{"id":"https://openalex.org/W2005303055","doi":"https://doi.org/10.1002/pd.1970080610","title":"Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling","display_name":"Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling","publication_year":1988,"publication_date":"1988-07-01","ids":{"openalex":"https://openalex.org/W2005303055","doi":"https://doi.org/10.1002/pd.1970080610","mag":"2005303055","pmid":"https://pubmed.ncbi.nlm.nih.gov/3211847"},"language":"en","primary_location":{"id":"doi:10.1002/pd.1970080610","doi":"https://doi.org/10.1002/pd.1970080610","is_oa":false,"landing_page_url":"https://doi.org/10.1002/pd.1970080610","pdf_url":null,"source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"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":"Prenatal Diagnosis","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061371974","display_name":"David Frederick Callen","orcid":"https://orcid.org/0000-0002-6189-9991","observed_orcids":["https://orcid.org/0000-0002-6189-9991"]},"institutions":[{"id":"https://openalex.org/I2801308011","display_name":"Women's and Children's Hospital","ror":"https://ror.org/03kwrfk72","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801308011"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"D. F. Callen","raw_affiliation_strings":["Cytogenetics Unit, Adelaide Children's Hospital, South Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Unit, Adelaide Children's Hospital, South Australia","institution_ids":["https://openalex.org/I2801308011"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013379776","display_name":"George Korban","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099777","display_name":"Queen Elizabeth Hospital","ror":"https://ror.org/00x362k69","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210099777","https://openalex.org/I4392738059"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"G. Korban","raw_affiliation_strings":["Genetics Department, The Queen Elizabeth Hospital, South Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Department, The Queen Elizabeth Hospital, South Australia","institution_ids":["https://openalex.org/I4210099777"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114012354","display_name":"Garey W. Dawson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801350665","display_name":"Monash Medical Centre","ror":"https://ror.org/036s9kg65","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801350665","https://openalex.org/I4210121067"]},{"id":"https://openalex.org/I4210121067","display_name":"Monash Health","ror":"https://ror.org/02t1bej08","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210121067"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"G. Dawson","raw_affiliation_strings":["Cytogenetics Unit, Monash Medical Centre, Victoria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Unit, Monash Medical Centre, Victoria","institution_ids":["https://openalex.org/I2801350665","https://openalex.org/I4210121067"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019504331","display_name":"Lucy Gugasyan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801350665","display_name":"Monash Medical Centre","ror":"https://ror.org/036s9kg65","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801350665","https://openalex.org/I4210121067"]},{"id":"https://openalex.org/I4210121067","display_name":"Monash Health","ror":"https://ror.org/02t1bej08","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210121067"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"L. Gugasyan","raw_affiliation_strings":["Cytogenetics Unit, Monash Medical Centre, Victoria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Unit, Monash Medical Centre, Victoria","institution_ids":["https://openalex.org/I2801350665","https://openalex.org/I4210121067"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039318183","display_name":"E.J. Krumins","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1331142282","display_name":"Royal Women's Hospital","ror":"https://ror.org/03grnna41","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1331142282"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"E. J. M. Krumins","raw_affiliation_strings":["Cytogenetics Unit, Department of Pathology, Royal Women's Hospital, Victoria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Unit, Department of Pathology, Royal Women's Hospital, Victoria","institution_ids":["https://openalex.org/I1331142282"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046052585","display_name":"Sam Z. Eichenbaum","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1331142282","display_name":"Royal Women's Hospital","ror":"https://ror.org/03grnna41","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1331142282"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"S. Eichenbaum","raw_affiliation_strings":["Cytogenetics Unit, Department of Pathology, Royal Women's Hospital, Victoria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Unit, Department of Pathology, Royal Women's Hospital, Victoria","institution_ids":["https://openalex.org/I1331142282"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037441202","display_name":"J. Petrass","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1331142282","display_name":"Royal Women's Hospital","ror":"https://ror.org/03grnna41","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1331142282"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"J. Petrass","raw_affiliation_strings":["Cytogenetics Unit, Department of Pathology, Royal Women's Hospital, Victoria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Unit, Department of Pathology, Royal Women's Hospital, Victoria","institution_ids":["https://openalex.org/I1331142282"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022885235","display_name":"Stuart Purvis\u2010Smith","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108821","display_name":"Prince of Wales Hospital","ror":"https://ror.org/022arq532","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210108821"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"S. Purvis\u2010Smith","raw_affiliation_strings":["Cytogenetics Unit, Prince of Wales Hospital, New South Wales"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Unit, Prince of Wales Hospital, New South Wales","institution_ids":["https://openalex.org/I4210108821"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110121311","display_name":"Arabella Smith","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Smith","raw_affiliation_strings":["Cylogenetics Unit, Oliver Latham Laboratories, New South Wales"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cylogenetics Unit, Oliver Latham Laboratories, New South Wales","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026855251","display_name":"Gesina den Dulk","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G. Den Dulk","raw_affiliation_strings":["Cylogenetics Unit, Oliver Latham Laboratories, New South Wales"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cylogenetics Unit, Oliver Latham Laboratories, New South Wales","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012652688","display_name":"Nicholas G. Martin","orcid":"https://orcid.org/0000-0003-4069-8020","observed_orcids":["https://orcid.org/0000-0003-4069-8020"]},"institutions":[{"id":"https://openalex.org/I2799393793","display_name":"Royal Brisbane and Women's Hospital","ror":"https://ror.org/05p52kj31","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1302211766","https://openalex.org/I2799393793","https://openalex.org/I2801244131"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"N. Martin","raw_affiliation_strings":["Cytogenetics Unit, Royal Brisbane Hospital, Queensland, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Unit, Royal Brisbane Hospital, Queensland, Australia","institution_ids":["https://openalex.org/I2799393793"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5061371974"],"corresponding_institution_ids":["https://openalex.org/I2801308011"],"apc_list":{"value":4640,"currency":"USD","value_usd":4640},"apc_paid":null,"fwci":16.8481,"has_fulltext":false,"cited_by_count":72,"citation_normalized_percentile":{"value":0.99645516,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"8","issue":"6","first_page":"453","last_page":"460"},"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/T11732","display_name":"Assisted Reproductive Technology and Twin Pregnancy","score":0.0,"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":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/chorionic-villus-sampling","display_name":"chorionic villus sampling","score":0.9700000286102295},{"id":"https://openalex.org/keywords/placental-mosaicism","display_name":"placental mosaicism","score":0.9440000057220459},{"id":"https://openalex.org/keywords/fetal-mosaicism","display_name":"fetal mosaicism","score":0.800000011920929},{"id":"https://openalex.org/keywords/trisomy-16","display_name":"trisomy 16","score":0.8360000252723694},{"id":"https://openalex.org/keywords/monosomy-x","display_name":"monosomy X","score":0.8920000195503235},{"id":"https://openalex.org/keywords/tetraploidy","display_name":"tetraploidy","score":0.8579999804496765},{"id":"https://openalex.org/keywords/trisomy-18","display_name":"trisomy 18","score":0.9800000190734863},{"id":"https://openalex.org/keywords/false-negative-results","display_name":"false-negative results","score":0.7049999833106995}],"concepts":[{"id":"https://openalex.org/C2776555163","wikidata":"https://www.wikidata.org/wiki/Q1076497","display_name":"Chorionic villus sampling","level":5,"score":0.8618817925453186},{"id":"https://openalex.org/C2781385326","wikidata":"https://www.wikidata.org/wiki/Q2272222","display_name":"Chorionic villi","level":5,"score":0.8252436518669128},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.8147823810577393},{"id":"https://openalex.org/C2777966818","wikidata":"https://www.wikidata.org/wiki/Q473768","display_name":"Amniocentesis","level":5,"score":0.8083404302597046},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.6998223066329956},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.6051374673843384},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.5774224996566772},{"id":"https://openalex.org/C2776953305","wikidata":"https://www.wikidata.org/wiki/Q1212935","display_name":"Placenta","level":4,"score":0.540726363658905},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5403814911842346},{"id":"https://openalex.org/C16685009","wikidata":"https://www.wikidata.org/wiki/Q335057","display_name":"Andrology","level":1,"score":0.43623971939086914},{"id":"https://openalex.org/C2779142324","wikidata":"https://www.wikidata.org/wiki/Q3321288","display_name":"Monosomy","level":5,"score":0.43051815032958984},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.42440152168273926},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.36028945446014404},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.3507145047187805},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.28126466274261475},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.26111191511154175},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.26078325510025024},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.22958871722221375},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D001707","descriptor_name":"Biopsy, Needle","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002824","descriptor_name":"Chorionic Villi","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":true},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D002875","descriptor_name":"Chromosomes","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D002875","descriptor_name":"Chromosomes","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005333","descriptor_name":"Fetus","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/pd.1970080610","doi":"https://doi.org/10.1002/pd.1970080610","is_oa":false,"landing_page_url":"https://doi.org/10.1002/pd.1970080610","pdf_url":null,"source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"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":"Prenatal Diagnosis","raw_type":"journal-article"},{"id":"pmid:3211847","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3211847","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Prenatal diagnosis","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8999999761581421,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W194184542","https://openalex.org/W1965048491","https://openalex.org/W1976619207","https://openalex.org/W1976786213","https://openalex.org/W1988023101","https://openalex.org/W1997442821","https://openalex.org/W1997652269","https://openalex.org/W1998298027","https://openalex.org/W2001073323","https://openalex.org/W2017503045","https://openalex.org/W2062993930","https://openalex.org/W2066213493","https://openalex.org/W2070573549","https://openalex.org/W2078285354","https://openalex.org/W2079110896","https://openalex.org/W2092312692","https://openalex.org/W2096582997","https://openalex.org/W2109256331","https://openalex.org/W2124768370"],"related_works":["https://openalex.org/W2155265339","https://openalex.org/W4242021027","https://openalex.org/W1989695334","https://openalex.org/W2031960642","https://openalex.org/W2754490428","https://openalex.org/W2059271057","https://openalex.org/W2012223987","https://openalex.org/W2098902551","https://openalex.org/W1986724407","https://openalex.org/W2029362192"],"abstract_inverted_index":{"From":[0],"a":[1,67],"total":[2],"of":[3,19,25,42,108],"1312":[4],"diagnostic":[5],"chorionic":[6,21,109],"villus":[7],"samplings":[8],"(CVS)":[9],"there":[10],"were":[11,93,114],"22":[12],"which":[13],"showed":[14,100],"discordance":[15],"between":[16],"the":[17,20,26,40,45,51,59,74,82,88,121],"karyotype":[18,47,53,61,76],"villi":[22,110],"and":[23,70,111,119],"that":[24,35],"fetus.":[27],"This":[28],"frequency":[29],"was":[30,48,54,62,77,84,90],"some":[31],"20-fold":[32],"higher":[33],"than":[34],"reported":[36],"at":[37],"amniocentesis.":[38],"In":[39,56,79],"majority":[41],"discordant":[43],"cases,":[44,58],"fetal":[46,75,112],"normal":[49,102],"while":[50,73,87,104],"placental":[52,60],"mosaic.":[55,91],"four":[57],"non-mosaic":[63],"(a":[64],"trisomy":[65,85],"16,":[66],"monosomy":[68],"X,":[69],"two":[71,94],"tetraploids)":[72],"normal.":[78],"one":[80,117],"case,":[81],"placenta":[83],"18":[86],"fetus":[89],"There":[92],"'false-negative'":[95],"results":[96],"where":[97],"short-term":[98],"methods":[99],"only":[101],"cells":[103,113],"both":[105],"long-term":[106],"cultures":[107],"mosaic,":[115],"in":[116,120],"46,XY/47,XXY":[118],"other":[122],"46,XY/47,XY,+21.":[123]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
