{"id":"https://openalex.org/W1605970953","doi":null,"title":"Accuracy of the clinical diagnosis of Down syndrome.","display_name":"Accuracy of the clinical diagnosis of Down syndrome.","publication_year":2004,"publication_date":"2004-05-01","ids":{"openalex":"https://openalex.org/W1605970953","mag":"1605970953","pmid":"https://pubmed.ncbi.nlm.nih.gov/15244118","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2475449"},"language":"en","primary_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2475449","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2475449","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Ulster Med J","raw_type":"Text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2475449","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113261556","display_name":"Lauren Keenan Devlin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802808109","display_name":"Belfast City Hospital","ror":"https://ror.org/02405mj67","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1289110261","https://openalex.org/I2802808109"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"L Devlin","raw_affiliation_strings":["Department of Medical Genetics, Belfast City Hospital Trust, Lisburn Road, Belfast BT9 7AB"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Belfast City Hospital Trust, Lisburn Road, Belfast BT9 7AB","institution_ids":["https://openalex.org/I2802808109"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059254665","display_name":"Patrick J. Morrison","orcid":"https://orcid.org/0000-0002-2823-1762","observed_orcids":["https://orcid.org/0000-0002-2823-1762","https://orcid.org/0000-0003-0773-7817","https://orcid.org/0000-0003-0920-3405"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P J Morrison","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.9161,"has_fulltext":false,"cited_by_count":100,"citation_normalized_percentile":{"value":0.89955667,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"73","issue":"1","first_page":"4","last_page":"12"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational 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/T11015","display_name":"Down syndrome and intellectual disability research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational 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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.00019999999494757503,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.00019999999494757503,"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/down-syndrome","display_name":"Down syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/diagnostic-accuracy","display_name":"diagnostic accuracy","score":0.9070000052452087},{"id":"https://openalex.org/keywords/karyology","display_name":"karyology","score":0.6740000247955322},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.5690000057220459},{"id":"https://openalex.org/keywords/epicanthic-folds","display_name":"epicanthic folds","score":0.7720000147819519},{"id":"https://openalex.org/keywords/simian-crease","display_name":"simian crease","score":0.8119999766349792},{"id":"https://openalex.org/keywords/age-at-diagnosis","display_name":"age at diagnosis","score":0.625},{"id":"https://openalex.org/keywords/northern-ireland","display_name":"Northern Ireland","score":0.6449999809265137}],"concepts":[{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.687587559223175},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6742492914199829},{"id":"https://openalex.org/C42558546","wikidata":"https://www.wikidata.org/wiki/Q7128693","display_name":"Palpebral fissure","level":2,"score":0.6606123447418213},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.6426149606704712},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5189023613929749},{"id":"https://openalex.org/C2779954681","wikidata":"https://www.wikidata.org/wiki/Q47715","display_name":"Down syndrome","level":2,"score":0.5013883113861084},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.4998009204864502},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.47345656156539917},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.4572159945964813},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.44715261459350586},{"id":"https://openalex.org/C167135981","wikidata":"https://www.wikidata.org/wiki/Q2146302","display_name":"Retrospective cohort study","level":2,"score":0.42007237672805786},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3114704489707947},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.22058960795402527},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.17158299684524536},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.16610556840896606},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.16115745902061462},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D004314","descriptor_name":"Down Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D004314","descriptor_name":"Down Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","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":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"pmh:oai:pubmedcentral.nih.gov:2475449","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2475449","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Ulster Med J","raw_type":"Text"},{"id":"pmid:15244118","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15244118","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":"The Ulster medical journal","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.274.9226","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.274.9226","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/c8/87/Ulster_Med_J_2004_May_73(1)_4-12.tar.gz","raw_type":"text"},{"id":"mag:1605970953","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15244118","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2475449","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2475449","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Ulster Med J","raw_type":"Text"},"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":5,"referenced_works":["https://openalex.org/W1973591786","https://openalex.org/W1996014567","https://openalex.org/W2007481882","https://openalex.org/W2036731227","https://openalex.org/W2060382295"],"related_works":["https://openalex.org/W7095536721","https://openalex.org/W62758072","https://openalex.org/W3127715713","https://openalex.org/W2898985907","https://openalex.org/W2136442731","https://openalex.org/W4249120353","https://openalex.org/W1591888094","https://openalex.org/W2900875680","https://openalex.org/W2406216014","https://openalex.org/W2311505693"],"abstract_inverted_index":{"OBJECTIVES:":[0],"To":[1],"determine":[2],"the":[3,50,59,118,192,226,343,361],"accuracy":[4],"of":[5,8,30,52,61,73,79,87,127,162,166,182,194,201,254,262,266,275,284,314,329,336,342,368],"clinical":[6,85,103,160,195,321],"diagnosis":[7,74,86,161,322,404],"Down":[9,31,62,88,128,163,169,186,203,263,369],"syndrome,":[10,170],"identify":[11,58,102],"problems":[12],"in":[13,49,250,303,317,324,371,410],"reaching":[14],"a":[15,24,42,46,84,159,251,260,308,312,366,403,417],"diagnosis,":[16],"to":[17,57,101,155,199,382],"provide":[18],"recommendations":[19],"for":[20,27,83,105,115],"improvement":[21],"and":[22,68,95,138,147,174,180,184,222,239,243,273,289,327,332,357,380,393],"estimate":[23],"minimum":[25,293],"prevalence":[26,294,313],"all":[28,112],"types":[29],"syndrome.":[32,164,264],"DESIGN:":[33],"A":[34],"retrospective":[35],"observational":[36],"study":[37],"was":[38,55,75,295],"carried":[39],"out":[40],"over":[41],"five-year":[43],"period.":[44],"Genesis,":[45],"database":[47],"located":[48],"Department":[51],"Medical":[53],"genetics,":[54],"used":[56,100],"number":[60],"syndrome":[63,89,129,187,204,370],"karyotypes":[64],"including":[65],"trisomy,":[66,134,330],"translocation,":[67,137,331],"mosaic":[69,141,202,333],"sample":[70],"variants.":[71,142],"Age":[72],"determined":[76],"using":[77],"date":[78],"receipt.":[80],"Karyotyping":[81],"requests":[82],"were":[90,99,130,145,153,172,189,268,287],"also":[91,248],"identified.":[92],"Patient":[93],"notes":[94],"cytogenetic":[96,113],"laboratory":[97],"reports":[98],"indication":[104],"karyotyping.":[106],"SETTING:":[107],"Regional":[108],"Genetics":[109],"Centre,":[110],"covering":[111],"analyses":[114],"referrals":[116],"within":[117],"entire":[119],"Northern":[120],"Ireland":[121],"population.":[122],"RESULTS:":[123],"208":[124],"postnatal":[125],"cases":[126,385],"identified,":[131],"197":[132],"(94.7%)":[133],"3":[135],"(1.45%)":[136],"8":[139],"(3.85%)":[140],"112":[143],"(54.8%)":[144],"male":[146],"96":[148],"(46.2%)":[149],"female.":[150],"268":[151],"samples":[152],"taken":[154],"confirm":[156],"or":[157,301,340],"exclude":[158],"185":[165],"these":[167],"had":[168,176,338],"77":[171],"normal,":[173],"6":[175],"another":[177],"abnormality.":[178],"90%":[179],"100%":[181],"trisomy":[183],"translocation":[185],"respectively":[188],"diagnosed":[190,207,269,280],"on":[191],"basis":[193],"features.":[196,399],"This":[197],"fell":[198],"37.5%":[200,328],"patients":[205,267,279,337],"being":[206],"clinically":[208],"(p":[209],"<":[210],"0.001).":[211],"Simian":[212,347],"crease,":[213,348],"sandal":[214,240,349],"gap,":[215,241,350],"epicanthic":[216,233,351],"folds,":[217,234,352],"hypotonia,":[218,242,353],"upslanting":[219,244,354],"palpebral":[220,245,355],"fissures,":[221,356],"protruding":[223,235,358],"tongue":[224],"are":[225,247,413],"most":[227],"frequent":[228],"characteristic":[229],"features":[230,364],"seen.":[231],"Similarly":[232],"tongue,":[236],"simian":[237],"crease":[238],"fissures":[246],"described":[249],"significant":[252],"proportion":[253],"karyotypically":[255],"normal":[256,374],"individuals,":[257],"thus":[258,376],"arousing":[259],"suspicion":[261,367],"89.4%":[265],"between":[270],"day":[271,282],"1":[272,302,316],"7":[274,283],"life.":[276],"Of":[277],"10.6%":[278],"after":[281],"life,":[285],"7.6%":[286],"adults":[288],"3%":[290],"children.":[291],"The":[292],"estimated":[296],"at":[297],"167.9":[298],"per":[299],"100,000,":[300],"595":[304],"births.":[305],"CONCLUSION:":[306],"In":[307],"defined":[309],"population,":[310],"with":[311,373],"around":[315],"600":[318],"births,":[319],"accurate":[320],"occurred":[323],"90%,":[325],"100%,":[326],"patients.":[334],"49.5%":[335],"one":[339],"more":[341,388],"following":[344],"phenotypic":[345],"findings:":[346],"tongue.":[359],"However,":[360],"same":[362],"six":[363],"aroused":[365],"individuals":[372],"karyotyping,":[375],"causing":[377],"undue":[378],"stress":[379],"worry":[381],"parents.":[383],"Mosaic":[384],"may":[386],"be":[387,408],"common":[389],"than":[390],"previously":[391],"recognised,":[392],"often":[394],"do":[395],"not":[396],"have":[397],"dysmorphic":[398],"It":[400],"is":[401],"therefore":[402],"that":[405],"should":[406],"always":[407],"considered":[409],"those":[411],"who":[412],"educationally":[414],"subnormal":[415],"without":[416],"definitive":[418],"diagnosis.":[419]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":8},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":8},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}