{"id":"https://openalex.org/W1928081963","doi":"https://doi.org/10.1111/j.1741-4520.2011.00325.x","title":"Prenatal diagnosis of a fetus with anencephaly and thumb agenesis","display_name":"Prenatal diagnosis of a fetus with anencephaly and thumb agenesis","publication_year":2011,"publication_date":"2011-06-16","ids":{"openalex":"https://openalex.org/W1928081963","doi":"https://doi.org/10.1111/j.1741-4520.2011.00325.x","mag":"1928081963","pmid":"https://pubmed.ncbi.nlm.nih.gov/22348786"},"language":"en","primary_location":{"id":"doi:10.1111/j.1741-4520.2011.00325.x","doi":"https://doi.org/10.1111/j.1741-4520.2011.00325.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1741-4520.2011.00325.x","pdf_url":null,"source":{"id":"https://openalex.org/S82432819","display_name":"Congenital Anomalies","issn_l":"0914-3505","issn":["0914-3505","1741-4520","1741-5420"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","medline","poland-40"],"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":"Congenital Anomalies","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/A5049557832","display_name":"Chiara Barone","orcid":"https://orcid.org/0009-0003-8029-6509","observed_orcids":["https://orcid.org/0009-0003-8029-6509"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chiara Barone","raw_affiliation_strings":["Center for Genetic Counseling and Reproductive Teratology, Catania, Italy","Center for Genetic Counseling and Reproductive Teratology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetic Counseling and Reproductive Teratology, Catania, Italy","institution_ids":[]},{"raw_affiliation_string":"Center for Genetic Counseling and Reproductive Teratology","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077480602","display_name":"Giovanni Bartoloni","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Giovanni Bartoloni","raw_affiliation_strings":["Congenital anomalies and perinatal pathology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Congenital anomalies and perinatal pathology","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Antonella Cataliotti","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Antonella Cataliotti","raw_affiliation_strings":["Center for Genetic Counseling and Reproductive Teratology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetic Counseling and Reproductive Teratology","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032549380","display_name":"Lara Indaco","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lara Indaco","raw_affiliation_strings":["Center for Genetic Counseling and Reproductive Teratology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetic Counseling and Reproductive Teratology","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079954720","display_name":"Elisa Pappalardo","orcid":"https://orcid.org/0000-0001-6881-9176","observed_orcids":["https://orcid.org/0000-0001-6881-9176"]},"institutions":[{"id":"https://openalex.org/I4210105999","display_name":"Ospedale Garibaldi","ror":"https://ror.org/01q6hrg49","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210105999"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Elisa Pappalardo","raw_affiliation_strings":["Gynecology and Obstetric Unitv Maternal and Child Health Department, Garibaldi Nesima Hospital, Catania, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gynecology and Obstetric Unitv Maternal and Child Health Department, Garibaldi Nesima Hospital, Catania, Italy","institution_ids":["https://openalex.org/I4210105999"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015416313","display_name":"Barbara Barrano","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Barbara Barrano","raw_affiliation_strings":["Center for Genetic Counseling and Reproductive Teratology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetic Counseling and Reproductive Teratology","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041055430","display_name":"Giuseppe Ettore","orcid":"https://orcid.org/0000-0002-5765-7682","observed_orcids":["https://orcid.org/0000-0002-5765-7682"]},"institutions":[{"id":"https://openalex.org/I4210105999","display_name":"Ospedale Garibaldi","ror":"https://ror.org/01q6hrg49","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210105999"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giuseppe Ettore","raw_affiliation_strings":["Gynecology and Obstetric Unitv Maternal and Child Health Department, Garibaldi Nesima Hospital, Catania, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gynecology and Obstetric Unitv Maternal and Child Health Department, Garibaldi Nesima Hospital, Catania, Italy","institution_ids":["https://openalex.org/I4210105999"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5000674412","display_name":"Sebastiano Bianca","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Sebastiano Bianca","raw_affiliation_strings":["Center for Genetic Counseling and Reproductive Teratology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetic Counseling and Reproductive Teratology","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5000674412"],"corresponding_institution_ids":[],"apc_list":{"value":2830,"currency":"USD","value_usd":2830},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.14694229,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"52","issue":"1","first_page":"64","last_page":"65"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.39399999380111694,"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.39399999380111694,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.28029999136924744,"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.24570000171661377,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"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/anencephaly","display_name":"anencephaly","score":0.9829999804496765},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.7910000085830688},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.8389999866485596}],"concepts":[{"id":"https://openalex.org/C2776394550","wikidata":"https://www.wikidata.org/wiki/Q529292","display_name":"Anencephaly","level":4,"score":0.8805302381515503},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6688793897628784},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.6372785568237305},{"id":"https://openalex.org/C2777943302","wikidata":"https://www.wikidata.org/wiki/Q392604","display_name":"Agenesis","level":2,"score":0.6074410080909729},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.6011351346969604},{"id":"https://openalex.org/C2776881184","wikidata":"https://www.wikidata.org/wiki/Q83360","display_name":"Thumb","level":2,"score":0.5728273391723633},{"id":"https://openalex.org/C2779715522","wikidata":"https://www.wikidata.org/wiki/Q507027","display_name":"Forebrain","level":3,"score":0.41957294940948486},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.41185176372528076},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.2774119973182678},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1453176736831665},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1222589910030365},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.10179772973060608},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.08385694026947021}],"mesh":[{"descriptor_ui":"D000757","descriptor_name":"Anencephaly","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005817","descriptor_name":"Genetic Counseling","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":"D009436","descriptor_name":"Neural Tube Defects","qualifier_ui":"Q000175","qualifier_name":"diagnosis","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":"D013933","descriptor_name":"Thumb","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D016548","descriptor_name":"Prosencephalon","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1111/j.1741-4520.2011.00325.x","doi":"https://doi.org/10.1111/j.1741-4520.2011.00325.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1741-4520.2011.00325.x","pdf_url":null,"source":{"id":"https://openalex.org/S82432819","display_name":"Congenital Anomalies","issn_l":"0914-3505","issn":["0914-3505","1741-4520","1741-5420"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","medline","poland-40"],"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":"Congenital Anomalies","raw_type":"journal-article"},{"id":"pmid:22348786","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22348786","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":"Congenital anomalies","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W1971135131","https://openalex.org/W1972261001","https://openalex.org/W1987751422","https://openalex.org/W2017171000","https://openalex.org/W2019402927","https://openalex.org/W2034039204","https://openalex.org/W2059810742","https://openalex.org/W2070891586","https://openalex.org/W2143317087","https://openalex.org/W4253736694"],"related_works":["https://openalex.org/W2604159857","https://openalex.org/W2016397691","https://openalex.org/W2520072901","https://openalex.org/W2410045927","https://openalex.org/W2054524136","https://openalex.org/W1729407416","https://openalex.org/W2403425138","https://openalex.org/W3000926012","https://openalex.org/W2002898099","https://openalex.org/W2407546846"],"abstract_inverted_index":{"Severe":[0],"anomalies":[1,9,14],"of":[2,21,36],"the":[3,34],"forebrain":[4],"together":[5],"with":[6],"reduction":[7],"limb":[8],"are":[10],"a":[11,18,28],"rare":[12],"congenital":[13],"association.":[15],"We":[16],"report":[17],"prenatal":[19],"diagnosis":[20],"acalvaria,":[22],"anencephaly":[23],"and":[24,32],"thumb":[25],"agenesis":[26],"in":[27],"voluntary":[29],"terminated":[30],"fetus":[31],"discuss":[33],"role":[35],"genetic":[37],"counseling.":[38]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}