{"id":"https://openalex.org/W7220897116","doi":"https://doi.org/10.3892/etm.2026.13331","title":"Prenatal diagnosis of CHARGE syndrome in a fetus with a novel CHD7 splicing mutation: A case report","display_name":"Prenatal diagnosis of CHARGE syndrome in a fetus with a novel CHD7 splicing mutation: A case report","publication_year":2026,"publication_date":"2026-10-08","ids":{"openalex":"https://openalex.org/W7220897116","doi":"https://doi.org/10.3892/etm.2026.13331","pmid":"https://pubmed.ncbi.nlm.nih.gov/42948634","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13712107"},"language":"en","primary_location":{"id":"doi:10.3892/etm.2026.13331","doi":"https://doi.org/10.3892/etm.2026.13331","is_oa":true,"landing_page_url":"https://doi.org/10.3892/etm.2026.13331","pdf_url":"http://www.spandidos-publications.com/10.3892/etm.2026.13331/download","source":{"id":"https://openalex.org/S151424340","display_name":"Experimental and Therapeutic Medicine","issn_l":"1792-0981","issn":["1792-0981","1792-1015"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","jufo-1","poland-40","vabb-shw"],"host_organization":"https://openalex.org/P4310320412","host_organization_name":"Spandidos Publishing","host_organization_lineage":["https://openalex.org/P4310320412"],"host_organization_lineage_names":["Spandidos Publishing"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Experimental and Therapeutic Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"http://www.spandidos-publications.com/10.3892/etm.2026.13331/download","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5083336329","display_name":"Elena Papageorgiou","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elena Papageorgiou","raw_affiliation_strings":["1Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093863690","display_name":"Christina Keramida","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Christina Keramida","raw_affiliation_strings":["Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003921303","display_name":"Elissavet Siomou","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elissavet Siomou","raw_affiliation_strings":["Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5157902196","display_name":"Chrisoula Eustathiadou","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chrisoula Eustathiadou","raw_affiliation_strings":["Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5157938884","display_name":"Michail Rotas","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michail Rotas","raw_affiliation_strings":["Department of Ultrasound and Fetal Medicine, REA Maternity Hospital, 17564 Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ultrasound and Fetal Medicine, REA Maternity Hospital, 17564 Athens, Greece","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014329701","display_name":"C. Chlapoutaki","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chrysanthi Chlapoutaki","raw_affiliation_strings":["Department of Diagnostic and Interventional Radiology, IASO Maternity Hospital, 15123 Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Diagnostic and Interventional Radiology, IASO Maternity Hospital, 15123 Athens, Greece","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067943439","display_name":"Sotirios Sotiriou","orcid":"https://orcid.org/0000-0002-9466-6086","observed_orcids":["https://orcid.org/0000-0002-9466-6086"]},"institutions":[{"id":"https://openalex.org/I145722265","display_name":"University of Thessaly","ror":"https://ror.org/04v4g9h31","country_code":"GR","type":"education","lineage":["https://openalex.org/I145722265"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Sotirios Sotiriou","raw_affiliation_strings":["Department of Embryology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Embryology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece","institution_ids":["https://openalex.org/I145722265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064641046","display_name":"Georgios-Konstantinos Papaioannou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210140282","display_name":"University General Hospital Attikon","ror":"https://ror.org/03gb7n667","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210140282"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Georgios-Konstantinos Papaioannou","raw_affiliation_strings":["Third Department of Obstetrics and Gynecology, General University Hospital \u2018Attikon\u2019, 12462 Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Third Department of Obstetrics and Gynecology, General University Hospital \u2018Attikon\u2019, 12462 Athens, Greece","institution_ids":["https://openalex.org/I4210140282"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082210998","display_name":"Marios Mamalis","orcid":"https://orcid.org/0000-0002-1995-7369","observed_orcids":["https://orcid.org/0000-0002-1995-7369"]},"institutions":[{"id":"https://openalex.org/I268975460","display_name":"Universit\u00e4tsklinikum Gie\u00dfen und Marburg","ror":"https://ror.org/032nzv584","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I268975460"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Marios Mamalis","raw_affiliation_strings":["Department of Obstetrics and Gynecology, Division of Prenatal Medicine, University Hospital of Giessen and Marburg, Campus Giessen, D\u201135385 Giessen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Division of Prenatal Medicine, University Hospital of Giessen and Marburg, Campus Giessen, D\u201135385 Giessen, Germany","institution_ids":["https://openalex.org/I268975460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042393609","display_name":"Sandro Orr\u00f9","orcid":"https://orcid.org/0000-0001-5085-7975","observed_orcids":["https://orcid.org/0000-0001-5085-7975"]},"institutions":[{"id":"https://openalex.org/I172446870","display_name":"University of Cagliari","ror":"https://ror.org/003109y17","country_code":"IT","type":"education","lineage":["https://openalex.org/I172446870"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Sandro Orru","raw_affiliation_strings":["Department of Medical Genetics, University of Cagliari, Binaghi Hospital, I-09126 Cagliari, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University of Cagliari, Binaghi Hospital, I-09126 Cagliari, Italy","institution_ids":["https://openalex.org/I172446870"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108874358","display_name":"Emmanouil Manolakos","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Emmanouil Manolakos","raw_affiliation_strings":["Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5004549430","display_name":"Ioannis Papoulidis","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ioannis Papoulidis","raw_affiliation_strings":["Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5093863690"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.76832083,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"32","issue":"6","first_page":"1","last_page":"7"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.9848999977111816,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.9848999977111816,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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":0.007400000002235174,"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.005799999926239252,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/charge-syndrome","display_name":"CHARGE syndrome","score":1.0},{"id":"https://openalex.org/keywords/chd7","display_name":"CHD7","score":0.9010000228881836},{"id":"https://openalex.org/keywords/splicing-mutation","display_name":"splicing mutation","score":0.9549999833106995},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.8539999723434448},{"id":"https://openalex.org/keywords/persistent-left-superior-vena-cava","display_name":"persistent left superior vena cava","score":0.9449999928474426},{"id":"https://openalex.org/keywords/cerebellar-vermis-hypoplasia","display_name":"cerebellar vermis hypoplasia","score":0.8289999961853027},{"id":"https://openalex.org/keywords/mega-cisterna-magna","display_name":"mega cisterna magna","score":0.8560000061988831},{"id":"https://openalex.org/keywords/prenatal-ultrasound-findings","display_name":"prenatal ultrasound findings","score":0.6549999713897705},{"id":"https://openalex.org/keywords/fetal-mri","display_name":"fetal MRI","score":0.8659999966621399},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.7950000166893005},{"id":"https://openalex.org/keywords/abortion","display_name":"abortion","score":0.7919999957084656},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.7250000238418579},{"id":"https://openalex.org/keywords/fetal-exome-sequencing","display_name":"fetal exome sequencing","score":0.8889999985694885}],"concepts":[{"id":"https://openalex.org/C2781095467","wikidata":"https://www.wikidata.org/wiki/Q1023604","display_name":"CHARGE syndrome","level":2,"score":0.8396000266075134},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.76419997215271},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.6859999895095825},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.6624000072479248},{"id":"https://openalex.org/C2781018059","wikidata":"https://www.wikidata.org/wiki/Q207609","display_name":"Oncogene","level":4,"score":0.5782999992370605},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5095000267028809},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4465000033378601},{"id":"https://openalex.org/C29537977","wikidata":"https://www.wikidata.org/wiki/Q188941","display_name":"Cell cycle","level":3,"score":0.44600000977516174},{"id":"https://openalex.org/C67082663","wikidata":"https://www.wikidata.org/wiki/Q3523816","display_name":"Molecular medicine","level":4,"score":0.4207000136375427},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.4154999852180481},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.40450000762939453},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3725000023841858},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3691999912261963},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.34380000829696655},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.31470000743865967},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.3138999938964844},{"id":"https://openalex.org/C188082385","wikidata":"https://www.wikidata.org/wiki/Q73792","display_name":"Charge (physics)","level":2,"score":0.31279999017715454},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.29260000586509705},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.28859999775886536},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.2558000087738037},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.25540000200271606}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.3892/etm.2026.13331","doi":"https://doi.org/10.3892/etm.2026.13331","is_oa":true,"landing_page_url":"https://doi.org/10.3892/etm.2026.13331","pdf_url":"http://www.spandidos-publications.com/10.3892/etm.2026.13331/download","source":{"id":"https://openalex.org/S151424340","display_name":"Experimental and Therapeutic Medicine","issn_l":"1792-0981","issn":["1792-0981","1792-1015"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","jufo-1","poland-40","vabb-shw"],"host_organization":"https://openalex.org/P4310320412","host_organization_name":"Spandidos Publishing","host_organization_lineage":["https://openalex.org/P4310320412"],"host_organization_lineage_names":["Spandidos Publishing"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Experimental and Therapeutic Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13712107","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13712107/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13712107/pdf/etm-32-06-13331.pdf","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Exp Ther Med","raw_type":"Text"},{"id":"pmid:42948634","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42948634","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":"Experimental and therapeutic medicine","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.3892/etm.2026.13331","doi":"https://doi.org/10.3892/etm.2026.13331","is_oa":true,"landing_page_url":"https://doi.org/10.3892/etm.2026.13331","pdf_url":"http://www.spandidos-publications.com/10.3892/etm.2026.13331/download","source":{"id":"https://openalex.org/S151424340","display_name":"Experimental and Therapeutic Medicine","issn_l":"1792-0981","issn":["1792-0981","1792-1015"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","jufo-1","poland-40","vabb-shw"],"host_organization":"https://openalex.org/P4310320412","host_organization_name":"Spandidos Publishing","host_organization_lineage":["https://openalex.org/P4310320412"],"host_organization_lineage_names":["Spandidos Publishing"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Experimental and Therapeutic Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9789000153541565,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7220897116.pdf","grobid_xml":"https://content.openalex.org/works/W7220897116.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1482658567","https://openalex.org/W3134334117","https://openalex.org/W4379377148","https://openalex.org/W2810450583","https://openalex.org/W2964613032","https://openalex.org/W2033488928","https://openalex.org/W3114194620","https://openalex.org/W2285345476","https://openalex.org/W2156744187","https://openalex.org/W2972698052"],"abstract_inverted_index":{"CHARGE":[0,33,187,192],"syndrome":[1,34,193],"is":[2,171,194],"a":[3,9,54,57,119,184,202],"rare":[4],"genetic,":[5],"multisystem":[6],"disorder":[7],"with":[8,14,56,186],"number":[10],"of":[11,21,32,53,59,73,91,107,115,131,137,157,167,176,191],"malformations":[12],"associated":[13],"coloboma,":[15],"heart":[16],"defects,":[17],"choanal":[18],"atresia,":[19],"retardation":[20],"growth":[22],"and/or":[23],"development,":[24],"genitourinary":[25],"malformation":[26],"and":[27,80,134,162,179],"ear":[28],"abnormalities.The":[29],"primary":[30],"causes":[31],"are":[35],"mutations":[36],"in":[37,70,97,183,209],"the":[38,47,51,71,74,89,92,108,116,124,129,135,138,143,155,158,165,172,196],"chromodomain":[39],"helicase":[40],"DNA":[41],"binding":[42],"protein":[43],"7":[44],"(CHD7)":[45],"gene.Therefore,":[46],"present":[48,152,197],"report":[49,153,198],"outlines":[50],"case":[52,175],"fetus":[55,185],"variety":[58],"ultrasound":[60],"findings,":[61],"including":[62],"persistent":[63,177],"left":[64],"superior":[65],"vena":[66],"cava":[67],"(LSVC),":[68],"delay":[69],"fusion":[72],"cerebellar":[75],"vermis,":[76],"inferior":[77],"vermis":[78],"hypoplasia":[79],"borderline":[81,180],"mega":[82],"cisterna":[83],"magna":[84],"(MCM).Fetal":[85],"exome":[86],"sequencing":[87],"revealed":[88],"presence":[90],"novel":[93],"c.2836-3C>G":[94],"splicing":[95],"mutation":[96],"CHD7,":[98],"which":[99],"was":[100],"classified":[101],"to":[102,123],"be":[103],"likely":[104,140],"pathogenic.Genetic":[105],"testing":[106],"parents":[109],"showed":[110],"that":[111],"neither":[112],"were":[113],"carriers":[114],"mutation,":[117,142],"suggesting":[118],"de":[120],"novo":[121],"origin.Due":[122],"poor":[125],"prognosis":[126],"resulting":[127],"from":[128],"combination":[130],"clinical":[132],"findings":[133,208],"identification":[136],"novel,":[139],"pathogenic":[141],"couple":[144],"opted":[145],"for":[146,205],"pregnancy":[147],"termination":[148],"following":[149],"genetic":[150],"counseling.The":[151],"includes":[154],"description":[156],"fetal":[159],"sonographic":[160],"features":[161],"MRI":[163],"findings.To":[164],"best":[166],"our":[168],"knowledge,":[169],"this":[170],"first":[173],"documented":[174],"LSVC":[178],"MCM":[181],"observed":[182],"syndrome.Since":[188],"prenatal":[189,211],"diagnosis":[190],"rare,":[195],"may":[199],"serve":[200],"as":[201],"valuable":[203],"reference":[204],"evaluating":[206],"similar":[207],"other":[210],"cases.":[212]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2026-10-09T00:00:00"}