Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)
In a 20‐year‐old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a metabolic disorder. At 29 weeks, an amniotic fluid...
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| Veröffentlicht in: | Prenatal diagnosis 1995-09, Vol.15 (9), p.864-867 |
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| container_title | Prenatal diagnosis |
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| creator | Poulain, P. Odent, S. Maire, I. Milon, J. Proudhon, J. F. Jouan, H. Le Marec, B. |
| description | In a 20‐year‐old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a metabolic disorder. At 29 weeks, an amniotic fluid biochemical study revealed the presence of an abnormal band of free sialic acid, leading to a diagnosis of a congenital form of sialic acid storage disease. Termination of pregnancy was performed at 30 weeks. Measurement of free sialic acid in cultured fetal skin fibroblasts confirmed the diagnosis. |
| doi_str_mv | 10.1002/pd.1970150913 |
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F. ; Jouan, H. ; Le Marec, B.</creator><creatorcontrib>Poulain, P. ; Odent, S. ; Maire, I. ; Milon, J. ; Proudhon, J. F. ; Jouan, H. ; Le Marec, B.</creatorcontrib><description>In a 20‐year‐old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a metabolic disorder. At 29 weeks, an amniotic fluid biochemical study revealed the presence of an abnormal band of free sialic acid, leading to a diagnosis of a congenital form of sialic acid storage disease. Termination of pregnancy was performed at 30 weeks. Measurement of free sialic acid in cultured fetal skin fibroblasts confirmed the diagnosis.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.1970150913</identifier><identifier>PMID: 8559759</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; Amniocentesis ; Ascites - diagnosis ; Ascites - diagnostic imaging ; Ascites - etiology ; Biological and medical sciences ; Cells, Cultured ; Consanguinity ; Facies ; Female ; fetal ascites ; Fetal Diseases - diagnosis ; Fetal Diseases - diagnostic imaging ; Fibroblasts - metabolism ; Gynecology. Andrology. Obstetrics ; Humans ; Liver - ultrastructure ; Lysosomal Storage Diseases - diagnosis ; Lysosomal Storage Diseases - diagnostic imaging ; Management. Prenatal diagnosis ; Medical sciences ; metabolic disease ; N-Acetylneuraminic Acid ; oligohydramnios ; Oligohydramnios - diagnosis ; Oligohydramnios - diagnostic imaging ; Oligohydramnios - etiology ; Pregnancy ; Pregnancy. Fetus. Placenta ; prenatal diagnosis ; Sialic Acids - metabolism ; Ultrasonography, Prenatal</subject><ispartof>Prenatal diagnosis, 1995-09, Vol.15 (9), p.864-867</ispartof><rights>Copyright © 1995 John Wiley & Sons, Ltd.</rights><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4033-84a318e0c989fc00b725cd5938f9637962828e1e6723dd9a72220a0d67f4c93c3</citedby><cites>FETCH-LOGICAL-c4033-84a318e0c989fc00b725cd5938f9637962828e1e6723dd9a72220a0d67f4c93c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.1970150913$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.1970150913$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3669574$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8559759$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Poulain, P.</creatorcontrib><creatorcontrib>Odent, S.</creatorcontrib><creatorcontrib>Maire, I.</creatorcontrib><creatorcontrib>Milon, J.</creatorcontrib><creatorcontrib>Proudhon, J. F.</creatorcontrib><creatorcontrib>Jouan, H.</creatorcontrib><creatorcontrib>Le Marec, B.</creatorcontrib><title>Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>In a 20‐year‐old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a metabolic disorder. At 29 weeks, an amniotic fluid biochemical study revealed the presence of an abnormal band of free sialic acid, leading to a diagnosis of a congenital form of sialic acid storage disease. Termination of pregnancy was performed at 30 weeks. Measurement of free sialic acid in cultured fetal skin fibroblasts confirmed the diagnosis.</description><subject>Adult</subject><subject>Amniocentesis</subject><subject>Ascites - diagnosis</subject><subject>Ascites - diagnostic imaging</subject><subject>Ascites - etiology</subject><subject>Biological and medical sciences</subject><subject>Cells, Cultured</subject><subject>Consanguinity</subject><subject>Facies</subject><subject>Female</subject><subject>fetal ascites</subject><subject>Fetal Diseases - diagnosis</subject><subject>Fetal Diseases - diagnostic imaging</subject><subject>Fibroblasts - metabolism</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Liver - ultrastructure</subject><subject>Lysosomal Storage Diseases - diagnosis</subject><subject>Lysosomal Storage Diseases - diagnostic imaging</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>metabolic disease</subject><subject>N-Acetylneuraminic Acid</subject><subject>oligohydramnios</subject><subject>Oligohydramnios - diagnosis</subject><subject>Oligohydramnios - diagnostic imaging</subject><subject>Oligohydramnios - etiology</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>prenatal diagnosis</subject><subject>Sialic Acids - metabolism</subject><subject>Ultrasonography, Prenatal</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kM1vEzEQxS0EKmnhyBHJB1TBYYs_1us1N1SaFhGgSCC4WVPbGwybderZiOa_r6Osgrgwlxnp_Wbm6RHyjLMzzph4vfZn3GjGFTNcPiAzzoyumBDyIZmxolSyVfwxOUb8VfBWGH1EjlqljFZmRtw8jNBTQBfHgBQGT1Mfl-nn1mdYDTHhG3qdwwA7ykdYDgkj0tRRoBihj46Ci57imDIsQ0EwAAb6Mg4-3FFX5ldPyKMOegxPp35Cvs0vvp5fVYvPl-_P3y4qVzMpq7YGydvAnGlN5xi70UI5r4xsO9NIbZpivg08NFpI7w1oIQQD5hvd1c5IJ0_I6f7uOqfbTcDRriK60PcwhLRBq3dVs7qA1R50OSHm0Nl1jivIW8uZ3YVq197-DbXwz6fDm5tV8Ad6SrHoLya95Ah9l2FwEQ-YbBqj9O6t3mN_Yh-2__9pr9_9Y2AyHHEMd4dNyL9to6VW9vunSyvmHz7-MF8WVst7SQ2c7A</recordid><startdate>199509</startdate><enddate>199509</enddate><creator>Poulain, P.</creator><creator>Odent, S.</creator><creator>Maire, I.</creator><creator>Milon, J.</creator><creator>Proudhon, J. F.</creator><creator>Jouan, H.</creator><creator>Le Marec, B.</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>199509</creationdate><title>Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)</title><author>Poulain, P. ; Odent, S. ; Maire, I. ; Milon, J. ; Proudhon, J. F. ; Jouan, H. ; Le Marec, B.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4033-84a318e0c989fc00b725cd5938f9637962828e1e6723dd9a72220a0d67f4c93c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Adult</topic><topic>Amniocentesis</topic><topic>Ascites - diagnosis</topic><topic>Ascites - diagnostic imaging</topic><topic>Ascites - etiology</topic><topic>Biological and medical sciences</topic><topic>Cells, Cultured</topic><topic>Consanguinity</topic><topic>Facies</topic><topic>Female</topic><topic>fetal ascites</topic><topic>Fetal Diseases - diagnosis</topic><topic>Fetal Diseases - diagnostic imaging</topic><topic>Fibroblasts - metabolism</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Liver - ultrastructure</topic><topic>Lysosomal Storage Diseases - diagnosis</topic><topic>Lysosomal Storage Diseases - diagnostic imaging</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>metabolic disease</topic><topic>N-Acetylneuraminic Acid</topic><topic>oligohydramnios</topic><topic>Oligohydramnios - diagnosis</topic><topic>Oligohydramnios - diagnostic imaging</topic><topic>Oligohydramnios - etiology</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>prenatal diagnosis</topic><topic>Sialic Acids - metabolism</topic><topic>Ultrasonography, Prenatal</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Poulain, P.</creatorcontrib><creatorcontrib>Odent, S.</creatorcontrib><creatorcontrib>Maire, I.</creatorcontrib><creatorcontrib>Milon, J.</creatorcontrib><creatorcontrib>Proudhon, J. F.</creatorcontrib><creatorcontrib>Jouan, H.</creatorcontrib><creatorcontrib>Le Marec, B.</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>Poulain, P.</au><au>Odent, S.</au><au>Maire, I.</au><au>Milon, J.</au><au>Proudhon, J. F.</au><au>Jouan, H.</au><au>Le Marec, B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>1995-09</date><risdate>1995</risdate><volume>15</volume><issue>9</issue><spage>864</spage><epage>867</epage><pages>864-867</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>In a 20‐year‐old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a metabolic disorder. At 29 weeks, an amniotic fluid biochemical study revealed the presence of an abnormal band of free sialic acid, leading to a diagnosis of a congenital form of sialic acid storage disease. Termination of pregnancy was performed at 30 weeks. Measurement of free sialic acid in cultured fetal skin fibroblasts confirmed the diagnosis.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>8559759</pmid><doi>10.1002/pd.1970150913</doi><tpages>4</tpages></addata></record> |
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| subjects | Adult Amniocentesis Ascites - diagnosis Ascites - diagnostic imaging Ascites - etiology Biological and medical sciences Cells, Cultured Consanguinity Facies Female fetal ascites Fetal Diseases - diagnosis Fetal Diseases - diagnostic imaging Fibroblasts - metabolism Gynecology. Andrology. Obstetrics Humans Liver - ultrastructure Lysosomal Storage Diseases - diagnosis Lysosomal Storage Diseases - diagnostic imaging Management. Prenatal diagnosis Medical sciences metabolic disease N-Acetylneuraminic Acid oligohydramnios Oligohydramnios - diagnosis Oligohydramnios - diagnostic imaging Oligohydramnios - etiology Pregnancy Pregnancy. Fetus. Placenta prenatal diagnosis Sialic Acids - metabolism Ultrasonography, Prenatal |
| title | Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case) |
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