{"id":"https://openalex.org/W1981017572","doi":"https://doi.org/10.1159/000264193","title":"Associated Malformations and Chromosomal Defects in Congenital Diaphragmatic Hernia","display_name":"Associated Malformations and Chromosomal Defects in Congenital Diaphragmatic Hernia","publication_year":2009,"publication_date":"2009-11-27","ids":{"openalex":"https://openalex.org/W1981017572","doi":"https://doi.org/10.1159/000264193","mag":"1981017572","pmid":"https://pubmed.ncbi.nlm.nih.gov/7710680"},"language":"en","primary_location":{"id":"doi:10.1159/000264193","doi":"https://doi.org/10.1159/000264193","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000264193","pdf_url":null,"source":{"id":"https://openalex.org/S31793102","display_name":"Fetal Diagnosis and Therapy","issn_l":"1015-3837","issn":["1015-3837","1421-9964"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Fetal Diagnosis and Therapy","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5087319453","display_name":"Rainer Bollmann","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I39343248","display_name":"Humboldt-Universit\u00e4t zu Berlin","ror":"https://ror.org/01hcx6992","country_code":"DE","type":"education","lineage":["https://openalex.org/I39343248"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"R. Bollmann","raw_affiliation_strings":["Department of Prenatal Diagnosis and Therapy, Charit\u00e9 Hospital, Humboldt University, Berlin, Germany","Department of Prenatal Diagnosis and Therapy,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Prenatal Diagnosis and Therapy, Charit\u00e9 Hospital, Humboldt University, Berlin, Germany","institution_ids":["https://openalex.org/I39343248","https://openalex.org/I7877124"]},{"raw_affiliation_string":"Department of Prenatal Diagnosis and Therapy,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113036178","display_name":"Karim D. Kalache","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K. Kalache","raw_affiliation_strings":["Department of Prenatal Diagnosis and Therapy,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Prenatal Diagnosis and Therapy,","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"H. Mau","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H. Mau","raw_affiliation_strings":["Unit of Pediatric Surgery and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Pediatric Surgery and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110068213","display_name":"Rabija Chaoui","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R. Chaoui","raw_affiliation_strings":["Department of Prenatal Diagnosis and Therapy,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Prenatal Diagnosis and Therapy,","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5090905517","display_name":"C. Tennstedt","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I39343248","display_name":"Humboldt-Universit\u00e4t zu Berlin","ror":"https://ror.org/01hcx6992","country_code":"DE","type":"education","lineage":["https://openalex.org/I39343248"]},{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"C. Tennstedt","raw_affiliation_strings":["Department of Pathology, Charit\u00e9 Hospital, Humboldt University, Berlin, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Charit\u00e9 Hospital, Humboldt University, Berlin, Germany","institution_ids":["https://openalex.org/I39343248","https://openalex.org/I7877124"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":5.1782,"has_fulltext":false,"cited_by_count":101,"citation_normalized_percentile":{"value":0.94953327,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"10","issue":"1","first_page":"52","last_page":"59"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11586","display_name":"Congenital Diaphragmatic Hernia Studies","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T11586","display_name":"Congenital Diaphragmatic Hernia Studies","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T12716","display_name":"Congenital Anomalies and Fetal Surgery","score":0.0024999999441206455,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T10300","display_name":"Congenital Heart Disease Studies","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-diaphragmatic-hernia","display_name":"congenital diaphragmatic hernia","score":1.0},{"id":"https://openalex.org/keywords/associated-malformations","display_name":"associated malformations","score":0.9070000052452087},{"id":"https://openalex.org/keywords/chromosomal-abnormalities","display_name":"chromosomal abnormalities","score":0.968999981880188},{"id":"https://openalex.org/keywords/trisomy-18","display_name":"trisomy 18","score":0.9890000224113464},{"id":"https://openalex.org/keywords/prenatal-ultrasound-diagnosis","display_name":"prenatal ultrasound diagnosis","score":0.7260000109672546},{"id":"https://openalex.org/keywords/fetal-survival","display_name":"fetal survival","score":0.6620000004768372},{"id":"https://openalex.org/keywords/cytogenetic-analysis","display_name":"cytogenetic analysis","score":0.7730000019073486}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8865535259246826},{"id":"https://openalex.org/C2777146472","wikidata":"https://www.wikidata.org/wiki/Q2163245","display_name":"Congenital diaphragmatic hernia","level":4,"score":0.8288537263870239},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.6979889869689941},{"id":"https://openalex.org/C2777943237","wikidata":"https://www.wikidata.org/wiki/Q2119430","display_name":"Diaphragmatic hernia","level":3,"score":0.6548975110054016},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.5964524149894714},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.5258998274803162},{"id":"https://openalex.org/C133507102","wikidata":"https://www.wikidata.org/wiki/Q4712977","display_name":"Genitourinary system","level":2,"score":0.4761866629123688},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.4231821596622467},{"id":"https://openalex.org/C2779954681","wikidata":"https://www.wikidata.org/wiki/Q47715","display_name":"Down syndrome","level":2,"score":0.4141901433467865},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.3832508325576782},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.379050612449646},{"id":"https://openalex.org/C2779096551","wikidata":"https://www.wikidata.org/wiki/Q133076","display_name":"Hernia","level":2,"score":0.32854247093200684},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.2570885419845581},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.24218550324440002},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.1877729892730713},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000401","qualifier_name":"mortality","is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":"Q000401","qualifier_name":"mortality","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006548","descriptor_name":"Hernia, Diaphragmatic","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D006548","descriptor_name":"Hernia, Diaphragmatic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006548","descriptor_name":"Hernia, Diaphragmatic","qualifier_ui":"Q000401","qualifier_name":"mortality","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","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":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","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":"D015996","descriptor_name":"Survival Rate","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016216","descriptor_name":"Ultrasonography, Prenatal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D065630","descriptor_name":"Hernias, Diaphragmatic, Congenital","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1159/000264193","doi":"https://doi.org/10.1159/000264193","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000264193","pdf_url":null,"source":{"id":"https://openalex.org/S31793102","display_name":"Fetal Diagnosis and Therapy","issn_l":"1015-3837","issn":["1015-3837","1421-9964"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Fetal Diagnosis and Therapy","raw_type":"journal-article"},{"id":"pmid:7710680","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7710680","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":"Fetal diagnosis and therapy","raw_type":"Journal Article"}],"best_oa_location":null,"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":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2078067239","https://openalex.org/W2317298934","https://openalex.org/W2079829377","https://openalex.org/W2588625127","https://openalex.org/W2099204177","https://openalex.org/W2017372483","https://openalex.org/W137918631","https://openalex.org/W1980488349","https://openalex.org/W2308507961","https://openalex.org/W2016860874"],"abstract_inverted_index":{"In":[0,49,83,123],"order":[1],"to":[2,59,125,163,181],"determine":[3],"the":[4,24,32,50,87,107,131,179],"frequency":[5],"of":[6,67,86,104,130,142,151],"associated":[7,138,156],"malformations":[8,99,139,195],"and":[9,111,140,155,191],"chromosomal":[10,118,199],"defects":[11,200],"in":[12,161,204],"patients":[13],"with":[14,21,39,89,153,165],"congenital":[15],"diaphragmatic":[16],"hernia":[17],"(CDH)":[18],"our":[19,44,60],"experiences":[20],"CDH":[22,40,77,90,154,168,176],"during":[23,78],"last":[25],"8":[26],"years":[27],"(1985-1993)":[28],"were":[29,41,57],"reviewed.":[30],"During":[31],"study":[33],"period,":[34],"33":[35],"fetuses":[36,116,152],"(prenatal":[37],"group)":[38,56],"examined":[42],"at":[43,93],"level":[45,80],"III":[46],"ultrasound":[47,171,189],"department.":[48],"same":[51],"period":[52],"11":[53,132],"neonates":[54],"(postnatal":[55],"admitted":[58],"pediatric":[61],"surgical":[62],"unit":[63],"after":[64],"postnatal":[65],"diagnosis":[66],"a":[68,145],"CDH.":[69],"Those":[70],"cases":[71,88],"had":[72,117,137,144],"not":[73],"been":[74],"suspicious":[75],"for":[76,175],"prenatal":[79],"I":[81],"scan.":[82],"24":[84],"(72.7%)":[85],"seen":[91,135],"prenatally,":[92],"least":[94],"one":[95],"or":[96],"more":[97],"extradiaphragmatic":[98],"could":[100],"be":[101],"detected.":[102],"Most":[103],"them":[105,143],"affected":[106,205],"cardiovascular,":[108],"skeletal,":[109],"genitourinary":[110],"nervous":[112],"system.":[113],"Six":[114],"(18.1%)":[115],"abnormalities,":[119],"especially":[120],"trisomy":[121],"18.":[122],"contrast":[124,162],"these":[126],"findings":[127],"just":[128],"4":[129],"babies":[133],"(36.3%)":[134],"postnatally":[136],"all":[141],"normal":[146],"chromosome":[147],"set.":[148],"Survival":[149],"rate":[150],"anomalies":[157],"(7.1%)":[158],"was":[159],"poor,":[160],"those":[164],"an":[166],"isolated":[167],"(43.7%).":[169],"Prenatal":[170],"investigations":[172],"being":[173],"suspect":[174],"should":[177],"encourage":[178],"clinician":[180],"make":[182],"further":[183],"diagnostical":[184],"efforts.":[185],"This":[186],"includes":[187],"detailed":[188],"examination":[190],"cytogenetic":[192],"analysis.":[193],"Associated":[194],"as":[196,198],"well":[197],"are":[201],"often":[202],"present":[203],"patients.":[206]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":6}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}