{"id":"https://openalex.org/W2592616419","doi":"https://doi.org/10.2174/1566524017666170303125529","title":"Copy Number Variations with Isolated Fetal Ventriculomegaly","display_name":"Copy Number Variations with Isolated Fetal Ventriculomegaly","publication_year":2017,"publication_date":"2017-03-06","ids":{"openalex":"https://openalex.org/W2592616419","doi":"https://doi.org/10.2174/1566524017666170303125529","mag":"2592616419","pmid":"https://pubmed.ncbi.nlm.nih.gov/28260505"},"language":"en","primary_location":{"id":"doi:10.2174/1566524017666170303125529","doi":"https://doi.org/10.2174/1566524017666170303125529","is_oa":false,"landing_page_url":"https://doi.org/10.2174/1566524017666170303125529","pdf_url":null,"source":{"id":"https://openalex.org/S50220609","display_name":"Current Molecular Medicine","issn_l":"1566-5240","issn":["1566-5240","1875-5666"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320079","host_organization_name":"Bentham Science Publishers","host_organization_lineage":["https://openalex.org/P4310320079"],"host_organization_lineage_names":["Bentham Science Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Current Molecular Medicine","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/A5028863414","display_name":"Ping Hu","orcid":"https://orcid.org/0000-0002-7297-8847","observed_orcids":["https://orcid.org/0000-0002-7297-8847"]},"institutions":[{"id":"https://openalex.org/I4391767661","display_name":"State Key Laboratory of Reproductive Medicine","ror":"https://ror.org/00cagf561","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4391767661","https://openalex.org/I83519826"]},{"id":"https://openalex.org/I83519826","display_name":"Nanjing Medical University","ror":"https://ror.org/059gcgy73","country_code":"CN","type":"education","lineage":["https://openalex.org/I83519826"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"P. Hu","raw_affiliation_strings":["State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029. China","institution_ids":["https://openalex.org/I4391767661","https://openalex.org/I83519826"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Y. Wang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4391767661","display_name":"State Key Laboratory of Reproductive Medicine","ror":"https://ror.org/00cagf561","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4391767661","https://openalex.org/I83519826"]},{"id":"https://openalex.org/I83519826","display_name":"Nanjing Medical University","ror":"https://ror.org/059gcgy73","country_code":"CN","type":"education","lineage":["https://openalex.org/I83519826"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Y. Wang","raw_affiliation_strings":["State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029. China","institution_ids":["https://openalex.org/I4391767661","https://openalex.org/I83519826"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040834904","display_name":"Rong-chao Sun","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210152119","display_name":"Jiangsu Province Hospital","ror":"https://ror.org/04py1g812","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210152119"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"R. Sun","raw_affiliation_strings":["Department of Laboratory Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing. China","institution_ids":["https://openalex.org/I4210152119"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101449822","display_name":"Li Cao","orcid":"https://orcid.org/0000-0003-3391-0513","observed_orcids":["https://orcid.org/0000-0003-3391-0513"]},"institutions":[{"id":"https://openalex.org/I83519826","display_name":"Nanjing Medical University","ror":"https://ror.org/059gcgy73","country_code":"CN","type":"education","lineage":["https://openalex.org/I83519826"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"L. Cao","raw_affiliation_strings":["Department of Ultrasound, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ultrasound, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029. China","institution_ids":["https://openalex.org/I83519826"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009886211","display_name":"Xiameng Chen","orcid":"https://orcid.org/0000-0003-4393-9053","observed_orcids":["https://orcid.org/0000-0003-4393-9053","https://orcid.org/0009-0004-5629-1318","https://orcid.org/0000-0002-0530-3647"]},"institutions":[{"id":"https://openalex.org/I24185976","display_name":"Sichuan University","ror":"https://ror.org/011ashp19","country_code":"CN","type":"education","lineage":["https://openalex.org/I24185976"]},{"id":"https://openalex.org/I4210089228","display_name":"West China Second University Hospital of Sichuan University","ror":"https://ror.org/00726et14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210089228"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"X. Chen","raw_affiliation_strings":["Department of Gynecology and Obstetrics, West China Second Hospital, Sichuan University, 20 Renminnan Road, Chengdu, Sichuan 610041. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gynecology and Obstetrics, West China Second Hospital, Sichuan University, 20 Renminnan Road, Chengdu, Sichuan 610041. China","institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100755095","display_name":"Chao Liu","orcid":"https://orcid.org/0000-0002-7263-5289","observed_orcids":["https://orcid.org/0000-0002-7263-5289"]},"institutions":[{"id":"https://openalex.org/I4391767661","display_name":"State Key Laboratory of Reproductive Medicine","ror":"https://ror.org/00cagf561","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4391767661","https://openalex.org/I83519826"]},{"id":"https://openalex.org/I83519826","display_name":"Nanjing Medical University","ror":"https://ror.org/059gcgy73","country_code":"CN","type":"education","lineage":["https://openalex.org/I83519826"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"C. Liu","raw_affiliation_strings":["State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029. China","institution_ids":["https://openalex.org/I4391767661","https://openalex.org/I83519826"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033498671","display_name":"Chan Luo","orcid":"https://orcid.org/0000-0003-2030-5955","observed_orcids":["https://orcid.org/0000-0003-2030-5955"]},"institutions":[{"id":"https://openalex.org/I4391767661","display_name":"State Key Laboratory of Reproductive Medicine","ror":"https://ror.org/00cagf561","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4391767661","https://openalex.org/I83519826"]},{"id":"https://openalex.org/I83519826","display_name":"Nanjing Medical University","ror":"https://ror.org/059gcgy73","country_code":"CN","type":"education","lineage":["https://openalex.org/I83519826"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"C. Luo","raw_affiliation_strings":["State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029. China","institution_ids":["https://openalex.org/I4391767661","https://openalex.org/I83519826"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103085921","display_name":"MA De-ting","orcid":"https://orcid.org/0000-0002-5615-5007","observed_orcids":["https://orcid.org/0000-0002-5615-5007"]},"institutions":[{"id":"https://openalex.org/I4391767661","display_name":"State Key Laboratory of Reproductive Medicine","ror":"https://ror.org/00cagf561","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4391767661","https://openalex.org/I83519826"]},{"id":"https://openalex.org/I83519826","display_name":"Nanjing Medical University","ror":"https://ror.org/059gcgy73","country_code":"CN","type":"education","lineage":["https://openalex.org/I83519826"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"D. Ma","raw_affiliation_strings":["State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210029. China","institution_ids":["https://openalex.org/I4391767661","https://openalex.org/I83519826"]}]},{"author_position":"middle","author":{"id":null,"display_name":"W. Wang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"W. Wang","raw_affiliation_strings":["Institute for Genomic Medicine and Shiley Eye Institute, University of California San Diego, La Jolla, CA 92093. United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Genomic Medicine and Shiley Eye Institute, University of California San Diego, La Jolla, CA 92093. United States","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114949071","display_name":"Xin Fu","orcid":"https://orcid.org/0000-0001-7958-8684","observed_orcids":["https://orcid.org/0000-0001-7958-8684"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"X. Fu","raw_affiliation_strings":["Institute for Genomic Medicine and Shiley Eye Institute, University of California San Diego, La Jolla, CA 92093. United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Genomic Medicine and Shiley Eye Institute, University of California San Diego, La Jolla, CA 92093. United States","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":null,"display_name":"W. Shi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"W. Shi","raw_affiliation_strings":["Institute for Genomic Medicine and Shiley Eye Institute, University of California San Diego, La Jolla, CA 92093. United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Genomic Medicine and Shiley Eye Institute, University of California San Diego, La Jolla, CA 92093. United States","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109186409","display_name":"S.H. Yi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S. Yi","raw_affiliation_strings":["Institute for Genomic Medicine and Shiley Eye Institute, University of California San Diego, La Jolla, CA 92093. United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Genomic Medicine and Shiley Eye Institute, University of California San Diego, La Jolla, CA 92093. United States","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053470238","display_name":"K Zhang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"K. Zhang","raw_affiliation_strings":["Institute for Genomic Medicine, University of California San Diego, La Jolla, California 92093. United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Genomic Medicine, University of California San Diego, La Jolla, California 92093. United States","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045275213","display_name":"Hailiang Liu","orcid":"https://orcid.org/0000-0002-4364-2826","observed_orcids":["https://orcid.org/0000-0002-4364-2826"]},"institutions":[{"id":"https://openalex.org/I24185976","display_name":"Sichuan University","ror":"https://ror.org/011ashp19","country_code":"CN","type":"education","lineage":["https://openalex.org/I24185976"]},{"id":"https://openalex.org/I4210089228","display_name":"West China Second University Hospital of Sichuan University","ror":"https://ror.org/00726et14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210089228"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"H. Liu","raw_affiliation_strings":["Department of Gynecology and Obstetrics, West China Second Hospital, Sichuan University, Chengdu, Sichuan. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gynecology and Obstetrics, West China Second Hospital, Sichuan University, Chengdu, Sichuan. China","institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5088348596","display_name":"Zhengfeng Xu","orcid":"https://orcid.org/0000-0002-7824-7578","observed_orcids":["https://orcid.org/0000-0002-7824-7578"]},"institutions":[{"id":"https://openalex.org/I4391767661","display_name":"State Key Laboratory of Reproductive Medicine","ror":"https://ror.org/00cagf561","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4391767661","https://openalex.org/I83519826"]},{"id":"https://openalex.org/I83519826","display_name":"Nanjing Medical University","ror":"https://ror.org/059gcgy73","country_code":"CN","type":"education","lineage":["https://openalex.org/I83519826"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Z. Xu","raw_affiliation_strings":["State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing. China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing. China","institution_ids":["https://openalex.org/I4391767661","https://openalex.org/I83519826"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5045275213","https://openalex.org/A5053470238","https://openalex.org/A5088348596"],"corresponding_institution_ids":["https://openalex.org/I24185976","https://openalex.org/I36258959","https://openalex.org/I4210089228","https://openalex.org/I4391767661","https://openalex.org/I83519826"],"apc_list":null,"apc_paid":null,"fwci":2.9842,"has_fulltext":false,"cited_by_count":28,"citation_normalized_percentile":{"value":0.89798675,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"17","issue":"2","first_page":"133","last_page":"139"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.8920999765396118,"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":0.8920999765396118,"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":0.10050000250339508,"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"}},{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.002400000113993883,"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/copy-number-variation","display_name":"copy number variation","score":0.9399999976158142},{"id":"https://openalex.org/keywords/fetal-ventriculomegaly","display_name":"fetal ventriculomegaly","score":0.9139999747276306},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.9620000123977661},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.9599999785423279},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":1.0},{"id":"https://openalex.org/keywords/neurodevelopmental-delay","display_name":"neurodevelopmental delay","score":0.8360000252723694},{"id":"https://openalex.org/keywords/prenatal-screening","display_name":"prenatal screening","score":0.640999972820282},{"id":"https://openalex.org/keywords/fetal-development","display_name":"fetal development","score":0.38199999928474426},{"id":"https://openalex.org/keywords/prognosis","display_name":"prognosis","score":0.33399999141693115},{"id":"https://openalex.org/keywords/pathogenic-cnvs","display_name":"pathogenic CNVs","score":0.4690000116825104}],"concepts":[{"id":"https://openalex.org/C2776212519","wikidata":"https://www.wikidata.org/wiki/Q17146272","display_name":"Ventriculomegaly","level":4,"score":0.8306566476821899},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.6212425231933594},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.29206913709640503},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.23276099562644958},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.20501720905303955}],"mesh":[{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005500","descriptor_name":"Follow-Up Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006330","descriptor_name":"Heart Defects, Congenital","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006330","descriptor_name":"Heart Defects, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006332","descriptor_name":"Cardiomegaly","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D006332","descriptor_name":"Cardiomegaly","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006352","descriptor_name":"Heart Ventricles","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","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":"D011256","descriptor_name":"Pregnancy Outcome","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":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D063868","descriptor_name":"Patient Outcome Assessment","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.2174/1566524017666170303125529","doi":"https://doi.org/10.2174/1566524017666170303125529","is_oa":false,"landing_page_url":"https://doi.org/10.2174/1566524017666170303125529","pdf_url":null,"source":{"id":"https://openalex.org/S50220609","display_name":"Current Molecular Medicine","issn_l":"1566-5240","issn":["1566-5240","1875-5666"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320079","host_organization_name":"Bentham Science Publishers","host_organization_lineage":["https://openalex.org/P4310320079"],"host_organization_lineage_names":["Bentham Science Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Current Molecular Medicine","raw_type":"journal-article"},{"id":"pmid:28260505","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28260505","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":"Current molecular medicine","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9940000176429749,"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":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3117342928","https://openalex.org/W3177613179","https://openalex.org/W3133686356","https://openalex.org/W2792430290","https://openalex.org/W4396777840","https://openalex.org/W3214976625","https://openalex.org/W2955312729","https://openalex.org/W4386836529","https://openalex.org/W7162517511","https://openalex.org/W3002923693"],"abstract_inverted_index":{"BACKGROUND:":[0],"Copy":[1],"Number":[2],"Variations":[3],"(CNVs)":[4],"are":[5],"an":[6,96,257,284],"important":[7],"genetic":[8],"cause":[9],"of":[10,13,27,45,115,126,196,214,217,272,295],"a":[11,63,68,136],"number":[12],"neurodevelopmental":[14,156,189,296],"disorders":[15,157],"(NDs).":[16],"However,":[17],"the":[18,23,43,130,144,149,164,175,207,212,233,238,249,269],"association":[19,258],"between":[20,40,259],"CNVs":[21,41,108],"and":[22,25,42,59,185,209,261,275,289,293],"development":[24,44],"prognosis":[26,294],"fetal":[28,46,57,242,262,273,299],"isolated":[29],"mild":[30,188],"ventriculomegaly":[31],"(IMV)":[32],"is":[33],"unclear.":[34],"OBJECTIVES:":[35],"To":[36],"investigate":[37],"possible":[38],"associations":[39],"IMV.":[47,263,300],"METHODS:":[48],"This":[49,254],"retrospective":[50],"study":[51,255],"recruited":[52],"154":[53,116],"subjects":[54,61,128,171,194,220,225,236],"with":[55,135,155,183,187,211],"ultrasound-confirmed":[56],"IMV":[58,117,150,166,219,274],"190":[60,127],"in":[62,112,123,129,148,174,206,232,248,268,298],"control":[64],"cohort":[65,151],"who":[66],"underwent":[67],"high-risk":[69,133],"prenatal":[70,131],"serum":[71],"screening":[72,132],"program.":[73],"The":[74,191],"exclusion":[75],"criteria":[76],"included":[77],"fetus":[78,84,251],"G-banding":[79],"chromosomal":[80],"abnormality":[81],"or":[82,244],"positive":[83],"TORCH":[85],"infection.":[86],"DNA":[87],"samples":[88],"from":[89],"all":[90,153],"344":[91],"fetuses":[92,167],"were":[93,100,110,121,152,172,230],"examined":[94],"by":[95],"SNP-array.":[97],"Developmental":[98],"outcomes":[99,297],"assessed":[101],"during":[102],"postnatal":[103,176,276],"follow-up.":[104],"RESULTS:":[105],"Fourteen":[106],"pathogenic":[107],"(pCNVs)":[109],"identified":[111],"13":[113,165],"out":[114,125],"fetuses.":[118],"Three":[119],"pCNVs":[120,146,260,264],"found":[122,173],"3":[124],"cohort,":[134],"significant":[137],"difference":[138],"(P":[139],"value=0.016,":[140],"X2":[141],"test).":[142],"Notably,":[143],"14":[145],"detected":[147],"associated":[154],"(NDs),":[158],"including":[159,181],"autism,":[160],"intellectual":[161],"disability.":[162],"Among":[163],"carrying":[168],"pCNVs,":[169,223],"five":[170],"follow-up":[177],"to":[178,241],"manifest":[179],"NDs,":[180],"two":[182,204],"autism":[184],"three":[186,197,210],"delay.":[190],"other":[192],"8":[193],"consisted":[195],"normal":[198,227],"infants":[199],"younger":[200],"than":[201],"12-months":[202],"old,":[203],"lost":[205,231],"follow-up,":[208,234],"termination":[213],"pregnancy.":[215],"Out":[216],"141":[218],"without":[221],"detectable":[222],"123":[224],"showed":[226],"development,":[228],"16":[229],"2":[235],"terminated":[237],"pregnancy":[239],"due":[240],"hydrocephalus":[243],"congenital":[245],"heart":[246],"disease":[247],"late":[250],"development.":[252],"CONCLUSIONS:":[253],"suggests":[256],"may":[265,282],"be":[266],"involved":[267],"pathological":[270],"process":[271],"NDs.":[277],"Identifying":[278],"specific":[279],"genomic":[280],"alterations":[281],"provide":[283],"insight":[285],"into":[286],"pathogenetic":[287],"mechanism":[288],"aid":[290],"better":[291],"diagnosis":[292]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2017-03-16T00:00:00"}