune hydrops fetalis: A prospective study of 53 cases</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2013-12</date><risdate>2013</risdate><volume>161A</volume><issue>12</issue><spage>3078</spage><epage>3086</epage><pages>3078-3086</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Non‐immune hydrops fetalis (NIHF) is a symptom caused by a heterogeneous group of conditions. Diagnostic investigations may constitute a real challenge. This study aimed to evaluate prospectively and systematically a series of NIHF cases using a research protocol expanded for studying inborn errors of metabolism (IEM) during 2 years—2010 and 2011. We also reviewed the frequency of IEM among the NIHF reported in literature. A clinical or etiopathogenic diagnosis was reached in 46 (86.8%) of the 53 studied cases. The main diagnostic groups were chromosomal anomalies (28.3%), syndromic (18.9%), isolated cardiovascular anomaly (7.5%) and congenital infection (7.5%). Metabolic causes were found in 5.7%, all lysosomal storage disorders (LSD). In seven (13.2%), no diagnosis was found in part because of incomplete evaluation. The hydrops was identified prenatally in 90.5% of cases. In 5.7% a spontaneous and complete resolution of the hydrops occurred during pregnancy. Overall mortality was 75.5%. The IEM frequency in the present study (5.7%) was higher than that usually reported. We suggest performing studies directed to IEMs if the more common causes are excluded. © 2013 Wiley Periodicals, Inc.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>24039125</pmid><doi>10.1002/ajmg.a.36171</doi><tpages>9</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adult Chromosome Aberrations Chromosome Disorders - complications Chromosome Disorders - diagnosis Chromosome Disorders - genetics Congenital infection Diagnosis Edema etiology Female Humans Hydrops fetalis Hydrops Fetalis - diagnosis Hydrops Fetalis - genetics Hydrops Fetalis - mortality Hydrops Fetalis - physiopathology Inborn errors of metabolism inborn errors of metabolism, lysossomal storage disorder Infant, Newborn Lysosomal storage diseases Lysosomal Storage Diseases - diagnosis Lysosomal Storage Diseases - genetics Lysosomal Storage Diseases - physiopathology lysossomal storage disorder Male Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - genetics non-immune hydrops fetalis Pregnancy protocol investigation spontaneous resolution |
| title | Non-immune hydrops fetalis: A prospective study of 53 cases |
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