Prenatal diagnosis of Holt‐Oram syndrome: Role of 3‐D ultrasonography
ABSTRACT Holt‐Oram syndrome (HOS) is an autosomal dominant disorder consisting of a congenital heart defect in combination with upper limb abnormalities. This report presents the ultrasonographic follow‐up of a fetus at risk for this syndrome. An abnormal four‐chamber view of the heart and slight sh...
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| Veröffentlicht in: | Congenital anomalies 2009-03, Vol.49 (1), p.38-41 |
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| container_title | Congenital anomalies |
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| creator | Sunagawa, Sorahiro Kikuchi, Akihiko Sano, Yoko Kita, Mariko Ono, Kyoko Horikoshi, Tsuguhiro Takagi, Kimiyo Kawame, Hiroshi |
| description | ABSTRACT
Holt‐Oram syndrome (HOS) is an autosomal dominant disorder consisting of a congenital heart defect in combination with upper limb abnormalities. This report presents the ultrasonographic follow‐up of a fetus at risk for this syndrome. An abnormal four‐chamber view of the heart and slight shortening of the forearm were found by prenatal ultrasound performed at 16 weeks of gestation. At 25 weeks of gestation, detailed sonographic examination clearly revealed abnormalities in the upper limbs and heart of the fetus. At 39 weeks of gestation, spontaneous labor and delivery produced a female infant weighting 2940 g. Postnatal examination of the infant confirmed the prenatal sonographic findings. 3‐D ultrasound has an important role in prenatal diagnosis of HOS, which is essential for proper genetic counseling. |
| doi_str_mv | 10.1111/j.1741-4520.2008.00211.x |
| format | Article |
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Holt‐Oram syndrome (HOS) is an autosomal dominant disorder consisting of a congenital heart defect in combination with upper limb abnormalities. This report presents the ultrasonographic follow‐up of a fetus at risk for this syndrome. An abnormal four‐chamber view of the heart and slight shortening of the forearm were found by prenatal ultrasound performed at 16 weeks of gestation. At 25 weeks of gestation, detailed sonographic examination clearly revealed abnormalities in the upper limbs and heart of the fetus. At 39 weeks of gestation, spontaneous labor and delivery produced a female infant weighting 2940 g. Postnatal examination of the infant confirmed the prenatal sonographic findings. 3‐D ultrasound has an important role in prenatal diagnosis of HOS, which is essential for proper genetic counseling.</description><identifier>ISSN: 0914-3505</identifier><identifier>EISSN: 1741-4520</identifier><identifier>DOI: 10.1111/j.1741-4520.2008.00211.x</identifier><identifier>PMID: 19243417</identifier><language>eng</language><publisher>Melbourne, Australia: Blackwell Publishing Asia</publisher><subject>3‐D ultrasonography ; Adult ; autosomal dominant disease ; Female ; Heart Defects, Congenital - diagnostic imaging ; Heart Defects, Congenital - embryology ; Holt‐Oram syndrome ; Humans ; Imaging, Three-Dimensional ; Limb Deformities, Congenital - diagnostic imaging ; Limb Deformities, Congenital - embryology ; Male ; Pedigree ; Pregnancy ; prenatal diagnosis ; Syndrome ; Ultrasonography, Prenatal ; upper limb and cardiovascular syndrome</subject><ispartof>Congenital anomalies, 2009-03, Vol.49 (1), p.38-41</ispartof><rights>2009 The Authors. Journal compilation © 2009 Japanese Teratology Society</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3551-fd36c8708477bb433813453fdf0e04b1e39f1ede515bcdcffce7dc1b6b71a1e23</citedby><cites>FETCH-LOGICAL-c3551-fd36c8708477bb433813453fdf0e04b1e39f1ede515bcdcffce7dc1b6b71a1e23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1741-4520.2008.00211.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1741-4520.2008.00211.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19243417$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sunagawa, Sorahiro</creatorcontrib><creatorcontrib>Kikuchi, Akihiko</creatorcontrib><creatorcontrib>Sano, Yoko</creatorcontrib><creatorcontrib>Kita, Mariko</creatorcontrib><creatorcontrib>Ono, Kyoko</creatorcontrib><creatorcontrib>Horikoshi, Tsuguhiro</creatorcontrib><creatorcontrib>Takagi, Kimiyo</creatorcontrib><creatorcontrib>Kawame, Hiroshi</creatorcontrib><title>Prenatal diagnosis of Holt‐Oram syndrome: Role of 3‐D ultrasonography</title><title>Congenital anomalies</title><addtitle>Congenit Anom (Kyoto)</addtitle><description>ABSTRACT
Holt‐Oram syndrome (HOS) is an autosomal dominant disorder consisting of a congenital heart defect in combination with upper limb abnormalities. This report presents the ultrasonographic follow‐up of a fetus at risk for this syndrome. An abnormal four‐chamber view of the heart and slight shortening of the forearm were found by prenatal ultrasound performed at 16 weeks of gestation. At 25 weeks of gestation, detailed sonographic examination clearly revealed abnormalities in the upper limbs and heart of the fetus. At 39 weeks of gestation, spontaneous labor and delivery produced a female infant weighting 2940 g. Postnatal examination of the infant confirmed the prenatal sonographic findings. 3‐D ultrasound has an important role in prenatal diagnosis of HOS, which is essential for proper genetic counseling.</description><subject>3‐D ultrasonography</subject><subject>Adult</subject><subject>autosomal dominant disease</subject><subject>Female</subject><subject>Heart Defects, Congenital - diagnostic imaging</subject><subject>Heart Defects, Congenital - embryology</subject><subject>Holt‐Oram syndrome</subject><subject>Humans</subject><subject>Imaging, Three-Dimensional</subject><subject>Limb Deformities, Congenital - diagnostic imaging</subject><subject>Limb Deformities, Congenital - embryology</subject><subject>Male</subject><subject>Pedigree</subject><subject>Pregnancy</subject><subject>prenatal diagnosis</subject><subject>Syndrome</subject><subject>Ultrasonography, Prenatal</subject><subject>upper limb and cardiovascular syndrome</subject><issn>0914-3505</issn><issn>1741-4520</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkE1OwzAQRi0EoqVwBZQVuwRPbOcHsakKtJUqFSFYW05il1ROXOxGNDuOwBk5CQmtYMtsZqTvzYz0EPIAB9DV9TqAmIJPWYiDEOMkwDgECHZHaPgbHKMhToH6hGE2QGfOrTsoimJ8igaQhpRQiIdo_mhlLbZCe0UpVrVxpfOM8mZGb78-PpdWVJ5r68KaSt54T0bLPiVddOc1emuFM7VZWbF5bc_RiRLayYtDH6GXh_vnycxfLKfzyXjh54Qx8FVBojyJcULjOMsoIQkQyogqFJaYZiBJqkAWkgHL8iJXKpdxkUMWZTEIkCEZoav93Y01b410W16VLpdai1qaxvEoSiNMQtaByR7MrXHOSsU3tqyEbTlg3mvka97b4r0t3mvkPxr5rlu9PPxoskoWf4sHbx1wuwfeSy3bfx_mk-m4G8g37J6CVg</recordid><startdate>200903</startdate><enddate>200903</enddate><creator>Sunagawa, Sorahiro</creator><creator>Kikuchi, Akihiko</creator><creator>Sano, Yoko</creator><creator>Kita, Mariko</creator><creator>Ono, Kyoko</creator><creator>Horikoshi, Tsuguhiro</creator><creator>Takagi, Kimiyo</creator><creator>Kawame, Hiroshi</creator><general>Blackwell Publishing Asia</general><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>200903</creationdate><title>Prenatal diagnosis of Holt‐Oram syndrome: Role of 3‐D ultrasonography</title><author>Sunagawa, Sorahiro ; Kikuchi, Akihiko ; Sano, Yoko ; Kita, Mariko ; Ono, Kyoko ; Horikoshi, Tsuguhiro ; Takagi, Kimiyo ; Kawame, Hiroshi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3551-fd36c8708477bb433813453fdf0e04b1e39f1ede515bcdcffce7dc1b6b71a1e23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>3‐D ultrasonography</topic><topic>Adult</topic><topic>autosomal dominant disease</topic><topic>Female</topic><topic>Heart Defects, Congenital - diagnostic imaging</topic><topic>Heart Defects, Congenital - embryology</topic><topic>Holt‐Oram syndrome</topic><topic>Humans</topic><topic>Imaging, Three-Dimensional</topic><topic>Limb Deformities, Congenital - diagnostic imaging</topic><topic>Limb Deformities, Congenital - embryology</topic><topic>Male</topic><topic>Pedigree</topic><topic>Pregnancy</topic><topic>prenatal diagnosis</topic><topic>Syndrome</topic><topic>Ultrasonography, Prenatal</topic><topic>upper limb and cardiovascular syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sunagawa, Sorahiro</creatorcontrib><creatorcontrib>Kikuchi, Akihiko</creatorcontrib><creatorcontrib>Sano, Yoko</creatorcontrib><creatorcontrib>Kita, Mariko</creatorcontrib><creatorcontrib>Ono, Kyoko</creatorcontrib><creatorcontrib>Horikoshi, Tsuguhiro</creatorcontrib><creatorcontrib>Takagi, Kimiyo</creatorcontrib><creatorcontrib>Kawame, Hiroshi</creatorcontrib><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>Congenital anomalies</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sunagawa, Sorahiro</au><au>Kikuchi, Akihiko</au><au>Sano, Yoko</au><au>Kita, Mariko</au><au>Ono, Kyoko</au><au>Horikoshi, Tsuguhiro</au><au>Takagi, Kimiyo</au><au>Kawame, Hiroshi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal diagnosis of Holt‐Oram syndrome: Role of 3‐D ultrasonography</atitle><jtitle>Congenital anomalies</jtitle><addtitle>Congenit Anom (Kyoto)</addtitle><date>2009-03</date><risdate>2009</risdate><volume>49</volume><issue>1</issue><spage>38</spage><epage>41</epage><pages>38-41</pages><issn>0914-3505</issn><eissn>1741-4520</eissn><abstract>ABSTRACT
Holt‐Oram syndrome (HOS) is an autosomal dominant disorder consisting of a congenital heart defect in combination with upper limb abnormalities. This report presents the ultrasonographic follow‐up of a fetus at risk for this syndrome. An abnormal four‐chamber view of the heart and slight shortening of the forearm were found by prenatal ultrasound performed at 16 weeks of gestation. At 25 weeks of gestation, detailed sonographic examination clearly revealed abnormalities in the upper limbs and heart of the fetus. At 39 weeks of gestation, spontaneous labor and delivery produced a female infant weighting 2940 g. Postnatal examination of the infant confirmed the prenatal sonographic findings. 3‐D ultrasound has an important role in prenatal diagnosis of HOS, which is essential for proper genetic counseling.</abstract><cop>Melbourne, Australia</cop><pub>Blackwell Publishing Asia</pub><pmid>19243417</pmid><doi>10.1111/j.1741-4520.2008.00211.x</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Congenital anomalies, 2009-03, Vol.49 (1), p.38-41 |
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| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | 3‐D ultrasonography Adult autosomal dominant disease Female Heart Defects, Congenital - diagnostic imaging Heart Defects, Congenital - embryology Holt‐Oram syndrome Humans Imaging, Three-Dimensional Limb Deformities, Congenital - diagnostic imaging Limb Deformities, Congenital - embryology Male Pedigree Pregnancy prenatal diagnosis Syndrome Ultrasonography, Prenatal upper limb and cardiovascular syndrome |
| title | Prenatal diagnosis of Holt‐Oram syndrome: Role of 3‐D ultrasonography |
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