β-Glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis
We describe a case of β‐glucuronidase deficiency presenting as a non‐immune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post‐abortion. In a second pregnancy, a normal β‐glucuronidase activity...
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| Veröffentlicht in: | Prenatal diagnosis 1991-06, Vol.11 (6), p.405-410 |
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| container_issue | 6 |
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| container_title | Prenatal diagnosis |
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| creator | Lissens, W. Dedobbeleer, G. Foulon, W. de Catte, L. Charels, K. Goossens, A. Liebaers, I. |
| description | We describe a case of β‐glucuronidase deficiency presenting as a non‐immune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post‐abortion. In a second pregnancy, a normal β‐glucuronidase activity was found in extracts of chorionic villi obtained at 10 weeks of gestation. The pregnancy is continuing uneventfully. We conclude that it is of great importance to verify the presence of metabolic disease whenever the major causes of hydrops fetalis have been excluded. |
| doi_str_mv | 10.1002/pd.1970110612 |
| format | Article |
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The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post‐abortion. In a second pregnancy, a normal β‐glucuronidase activity was found in extracts of chorionic villi obtained at 10 weeks of gestation. The pregnancy is continuing uneventfully. We conclude that it is of great importance to verify the presence of metabolic disease whenever the major causes of hydrops fetalis have been excluded.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.1970110612</identifier><identifier>PMID: 1833732</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; Amniocentesis ; Amniotic Fluid - enzymology ; beta-N-Acetylhexosaminidases - analysis ; Biological and medical sciences ; Female ; Fetal Blood - chemistry ; Glucuronidase - deficiency ; Gynecology. Andrology. Obstetrics ; Humans ; Hydrops fetalis ; Hydrops Fetalis - diagnosis ; Hydrops Fetalis - etiology ; Kidney - diagnostic imaging ; Management. Prenatal diagnosis ; Medical sciences ; Pregnancy ; Pregnancy. Fetus. 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Diagn</addtitle><description>We describe a case of β‐glucuronidase deficiency presenting as a non‐immune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post‐abortion. In a second pregnancy, a normal β‐glucuronidase activity was found in extracts of chorionic villi obtained at 10 weeks of gestation. The pregnancy is continuing uneventfully. We conclude that it is of great importance to verify the presence of metabolic disease whenever the major causes of hydrops fetalis have been excluded.</description><subject>Adult</subject><subject>Amniocentesis</subject><subject>Amniotic Fluid - enzymology</subject><subject>beta-N-Acetylhexosaminidases - analysis</subject><subject>Biological and medical sciences</subject><subject>Female</subject><subject>Fetal Blood - chemistry</subject><subject>Glucuronidase - deficiency</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Hydrops fetalis</subject><subject>Hydrops Fetalis - diagnosis</subject><subject>Hydrops Fetalis - etiology</subject><subject>Kidney - diagnostic imaging</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Prenatal diagnosis</subject><subject>Spleen - diagnostic imaging</subject><subject>Ultrasonography, Prenatal</subject><subject>β-Glucuronidase deficiency</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kM2O1DAQhC3EahkWjhyRfIFbdv0zjpMjGmBAWu2CBBo4WR27DYbECfZEkNfiQXgmjGbEiAunlqq-7i4VIY84u-SMiavJXfJWM85ZzcUdsuKs1RUTQt4lK1acSjaK3yP3c_5S8Ea0-pyc80ZKLcWKfPz1s9r2s53TGIODjNShDzZgtAuFTIFamIs6ejoljLCHvl-oC_ApjhkdjWOswjDMEennxaVxytRjgUJ-QM489BkfHucFef_yxbvNq-r6dvt68-y6spK3opK6q9etqDVjvu6waZiFrmiOcXS8bqXXHKywCp1tLKy9dKrrpAZUaDtEeUGeHu5Oafw2Y96bIWSLfQ8RxzkbLbhSqhYFrA6gTWPOCb2ZUhggLYYz86dKMzlzqrLwj4-H525Ad6IP3RX_ydGHbKH3CaIN-YS1jZKKqcLpA_c99Lj8_6l58_yfBMfEIe_xx99NSF9NraVWZnezNXwnNx92b4VZy99ZZZzS</recordid><startdate>199106</startdate><enddate>199106</enddate><creator>Lissens, W.</creator><creator>Dedobbeleer, G.</creator><creator>Foulon, W.</creator><creator>de Catte, L.</creator><creator>Charels, K.</creator><creator>Goossens, A.</creator><creator>Liebaers, I.</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</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>7X8</scope></search><sort><creationdate>199106</creationdate><title>β-Glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis</title><author>Lissens, W. ; Dedobbeleer, G. ; Foulon, W. ; de Catte, L. ; Charels, K. ; Goossens, A. ; Liebaers, I.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3192-37b64926700f6be880cab7b6d01ed1693f71ac2c5edc8ca4f3d5bb37ae5ecbee3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Adult</topic><topic>Amniocentesis</topic><topic>Amniotic Fluid - enzymology</topic><topic>beta-N-Acetylhexosaminidases - analysis</topic><topic>Biological and medical sciences</topic><topic>Female</topic><topic>Fetal Blood - chemistry</topic><topic>Glucuronidase - deficiency</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Hydrops fetalis</topic><topic>Hydrops Fetalis - diagnosis</topic><topic>Hydrops Fetalis - etiology</topic><topic>Kidney - diagnostic imaging</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Prenatal diagnosis</topic><topic>Spleen - diagnostic imaging</topic><topic>Ultrasonography, Prenatal</topic><topic>β-Glucuronidase deficiency</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lissens, W.</creatorcontrib><creatorcontrib>Dedobbeleer, G.</creatorcontrib><creatorcontrib>Foulon, W.</creatorcontrib><creatorcontrib>de Catte, L.</creatorcontrib><creatorcontrib>Charels, K.</creatorcontrib><creatorcontrib>Goossens, A.</creatorcontrib><creatorcontrib>Liebaers, I.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lissens, W.</au><au>Dedobbeleer, G.</au><au>Foulon, W.</au><au>de Catte, L.</au><au>Charels, K.</au><au>Goossens, A.</au><au>Liebaers, I.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>β-Glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>1991-06</date><risdate>1991</risdate><volume>11</volume><issue>6</issue><spage>405</spage><epage>410</epage><pages>405-410</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>We describe a case of β‐glucuronidase deficiency presenting as a non‐immune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post‐abortion. In a second pregnancy, a normal β‐glucuronidase activity was found in extracts of chorionic villi obtained at 10 weeks of gestation. The pregnancy is continuing uneventfully. We conclude that it is of great importance to verify the presence of metabolic disease whenever the major causes of hydrops fetalis have been excluded.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>1833732</pmid><doi>10.1002/pd.1970110612</doi><tpages>6</tpages></addata></record> |
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| ispartof | Prenatal diagnosis, 1991-06, Vol.11 (6), p.405-410 |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adult Amniocentesis Amniotic Fluid - enzymology beta-N-Acetylhexosaminidases - analysis Biological and medical sciences Female Fetal Blood - chemistry Glucuronidase - deficiency Gynecology. Andrology. Obstetrics Humans Hydrops fetalis Hydrops Fetalis - diagnosis Hydrops Fetalis - etiology Kidney - diagnostic imaging Management. Prenatal diagnosis Medical sciences Pregnancy Pregnancy. Fetus. Placenta Prenatal diagnosis Spleen - diagnostic imaging Ultrasonography, Prenatal β-Glucuronidase deficiency |
| title | β-Glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis |
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