Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness
Objectives To determine the incidence and to examine the karyotype and the outcome of fetuses diagnosed with cystic hygroma (CH) at 11–14 weeks of gestation. Methods The presence of bilateral cystic anechoic cavities in the neck, nuchal translucency (NT), malformations and hydrops was prospectively...
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| Veröffentlicht in: | Prenatal diagnosis 2006-04, Vol.26 (4), p.369-372 |
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| creator | Kharrat, Richard Yamamoto, Masami Roume, Joelle Couderc, Sophie Vialard, Francois Hillion, Yvette Ville, Yves |
| description | Objectives
To determine the incidence and to examine the karyotype and the outcome of fetuses diagnosed with cystic hygroma (CH) at 11–14 weeks of gestation.
Methods
The presence of bilateral cystic anechoic cavities in the neck, nuchal translucency (NT), malformations and hydrops was prospectively recorded in 6894 ultrasound examinations in the first trimester, between 2001 and 2004.
Results
Forty‐two fetuses (0.62%) were diagnosed with CH in the first trimester of pregnancy and 60% of these had an abnormal karyotype. NT was ≥3 mm in 83% and hydrops was present in 40% of the cases. The karyotype was abnormal in 25 (69%) of these, showing trisomy 18 and 45,XO more often than trisomy 21. NT was |
| doi_str_mv | 10.1002/pd.1423 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_67820034</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>67820034</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4143-1125589a81398be6c2cc0fde699992281970a6c688f69f72b96f423de4d9a9db3</originalsourceid><addsrcrecordid>eNqFkU1v1DAQhi0EoktB_APkC3BAKf5InORYtlA-yvIhEEfLa4-7pkkcbEclV345XjaiJ4RlyZbnmRnP-yL0kJITSgh7PpoTWjJ-C60oaeuCMMZvoxWh-c6bih6hezF-z2DD2vouOqKiEoKUbIV-vVNh9mkeAavBYD8l7XvA3mILaYoQsXHqcvARDL52aYf1HJPTeDdfBt8r7AacdoCtCzHhFFwPMUHYPwfoVHI-xz0eJr1TXY6rIXaThkHPOc3pqwFivI_uWNVFeLCcx-jrq5df1q-Liw_nb9anF4UuackLSllVNa1qKG-bLQjNtCbWgGjzYqzJsxIltGgaK1pbs20rbJbEQGla1ZotP0ZPDnXH4H9M-Z-yd1FD16kB_BSlqBtGCC__C9KakirvDD49gDr4GANYOWYFsqCSErn3RY5G7n3J5KOl5LTtwdxwixEZeLwAKmrV2ayUdvGGq0Xm_rR8duCuXQfzv_rJj2dL2-JAu-zKz7-0Cld5Wl5X8tvmXL4926w_bd6_kJ_5b-d-s5g</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>17105105</pqid></control><display><type>article</type><title>Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Kharrat, Richard ; Yamamoto, Masami ; Roume, Joelle ; Couderc, Sophie ; Vialard, Francois ; Hillion, Yvette ; Ville, Yves</creator><creatorcontrib>Kharrat, Richard ; Yamamoto, Masami ; Roume, Joelle ; Couderc, Sophie ; Vialard, Francois ; Hillion, Yvette ; Ville, Yves</creatorcontrib><description>Objectives
To determine the incidence and to examine the karyotype and the outcome of fetuses diagnosed with cystic hygroma (CH) at 11–14 weeks of gestation.
Methods
The presence of bilateral cystic anechoic cavities in the neck, nuchal translucency (NT), malformations and hydrops was prospectively recorded in 6894 ultrasound examinations in the first trimester, between 2001 and 2004.
Results
Forty‐two fetuses (0.62%) were diagnosed with CH in the first trimester of pregnancy and 60% of these had an abnormal karyotype. NT was ≥3 mm in 83% and hydrops was present in 40% of the cases. The karyotype was abnormal in 25 (69%) of these, showing trisomy 18 and 45,XO more often than trisomy 21. NT was <3 mm in seven cases (17%); no hydrops was present and only one had an abnormal karyotype (47 + 18). Eight babies with CH without aneuploidy or hydrops were born alive, seven among them were without malformations and are developing normally at 1 to 18 months of age, the remaining one presented with CHARGE syndrome.
Conclusions
CH is an independent entity from NT and its association with increased NT carries a poor prognosis. Copyright © 2006 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.1423</identifier><identifier>PMID: 16566042</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; aneuploidy ; Biological and medical sciences ; Blood and lymphatic vessels ; Cardiology. Vascular system ; Chromosomes, Human, Pair 18 - genetics ; Congenital Abnormalities - epidemiology ; Congenital Abnormalities - genetics ; cystic hygroma ; Diseases of the lymphatic vessels ; Female ; first trimester ; Gestational Age ; Gynecology. Andrology. Obstetrics ; Humans ; Hydrops Fetalis - epidemiology ; Karyotyping ; Lymphangioma, Cystic - diagnostic imaging ; Lymphangioma, Cystic - epidemiology ; Lymphangioma, Cystic - genetics ; Management. Prenatal diagnosis ; Maternal Age ; Medical sciences ; nuchal translucency ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Outcome ; Pregnancy Trimester, First ; Pregnancy. Fetus. Placenta ; Trisomy ; Ultrasonography, Prenatal ; ultrasound</subject><ispartof>Prenatal diagnosis, 2006-04, Vol.26 (4), p.369-372</ispartof><rights>Copyright © 2006 John Wiley & Sons, Ltd.</rights><rights>2006 INIST-CNRS</rights><rights>Copyright 2006 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4143-1125589a81398be6c2cc0fde699992281970a6c688f69f72b96f423de4d9a9db3</citedby><cites>FETCH-LOGICAL-c4143-1125589a81398be6c2cc0fde699992281970a6c688f69f72b96f423de4d9a9db3</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.1423$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.1423$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17666005$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16566042$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kharrat, Richard</creatorcontrib><creatorcontrib>Yamamoto, Masami</creatorcontrib><creatorcontrib>Roume, Joelle</creatorcontrib><creatorcontrib>Couderc, Sophie</creatorcontrib><creatorcontrib>Vialard, Francois</creatorcontrib><creatorcontrib>Hillion, Yvette</creatorcontrib><creatorcontrib>Ville, Yves</creatorcontrib><title>Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>Objectives
To determine the incidence and to examine the karyotype and the outcome of fetuses diagnosed with cystic hygroma (CH) at 11–14 weeks of gestation.
Methods
The presence of bilateral cystic anechoic cavities in the neck, nuchal translucency (NT), malformations and hydrops was prospectively recorded in 6894 ultrasound examinations in the first trimester, between 2001 and 2004.
Results
Forty‐two fetuses (0.62%) were diagnosed with CH in the first trimester of pregnancy and 60% of these had an abnormal karyotype. NT was ≥3 mm in 83% and hydrops was present in 40% of the cases. The karyotype was abnormal in 25 (69%) of these, showing trisomy 18 and 45,XO more often than trisomy 21. NT was <3 mm in seven cases (17%); no hydrops was present and only one had an abnormal karyotype (47 + 18). Eight babies with CH without aneuploidy or hydrops were born alive, seven among them were without malformations and are developing normally at 1 to 18 months of age, the remaining one presented with CHARGE syndrome.
Conclusions
CH is an independent entity from NT and its association with increased NT carries a poor prognosis. Copyright © 2006 John Wiley & Sons, Ltd.</description><subject>Adult</subject><subject>aneuploidy</subject><subject>Biological and medical sciences</subject><subject>Blood and lymphatic vessels</subject><subject>Cardiology. Vascular system</subject><subject>Chromosomes, Human, Pair 18 - genetics</subject><subject>Congenital Abnormalities - epidemiology</subject><subject>Congenital Abnormalities - genetics</subject><subject>cystic hygroma</subject><subject>Diseases of the lymphatic vessels</subject><subject>Female</subject><subject>first trimester</subject><subject>Gestational Age</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Hydrops Fetalis - epidemiology</subject><subject>Karyotyping</subject><subject>Lymphangioma, Cystic - diagnostic imaging</subject><subject>Lymphangioma, Cystic - epidemiology</subject><subject>Lymphangioma, Cystic - genetics</subject><subject>Management. Prenatal diagnosis</subject><subject>Maternal Age</subject><subject>Medical sciences</subject><subject>nuchal translucency</subject><subject>Nuchal Translucency Measurement</subject><subject>Pregnancy</subject><subject>Pregnancy Outcome</subject><subject>Pregnancy Trimester, First</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Trisomy</subject><subject>Ultrasonography, Prenatal</subject><subject>ultrasound</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1v1DAQhi0EoktB_APkC3BAKf5InORYtlA-yvIhEEfLa4-7pkkcbEclV345XjaiJ4RlyZbnmRnP-yL0kJITSgh7PpoTWjJ-C60oaeuCMMZvoxWh-c6bih6hezF-z2DD2vouOqKiEoKUbIV-vVNh9mkeAavBYD8l7XvA3mILaYoQsXHqcvARDL52aYf1HJPTeDdfBt8r7AacdoCtCzHhFFwPMUHYPwfoVHI-xz0eJr1TXY6rIXaThkHPOc3pqwFivI_uWNVFeLCcx-jrq5df1q-Liw_nb9anF4UuackLSllVNa1qKG-bLQjNtCbWgGjzYqzJsxIltGgaK1pbs20rbJbEQGla1ZotP0ZPDnXH4H9M-Z-yd1FD16kB_BSlqBtGCC__C9KakirvDD49gDr4GANYOWYFsqCSErn3RY5G7n3J5KOl5LTtwdxwixEZeLwAKmrV2ayUdvGGq0Xm_rR8duCuXQfzv_rJj2dL2-JAu-zKz7-0Cld5Wl5X8tvmXL4926w_bd6_kJ_5b-d-s5g</recordid><startdate>200604</startdate><enddate>200604</enddate><creator>Kharrat, Richard</creator><creator>Yamamoto, Masami</creator><creator>Roume, Joelle</creator><creator>Couderc, Sophie</creator><creator>Vialard, Francois</creator><creator>Hillion, Yvette</creator><creator>Ville, Yves</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200604</creationdate><title>Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness</title><author>Kharrat, Richard ; Yamamoto, Masami ; Roume, Joelle ; Couderc, Sophie ; Vialard, Francois ; Hillion, Yvette ; Ville, Yves</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4143-1125589a81398be6c2cc0fde699992281970a6c688f69f72b96f423de4d9a9db3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Adult</topic><topic>aneuploidy</topic><topic>Biological and medical sciences</topic><topic>Blood and lymphatic vessels</topic><topic>Cardiology. Vascular system</topic><topic>Chromosomes, Human, Pair 18 - genetics</topic><topic>Congenital Abnormalities - epidemiology</topic><topic>Congenital Abnormalities - genetics</topic><topic>cystic hygroma</topic><topic>Diseases of the lymphatic vessels</topic><topic>Female</topic><topic>first trimester</topic><topic>Gestational Age</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Hydrops Fetalis - epidemiology</topic><topic>Karyotyping</topic><topic>Lymphangioma, Cystic - diagnostic imaging</topic><topic>Lymphangioma, Cystic - epidemiology</topic><topic>Lymphangioma, Cystic - genetics</topic><topic>Management. Prenatal diagnosis</topic><topic>Maternal Age</topic><topic>Medical sciences</topic><topic>nuchal translucency</topic><topic>Nuchal Translucency Measurement</topic><topic>Pregnancy</topic><topic>Pregnancy Outcome</topic><topic>Pregnancy Trimester, First</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Trisomy</topic><topic>Ultrasonography, Prenatal</topic><topic>ultrasound</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kharrat, Richard</creatorcontrib><creatorcontrib>Yamamoto, Masami</creatorcontrib><creatorcontrib>Roume, Joelle</creatorcontrib><creatorcontrib>Couderc, Sophie</creatorcontrib><creatorcontrib>Vialard, Francois</creatorcontrib><creatorcontrib>Hillion, Yvette</creatorcontrib><creatorcontrib>Ville, Yves</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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kharrat, Richard</au><au>Yamamoto, Masami</au><au>Roume, Joelle</au><au>Couderc, Sophie</au><au>Vialard, Francois</au><au>Hillion, Yvette</au><au>Ville, Yves</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2006-04</date><risdate>2006</risdate><volume>26</volume><issue>4</issue><spage>369</spage><epage>372</epage><pages>369-372</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>Objectives
To determine the incidence and to examine the karyotype and the outcome of fetuses diagnosed with cystic hygroma (CH) at 11–14 weeks of gestation.
Methods
The presence of bilateral cystic anechoic cavities in the neck, nuchal translucency (NT), malformations and hydrops was prospectively recorded in 6894 ultrasound examinations in the first trimester, between 2001 and 2004.
Results
Forty‐two fetuses (0.62%) were diagnosed with CH in the first trimester of pregnancy and 60% of these had an abnormal karyotype. NT was ≥3 mm in 83% and hydrops was present in 40% of the cases. The karyotype was abnormal in 25 (69%) of these, showing trisomy 18 and 45,XO more often than trisomy 21. NT was <3 mm in seven cases (17%); no hydrops was present and only one had an abnormal karyotype (47 + 18). Eight babies with CH without aneuploidy or hydrops were born alive, seven among them were without malformations and are developing normally at 1 to 18 months of age, the remaining one presented with CHARGE syndrome.
Conclusions
CH is an independent entity from NT and its association with increased NT carries a poor prognosis. Copyright © 2006 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>16566042</pmid><doi>10.1002/pd.1423</doi><tpages>4</tpages></addata></record> |
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| ispartof | Prenatal diagnosis, 2006-04, Vol.26 (4), p.369-372 |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adult aneuploidy Biological and medical sciences Blood and lymphatic vessels Cardiology. Vascular system Chromosomes, Human, Pair 18 - genetics Congenital Abnormalities - epidemiology Congenital Abnormalities - genetics cystic hygroma Diseases of the lymphatic vessels Female first trimester Gestational Age Gynecology. Andrology. Obstetrics Humans Hydrops Fetalis - epidemiology Karyotyping Lymphangioma, Cystic - diagnostic imaging Lymphangioma, Cystic - epidemiology Lymphangioma, Cystic - genetics Management. Prenatal diagnosis Maternal Age Medical sciences nuchal translucency Nuchal Translucency Measurement Pregnancy Pregnancy Outcome Pregnancy Trimester, First Pregnancy. Fetus. Placenta Trisomy Ultrasonography, Prenatal ultrasound |
| title | Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness |
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