{"id":"https://openalex.org/W2109727704","doi":"https://doi.org/10.1002/uog.14984","title":"OC05.07: Pathologic copy number variations ( CNVs ) in fetuses with a normal karyotype: does the indication for testing matter?","display_name":"OC05.07: Pathologic copy number variations ( CNVs ) in fetuses with a normal karyotype: does the indication for testing matter?","publication_year":2015,"publication_date":"2015-09-01","ids":{"openalex":"https://openalex.org/W2109727704","doi":"https://doi.org/10.1002/uog.14984","mag":"2109727704"},"language":"en","primary_location":{"id":"doi:10.1002/uog.14984","doi":"https://doi.org/10.1002/uog.14984","is_oa":true,"landing_page_url":"https://doi.org/10.1002/uog.14984","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.14984","source":{"id":"https://openalex.org/S22881060","display_name":"Ultrasound in Obstetrics and Gynecology","issn_l":"0960-7692","issn":["0960-7692","1469-0705"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-2","ki-jl-2","medline","norway-2"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ultrasound in Obstetrics &amp; Gynecology","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.14984","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061657035","display_name":"Eran Bornstein","orcid":"https://orcid.org/0000-0002-2603-8272","observed_orcids":["https://orcid.org/0000-0002-2603-8272"]},"institutions":[{"id":"https://openalex.org/I2800628709","display_name":"Lenox Hill Hospital","ror":"https://ror.org/0231d2y50","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1302444339","https://openalex.org/I2800628709"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"E. Bornstein","raw_affiliation_strings":["Obstetrics and Gynecology Lenox Hill Hospital  New York NY USA","Obstetrics and Gynecology, Lenox Hill Hospital, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Obstetrics and Gynecology Lenox Hill Hospital  New York NY USA","institution_ids":["https://openalex.org/I2800628709"]},{"raw_affiliation_string":"Obstetrics and Gynecology, Lenox Hill Hospital, New York, NY, USA","institution_ids":["https://openalex.org/I2800628709"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023189259","display_name":"S. Berger","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800628709","display_name":"Lenox Hill Hospital","ror":"https://ror.org/0231d2y50","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1302444339","https://openalex.org/I2800628709"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S. Berger","raw_affiliation_strings":["Obstetrics and Gynecology Lenox Hill Hospital  New York NY USA","Obstetrics and Gynecology, Lenox Hill Hospital, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Obstetrics and Gynecology Lenox Hill Hospital  New York NY USA","institution_ids":["https://openalex.org/I2800628709"]},{"raw_affiliation_string":"Obstetrics and Gynecology, Lenox Hill Hospital, New York, NY, USA","institution_ids":["https://openalex.org/I2800628709"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061084392","display_name":"Sau Wai Cheung","orcid":"https://orcid.org/0000-0002-3813-5256","observed_orcids":["https://orcid.org/0000-0002-3813-5256"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S.W. Cheung","raw_affiliation_strings":["Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111277614","display_name":"Katelyn Maliszewski","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I2800628709","display_name":"Lenox Hill Hospital","ror":"https://ror.org/0231d2y50","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1302444339","https://openalex.org/I2800628709"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K.T. Maliszewski","raw_affiliation_strings":["Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA","Obstetrics and Gynecology Lenox Hill Hospital  New York NY USA","Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA","Obstetrics and Gynecology Lenox Hill Hospital New York NY USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Obstetrics and Gynecology Lenox Hill Hospital  New York NY USA","institution_ids":["https://openalex.org/I2800628709"]},{"raw_affiliation_string":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Obstetrics and Gynecology Lenox Hill Hospital New York NY USA","institution_ids":["https://openalex.org/I2800628709"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011382435","display_name":"Carlos A. Bacino","orcid":"https://orcid.org/0000-0002-4342-5012","observed_orcids":["https://orcid.org/0000-0002-4342-5012"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C.A. Bacino","raw_affiliation_strings":["Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102744432","display_name":"Ankita Patel","orcid":"https://orcid.org/0000-0002-7720-0663","observed_orcids":["https://orcid.org/0000-0002-7720-0663"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. Patel","raw_affiliation_strings":["Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074963804","display_name":"Arthur L. Beaudet","orcid":"https://orcid.org/0000-0003-2083-3192","observed_orcids":["https://orcid.org/0000-0003-2083-3192"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A.L. Beaudet","raw_affiliation_strings":["Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110858723","display_name":"M. Y. Divon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800628709","display_name":"Lenox Hill Hospital","ror":"https://ror.org/0231d2y50","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1302444339","https://openalex.org/I2800628709"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M.Y. Divon","raw_affiliation_strings":["Obstetrics and Gynecology Lenox Hill Hospital  New York NY USA","Obstetrics and Gynecology, Lenox Hill Hospital, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Obstetrics and Gynecology Lenox Hill Hospital  New York NY USA","institution_ids":["https://openalex.org/I2800628709"]},{"raw_affiliation_string":"Obstetrics and Gynecology, Lenox Hill Hospital, New York, NY, USA","institution_ids":["https://openalex.org/I2800628709"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5061657035"],"corresponding_institution_ids":["https://openalex.org/I2800628709"],"apc_list":{"value":4940,"currency":"USD","value_usd":4940},"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"46","issue":"S1","first_page":"11","last_page":"11"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.7379999756813049},{"id":"https://openalex.org/keywords/normal-karyotype","display_name":"normal karyotype","score":0.777999997138977},{"id":"https://openalex.org/keywords/chromosomal-microarray","display_name":"chromosomal microarray analysis","score":0.8769999742507935},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.7350000143051147},{"id":"https://openalex.org/keywords/amniocentesis","display_name":"amniocentesis","score":0.8510000109672546},{"id":"https://openalex.org/keywords/chorionic-villus-sampling","display_name":"chorionic villus sampling","score":0.8970000147819519},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.8119999766349792},{"id":"https://openalex.org/keywords/nuchal-translucency","display_name":"nuchal translucency","score":0.7570000290870667},{"id":"https://openalex.org/keywords/structural-malformations","display_name":"structural malformations","score":0.8090000152587891},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.8169999718666077}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8119288682937622},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.761343240737915},{"id":"https://openalex.org/C2777966818","wikidata":"https://www.wikidata.org/wiki/Q473768","display_name":"Amniocentesis","level":5,"score":0.6799499988555908},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.561418890953064},{"id":"https://openalex.org/C191093355","wikidata":"https://www.wikidata.org/wiki/Q9250577","display_name":"Exact test","level":2,"score":0.5370060801506042},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.527684211730957},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.4983799457550049},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.48382702469825745},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.4619918167591095},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.4496881067752838},{"id":"https://openalex.org/C167135981","wikidata":"https://www.wikidata.org/wiki/Q2146302","display_name":"Retrospective cohort study","level":2,"score":0.4306294322013855},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.42562389373779297},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.3734189569950104},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.33242785930633545},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.25499439239501953},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.2517247498035431},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.24216589331626892},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.230366051197052},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.21839004755020142},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.11923953890800476},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.06968864798545837},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.06379508972167969},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1002/uog.14984","doi":"https://doi.org/10.1002/uog.14984","is_oa":true,"landing_page_url":"https://doi.org/10.1002/uog.14984","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.14984","source":{"id":"https://openalex.org/S22881060","display_name":"Ultrasound in Obstetrics and Gynecology","issn_l":"0960-7692","issn":["0960-7692","1469-0705"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-2","ki-jl-2","medline","norway-2"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ultrasound in Obstetrics &amp; Gynecology","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1002/uog.14984","doi":"https://doi.org/10.1002/uog.14984","is_oa":true,"landing_page_url":"https://doi.org/10.1002/uog.14984","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.14984","source":{"id":"https://openalex.org/S22881060","display_name":"Ultrasound in Obstetrics and Gynecology","issn_l":"0960-7692","issn":["0960-7692","1469-0705"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-2","ki-jl-2","medline","norway-2"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ultrasound in Obstetrics &amp; Gynecology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9763000011444092}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.5099999904632568}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2109727704.pdf","grobid_xml":"https://content.openalex.org/works/W2109727704.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W100053994","https://openalex.org/W2021137354","https://openalex.org/W1993344012","https://openalex.org/W1999416729","https://openalex.org/W1984091765","https://openalex.org/W2416027163","https://openalex.org/W106421233","https://openalex.org/W2045452822","https://openalex.org/W2410312979","https://openalex.org/W2426596748"],"abstract_inverted_index":{"To":[0],"assess":[1],"the":[2,9,103,119,134,160,193,201,207],"likelihood":[3],"of":[4,22,60,67,99,105,133,143,177,203],"pathologic":[5,61,106,144,204],"CNVs":[6,62,107,145,172,205],"based":[7],"on":[8],"specific":[10],"indication":[11],"for":[12,129,196],"chromosomal":[13],"microarray":[14],"analysis":[15,21],"(CMA).":[16],"We":[17],"performed":[18],"a":[19,29,33,174,180,197],"retrospective":[20],"amniocentesis":[23],"and":[24,85,116,123,154,186],"CVS":[25],"results":[26,135],"obtained":[27],"during":[28],"4-year":[30],"period":[31],"in":[32,46,108,138,149,173,206,219],"single":[34],"center.":[35],"3314":[36],"consecutive":[37],"patients":[38,77,109,150],"undergoing":[39],"invasive":[40],"genetic":[41,100,216],"testing":[42],"were":[43,127],"offered":[44],"CMA":[45,168,198],"addition":[47],"to":[48,54,118,159,214],"standard":[49],"karyotype.":[50,182],"2026":[51],"(61%)":[52],"elected":[53],"also":[55],"pursue":[56],"CMA.":[57],"The":[58,141],"prevalence":[59,104,142,202],"[abnormal":[63],"CNV":[64],"or":[65,82,96],"variants":[66],"unknown":[68],"significance":[69],"(VOUS)":[70],"\u2013":[71],"likely":[72],"abnormal]":[73],"was":[74,114,146],"compared":[75,117],"between":[76],"with":[78,87,110,151,179,192],"low-risk":[79,120,161,208],"indications":[80,89,153],"(AMA":[81],"parental":[83],"desire)":[84],"those":[86],"high-risk":[88,152],"(sonographic":[90],"abnormalities,":[91,157],"abnormal":[92],"aneuploidy":[93],"screen,":[94],"personal":[95],"familial":[97],"history":[98],"conditions).":[101],"Likewise,":[102],"different":[111],"sonographic":[112,156],"abnormalities":[113],"calculated":[115],"group.":[121,221],"Chi-square":[122],"Fisher's":[124],"exact":[125],"tests":[126],"used":[128],"statistical":[130],"analysis.":[131],"Summary":[132],"is":[136,210],"presented":[137],"table":[139],"1.":[140],"significantly":[147],"higher":[148],"specifically":[155],"relative":[158],"group":[162],"(all":[163],"p":[164],"<":[165],"0.05).":[166],"Prenatal":[167],"detected":[169],"clinically":[170],"relevant":[171],"substantial":[175],"number":[176],"fetuses":[178],"normal":[181],"Major":[183],"structural":[184],"malformations":[185],"NT":[187],"\u2265":[188],"3.0mm":[189],"are":[190],"associated":[191],"highest":[194],"risk":[195],"abnormality.":[199],"Additionally,":[200],"population":[209],"high":[211],"enough":[212],"(1:250)":[213],"suggest":[215],"counselling":[217],"even":[218],"this":[220]},"counts_by_year":[],"updated_date":"2026-08-21T09:56:20.448147","created_date":"2025-10-10T00:00:00"}
