{"id":"https://openalex.org/W4414529288","doi":"https://doi.org/10.1038/s10038-025-01409-y","title":"Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan","display_name":"Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan","publication_year":2025,"publication_date":"2025-09-26","ids":{"openalex":"https://openalex.org/W4414529288","doi":"https://doi.org/10.1038/s10038-025-01409-y","pmid":"https://pubmed.ncbi.nlm.nih.gov/40999196"},"language":"en","primary_location":{"id":"doi:10.1038/s10038-025-01409-y","doi":"https://doi.org/10.1038/s10038-025-01409-y","is_oa":false,"landing_page_url":"https://doi.org/10.1038/s10038-025-01409-y","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","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/A5031962020","display_name":"Yuka Iijima Yamashita","orcid":"https://orcid.org/0000-0001-8452-8950","observed_orcids":["https://orcid.org/0000-0001-8452-8950"]},"institutions":[{"id":"https://openalex.org/I119182057","display_name":"SHOWA Medical University","ror":"https://ror.org/04mzk4q39","country_code":"JP","type":"education","lineage":["https://openalex.org/I119182057"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Yuka Yamashita","raw_affiliation_strings":["Showa Medical University School of Medicine Department of Obstetrics and Gynecology, Tokyo, Japan. yuka.yamashita@med.showa-u.ac.jp","Showa Medical University School of Medicine Department of Obstetrics and Gynecology, Tokyo, Japan"],"raw_orcid":"https://orcid.org/0000-0001-8452-8950","affiliations":[{"raw_affiliation_string":"Showa Medical University School of Medicine Department of Obstetrics and Gynecology, Tokyo, Japan. yuka.yamashita@med.showa-u.ac.jp","institution_ids":["https://openalex.org/I119182057"]},{"raw_affiliation_string":"Showa Medical University School of Medicine Department of Obstetrics and Gynecology, Tokyo, Japan","institution_ids":["https://openalex.org/I119182057"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033662374","display_name":"\u306a\u307b\u5b50 \u767d\u571f","orcid":"https://orcid.org/0000-0003-1150-4215","observed_orcids":["https://orcid.org/0000-0003-1150-4215"]},"institutions":[{"id":"https://openalex.org/I119182057","display_name":"SHOWA Medical University","ror":"https://ror.org/04mzk4q39","country_code":"JP","type":"education","lineage":["https://openalex.org/I119182057"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Nahoko Shirato","raw_affiliation_strings":["Showa Medical University School of Medicine Department of Obstetrics and Gynecology, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Showa Medical University School of Medicine Department of Obstetrics and Gynecology, Tokyo, Japan","institution_ids":["https://openalex.org/I119182057"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Tatsuko Ishii","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119182057","display_name":"SHOWA Medical University","ror":"https://ror.org/04mzk4q39","country_code":"JP","type":"education","lineage":["https://openalex.org/I119182057"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tatsuko Ishii","raw_affiliation_strings":["Showa Medical University School of Medicine Center of Clinical Genetics, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Showa Medical University School of Medicine Center of Clinical Genetics, Tokyo, Japan","institution_ids":["https://openalex.org/I119182057"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042602788","display_name":"Mikiko Izumi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119182057","display_name":"SHOWA Medical University","ror":"https://ror.org/04mzk4q39","country_code":"JP","type":"education","lineage":["https://openalex.org/I119182057"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Mikiko Izumi","raw_affiliation_strings":["Showa Medical University School of Medicine Center of Clinical Genetics, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Showa Medical University School of Medicine Center of Clinical Genetics, Tokyo, Japan","institution_ids":["https://openalex.org/I119182057"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003997213","display_name":"Kiyotake Ichizuka","orcid":"https://orcid.org/0000-0003-2436-4469","observed_orcids":["https://orcid.org/0000-0003-2436-4469"]},"institutions":[{"id":"https://openalex.org/I4210102361","display_name":"SHOWA Medical University Northern Yokohama Hospital","ror":"https://ror.org/00p9rpe63","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210102361"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kiyotake Ichizuka","raw_affiliation_strings":["Showa Medical University Northern Yokohama Hospital Department of Obstetrics and Gynecology, Kanagawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Showa Medical University Northern Yokohama Hospital Department of Obstetrics and Gynecology, Kanagawa, Japan","institution_ids":["https://openalex.org/I4210102361"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111883783","display_name":"Makiko Tominaga","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210102361","display_name":"SHOWA Medical University Northern Yokohama Hospital","ror":"https://ror.org/00p9rpe63","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210102361"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Makiko Tominaga","raw_affiliation_strings":["Showa Medical University Northern Yokohama Hospital Department of Pediatrics, Kanagawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Showa Medical University Northern Yokohama Hospital Department of Pediatrics, Kanagawa, Japan","institution_ids":["https://openalex.org/I4210102361"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087549089","display_name":"Reina Komatsu","orcid":"https://orcid.org/0009-0008-7681-9051","observed_orcids":["https://orcid.org/0009-0008-7681-9051"]},"institutions":[{"id":"https://openalex.org/I4387155286","display_name":"SHOWA Medical University Koto Toyosu Hospital","ror":"https://ror.org/02xt4jj17","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4387155286"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Reina Komatsu","raw_affiliation_strings":["Showa Medical University Koto Toyosu Hospital Department of Obstetrics and Gynecology, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Showa Medical University Koto Toyosu Hospital Department of Obstetrics and Gynecology, Tokyo, Japan","institution_ids":["https://openalex.org/I4387155286"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Tetsuro Kondo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4387155286","display_name":"SHOWA Medical University Koto Toyosu Hospital","ror":"https://ror.org/02xt4jj17","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4387155286"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tetsuro Kondo","raw_affiliation_strings":["Showa Medical University Koto Toyosu Hospital Department of Obstetrics and Gynecology, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Showa Medical University Koto Toyosu Hospital Department of Obstetrics and Gynecology, Tokyo, Japan","institution_ids":["https://openalex.org/I4387155286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010413612","display_name":"Seiji Wada","orcid":"https://orcid.org/0000-0002-8654-6623","observed_orcids":["https://orcid.org/0000-0002-8654-6623"]},"institutions":[{"id":"https://openalex.org/I4210132193","display_name":"National Center For Child Health and Development","ror":"https://ror.org/03fvwxc59","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210132193"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Seiji Wada","raw_affiliation_strings":["National Center for Child Health and Development, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Center for Child Health and Development, Tokyo, Japan","institution_ids":["https://openalex.org/I4210132193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011095943","display_name":"Haruhiko Sago","orcid":"https://orcid.org/0000-0001-9387-1849","observed_orcids":["https://orcid.org/0000-0001-9387-1849"]},"institutions":[{"id":"https://openalex.org/I4210132193","display_name":"National Center For Child Health and Development","ror":"https://ror.org/03fvwxc59","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210132193"]},{"id":"https://openalex.org/I4210162813","display_name":"Sanno Medical Center","ror":"https://ror.org/055mpn097","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210162813"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Haruhiko Sago","raw_affiliation_strings":["National Center for Child Health and Development, Tokyo, Japan","Sanno Birth Center, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Center for Child Health and Development, Tokyo, Japan","institution_ids":["https://openalex.org/I4210132193"]},{"raw_affiliation_string":"Sanno Birth Center, Tokyo, Japan","institution_ids":["https://openalex.org/I4210162813"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079831153","display_name":"Yuki Ito","orcid":"https://orcid.org/0000-0002-6882-7560","observed_orcids":["https://orcid.org/0000-0002-6882-7560"]},"institutions":[{"id":"https://openalex.org/I115498069","display_name":"Jikei University School of Medicine","ror":"https://ror.org/039ygjf22","country_code":"JP","type":"education","lineage":["https://openalex.org/I115498069"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yuki Ito","raw_affiliation_strings":["The Jikei University School of Medicine Department of Obstetrics and Gynecology, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Jikei University School of Medicine Department of Obstetrics and Gynecology, Tokyo, Japan","institution_ids":["https://openalex.org/I115498069"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047214885","display_name":"Osamu Samura","orcid":"https://orcid.org/0000-0002-7249-1537","observed_orcids":["https://orcid.org/0000-0002-7249-1537"]},"institutions":[{"id":"https://openalex.org/I115498069","display_name":"Jikei University School of Medicine","ror":"https://ror.org/039ygjf22","country_code":"JP","type":"education","lineage":["https://openalex.org/I115498069"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Osamu Samura","raw_affiliation_strings":["The Jikei University School of Medicine Department of Obstetrics and Gynecology, Tokyo, Japan"],"raw_orcid":"https://orcid.org/0000-0002-7249-1537","affiliations":[{"raw_affiliation_string":"The Jikei University School of Medicine Department of Obstetrics and Gynecology, Tokyo, Japan","institution_ids":["https://openalex.org/I115498069"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026836568","display_name":"Nobuhiro Suzumori","orcid":"https://orcid.org/0000-0001-9003-1289","observed_orcids":["https://orcid.org/0000-0001-9003-1289"]},"institutions":[{"id":"https://openalex.org/I180680657","display_name":"Iwate Medical University","ror":"https://ror.org/04cybtr86","country_code":"JP","type":"education","lineage":["https://openalex.org/I180680657"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Nobuhiro Suzumori","raw_affiliation_strings":["Iwate Medical University Department of Clinical Genetics, Iwate, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Iwate Medical University Department of Clinical Genetics, Iwate, Japan","institution_ids":["https://openalex.org/I180680657"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053205447","display_name":"Hideaki Sawai","orcid":"https://orcid.org/0000-0002-8997-464X","observed_orcids":["https://orcid.org/0000-0002-8997-464X"]},"institutions":[{"id":"https://openalex.org/I137459256","display_name":"Hyogo Medical University","ror":"https://ror.org/001yc7927","country_code":"JP","type":"education","lineage":["https://openalex.org/I137459256"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hideaki Sawai","raw_affiliation_strings":["Hyogo Medical University Department of Obstetrics and Gynecology, Hyogo, Japan"],"raw_orcid":"https://orcid.org/0000-0002-8997-464X","affiliations":[{"raw_affiliation_string":"Hyogo Medical University Department of Obstetrics and Gynecology, Hyogo, Japan","institution_ids":["https://openalex.org/I137459256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060670284","display_name":"Yukiko Katagiri","orcid":"https://orcid.org/0000-0002-0052-896X","observed_orcids":["https://orcid.org/0000-0002-0052-896X"]},"institutions":[{"id":"https://openalex.org/I4210095039","display_name":"Toho University Omori Medical Center","ror":"https://ror.org/00qf0yp70","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210095039"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yukiko Katagiri","raw_affiliation_strings":["Toho University Omori Medical Center Department of Obstetrics and Gynecology, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Toho University Omori Medical Center Department of Obstetrics and Gynecology, Tokyo, Japan","institution_ids":["https://openalex.org/I4210095039"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109639859","display_name":"Yoshiki Maeda","orcid":"https://orcid.org/0009-0005-2075-7822","observed_orcids":["https://orcid.org/0009-0005-2075-7822"]},"institutions":[{"id":"https://openalex.org/I4405254138","display_name":"Kuwana City Medical Center","ror":"https://ror.org/01f8dzj77","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405254138"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshiki Maeda","raw_affiliation_strings":["Sakakibara Heart Institute Department of Obstetrics and Gynecology, Kuwana City Medical Center Department of Obstetrics and Gynecology, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sakakibara Heart Institute Department of Obstetrics and Gynecology, Kuwana City Medical Center Department of Obstetrics and Gynecology, Tokyo, Japan","institution_ids":["https://openalex.org/I4405254138"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065481074","display_name":"Hiroko Morisaki","orcid":"https://orcid.org/0000-0002-6956-6374","observed_orcids":["https://orcid.org/0000-0002-6956-6374"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hiroko Morisaki","raw_affiliation_strings":["Sakakibara Heart Institute Department of Clinical Genetics, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sakakibara Heart Institute Department of Clinical Genetics, Tokyo, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021974131","display_name":"Akira Namba","orcid":"https://orcid.org/0000-0001-6092-3104","observed_orcids":["https://orcid.org/0000-0001-6092-3104"]},"institutions":[{"id":"https://openalex.org/I4210121151","display_name":"Saitama Medical University Hospital","ror":"https://ror.org/02tyjnv32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210121151"]},{"id":"https://openalex.org/I8588240","display_name":"Saitama Medical University","ror":"https://ror.org/04zb31v77","country_code":"JP","type":"education","lineage":["https://openalex.org/I8588240"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Akira Namba","raw_affiliation_strings":["Saitama Medical University Hospital Department of Obstetrics and Gynecology, Saitama, Japan"],"raw_orcid":"https://orcid.org/0000-0001-6092-3104","affiliations":[{"raw_affiliation_string":"Saitama Medical University Hospital Department of Obstetrics and Gynecology, Saitama, Japan","institution_ids":["https://openalex.org/I4210121151","https://openalex.org/I8588240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068692654","display_name":"Yoshimasa Kamei","orcid":"https://orcid.org/0000-0002-8389-6310","observed_orcids":["https://orcid.org/0000-0002-8389-6310"]},"institutions":[{"id":"https://openalex.org/I4210121151","display_name":"Saitama Medical University Hospital","ror":"https://ror.org/02tyjnv32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210121151"]},{"id":"https://openalex.org/I8588240","display_name":"Saitama Medical University","ror":"https://ror.org/04zb31v77","country_code":"JP","type":"education","lineage":["https://openalex.org/I8588240"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshimasa Kamei","raw_affiliation_strings":["Saitama Medical University Hospital Department of Obstetrics and Gynecology, Saitama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Saitama Medical University Hospital Department of Obstetrics and Gynecology, Saitama, Japan","institution_ids":["https://openalex.org/I4210121151","https://openalex.org/I8588240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037968515","display_name":"Junko Yotsumoto","orcid":"https://orcid.org/0000-0002-1615-9767","observed_orcids":["https://orcid.org/0000-0002-1615-9767"]},"institutions":[{"id":"https://openalex.org/I8588240","display_name":"Saitama Medical University","ror":"https://ror.org/04zb31v77","country_code":"JP","type":"education","lineage":["https://openalex.org/I8588240"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Junko Yotsumoto","raw_affiliation_strings":["Saitama Medical University Department of Genomics Medicine, Saitama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Saitama Medical University Department of Genomics Medicine, Saitama, Japan","institution_ids":["https://openalex.org/I8588240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024952434","display_name":"Yuri Hasegawa","orcid":"https://orcid.org/0000-0002-9584-0023","observed_orcids":["https://orcid.org/0000-0002-9584-0023"]},"institutions":[{"id":"https://openalex.org/I43777268","display_name":"Nagasaki University","ror":"https://ror.org/058h74p94","country_code":"JP","type":"education","lineage":["https://openalex.org/I43777268"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yuri Hasegawa","raw_affiliation_strings":["Nagasaki University Graduate School of Biomedical Sciences Department of Obstetrics and Gynecology, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nagasaki University Graduate School of Biomedical Sciences Department of Obstetrics and Gynecology, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan","institution_ids":["https://openalex.org/I43777268"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060189121","display_name":"Kiyonori Miura","orcid":"https://orcid.org/0000-0001-5396-8881","observed_orcids":["https://orcid.org/0000-0001-5396-8881"]},"institutions":[{"id":"https://openalex.org/I43777268","display_name":"Nagasaki University","ror":"https://ror.org/058h74p94","country_code":"JP","type":"education","lineage":["https://openalex.org/I43777268"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kiyonori Miura","raw_affiliation_strings":["Nagasaki University Graduate School of Biomedical Sciences Department of Obstetrics and Gynecology, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan"],"raw_orcid":"https://orcid.org/0000-0001-5396-8881","affiliations":[{"raw_affiliation_string":"Nagasaki University Graduate School of Biomedical Sciences Department of Obstetrics and Gynecology, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan","institution_ids":["https://openalex.org/I43777268"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111670232","display_name":"Setsuko Nakayama","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Setsuko Nakayama","raw_affiliation_strings":["Aiiku Clinic Department of Prenatal Diagnosis, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aiiku Clinic Department of Prenatal Diagnosis, Tokyo, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Satoshi Kawaguchi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210141669","display_name":"Hokkaido University Hospital","ror":"https://ror.org/0419drx70","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210141669"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Satoshi Kawaguchi","raw_affiliation_strings":["Hokkaido University Hospital Department of Obstetrics and Gynecology, Hokkaido, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hokkaido University Hospital Department of Obstetrics and Gynecology, Hokkaido, Japan","institution_ids":["https://openalex.org/I4210141669"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012338598","display_name":"Haruka Hamanoue","orcid":"https://orcid.org/0000-0002-6008-4002","observed_orcids":["https://orcid.org/0000-0002-6008-4002"]},"institutions":[{"id":"https://openalex.org/I4210099218","display_name":"Yokohama City University Hospital","ror":"https://ror.org/010hfy465","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210099218"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Haruka Hamanoue","raw_affiliation_strings":["Yokohama City University Hospital Department of Clinical Genetics, Kanagawa, Japan"],"raw_orcid":"https://orcid.org/0000-0002-6008-4002","affiliations":[{"raw_affiliation_string":"Yokohama City University Hospital Department of Clinical Genetics, Kanagawa, Japan","institution_ids":["https://openalex.org/I4210099218"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061707543","display_name":"Kazuya Mimura","orcid":"https://orcid.org/0000-0002-0950-7110","observed_orcids":["https://orcid.org/0000-0002-0950-7110"]},"institutions":[{"id":"https://openalex.org/I4210155576","display_name":"Osaka University Hospital","ror":"https://ror.org/05rnn8t74","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210155576","https://openalex.org/I98285908"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kazuya Mimura","raw_affiliation_strings":["Osaka University Hospital Department of Obstetrics and Gynecology, Osaka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Osaka University Hospital Department of Obstetrics and Gynecology, Osaka, Japan","institution_ids":["https://openalex.org/I4210155576"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029675385","display_name":"Yuko Matsubara","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210110672","display_name":"Ehime University Hospital","ror":"https://ror.org/01vpa9c32","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210110672","https://openalex.org/I43545212"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yuko Matsubara","raw_affiliation_strings":["Ehime University Hospital Department of Obstetrics and Gynecology, Ehime, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ehime University Hospital Department of Obstetrics and Gynecology, Ehime, Japan","institution_ids":["https://openalex.org/I4210110672"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101828478","display_name":"Yoko Okamoto","orcid":"https://orcid.org/0000-0001-7857-0909","observed_orcids":["https://orcid.org/0000-0001-7857-0909"]},"institutions":[{"id":"https://openalex.org/I4210095711","display_name":"Osaka Women's and Children's Hospital","ror":"https://ror.org/00nx7n658","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210095711","https://openalex.org/I4405282797"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoko Okamoto","raw_affiliation_strings":["Osaka Women's and Children's Hospital Department of Obstetrics and Gynecology, Osaka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Osaka Women's and Children's Hospital Department of Obstetrics and Gynecology, Osaka, Japan","institution_ids":["https://openalex.org/I4210095711"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111513692","display_name":"Arisa Fujiwara","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018397740","display_name":"National Kyushu Medical Center","ror":"https://ror.org/022296476","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I3018397740","https://openalex.org/I4210137409"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Arisa Fujiwara","raw_affiliation_strings":["National Hospital Organization Kyushu Medical Center Department of Obstetrics and Gynecology, Fukuoka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Hospital Organization Kyushu Medical Center Department of Obstetrics and Gynecology, Fukuoka, Japan","institution_ids":["https://openalex.org/I3018397740"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112582043","display_name":"Kazutoshi Maeda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210137409","display_name":"National Hospital Organization","ror":"https://ror.org/03ntccx93","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210160710","display_name":"Shikoku Medical Center for Children and Adults","ror":"https://ror.org/05jreb977","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210160710"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kazutoshi Maeda","raw_affiliation_strings":["National Hospital Organization Shikoku Medical Center for Children and Adults Department of Obstetrics and Gynecology, Kagawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Hospital Organization Shikoku Medical Center for Children and Adults Department of Obstetrics and Gynecology, Kagawa, Japan","institution_ids":["https://openalex.org/I4210137409","https://openalex.org/I4210160710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105286243","display_name":"Takafumi Watanabe","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210146632","display_name":"Fukushima Medical University Hospital","ror":"https://ror.org/048fx3n07","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210146632"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takafumi Watanabe","raw_affiliation_strings":["Fukushima Medical University Hospital Department of Obstetrics and Gynecology, Fukushima, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fukushima Medical University Hospital Department of Obstetrics and Gynecology, Fukushima, Japan","institution_ids":["https://openalex.org/I4210146632"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079094943","display_name":"Akinori Ida","orcid":"https://orcid.org/0000-0002-3053-1510","observed_orcids":["https://orcid.org/0000-0002-3053-1510"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Akinori Ida","raw_affiliation_strings":["Kobe Adventist Hospital Department of Obstetrics and Gynecology, Hyogo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kobe Adventist Hospital Department of Obstetrics and Gynecology, Hyogo, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037450361","display_name":"Hiromi Hayakawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405255352","display_name":"Aichi Children's Health and Medical Center","ror":"https://ror.org/02xa0x739","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405255352"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiromi Hayakawa","raw_affiliation_strings":["Aichi Children's Health and Medical Center Department of Obstetrics, Aichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aichi Children's Health and Medical Center Department of Obstetrics, Aichi, Japan","institution_ids":["https://openalex.org/I4405255352"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Koshichi Goto","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Koshichi Goto","raw_affiliation_strings":["Eurofins GeneTech, Inc, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Eurofins GeneTech, Inc, Tokyo, Japan","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5051610382","display_name":"Akihiko Sekizawa","orcid":"https://orcid.org/0000-0003-2249-1333","observed_orcids":["https://orcid.org/0000-0003-2249-1333"]},"institutions":[{"id":"https://openalex.org/I119182057","display_name":"SHOWA Medical University","ror":"https://ror.org/04mzk4q39","country_code":"JP","type":"education","lineage":["https://openalex.org/I119182057"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Akihiko Sekizawa","raw_affiliation_strings":["Showa Medical University School of Medicine Department of Obstetrics and Gynecology, Tokyo, Japan"],"raw_orcid":"https://orcid.org/0000-0003-2249-1333","affiliations":[{"raw_affiliation_string":"Showa Medical University School of Medicine Department of Obstetrics and Gynecology, Tokyo, Japan","institution_ids":["https://openalex.org/I119182057"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":23,"corresponding_author_ids":["https://openalex.org/A5031962020"],"corresponding_institution_ids":["https://openalex.org/I119182057"],"apc_list":{"value":5490,"currency":"USD","value_usd":5490},"apc_paid":null,"fwci":0.9766,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.75236788,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"71","issue":"2","first_page":"81","last_page":"89"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":1.0,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":1.0,"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":9.999999747378752e-05,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"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/non-invasive-prenatal-testing","display_name":"non-invasive prenatal testing","score":0.9399999976158142},{"id":"https://openalex.org/keywords/perinatal-outcomes","display_name":"perinatal outcomes","score":0.9039999842643738},{"id":"https://openalex.org/keywords/pathogenic-cnvs","display_name":"pathogenic CNVs","score":0.781000018119812},{"id":"https://openalex.org/keywords/microdeletion-syndromes","display_name":"microdeletion syndromes","score":0.734000027179718},{"id":"https://openalex.org/keywords/22q11-2-deletion","display_name":"22q11.2 deletion","score":0.9150000214576721},{"id":"https://openalex.org/keywords/miscarriage","display_name":"miscarriage","score":0.8550000190734863},{"id":"https://openalex.org/keywords/intrauterine-growth-restriction","display_name":"fetal growth restriction","score":0.9610000252723694},{"id":"https://openalex.org/keywords/fetal-structural-anomalies","display_name":"fetal structural anomalies","score":0.7990000247955322},{"id":"https://openalex.org/keywords/prenatal-counselling","display_name":"prenatal counseling","score":0.8420000076293945},{"id":"https://openalex.org/keywords/cell-free-fetal-dna","display_name":"cell-free fetal DNA","score":0.7749999761581421}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.7875000238418579},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6862000226974487},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.5889000296592712},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.5540000200271606},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.5250999927520752},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.51910001039505},{"id":"https://openalex.org/C167135981","wikidata":"https://www.wikidata.org/wiki/Q2146302","display_name":"Retrospective cohort study","level":2,"score":0.4864000082015991},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.4032999873161316},{"id":"https://openalex.org/C152110520","wikidata":"https://www.wikidata.org/wiki/Q14225730","display_name":"Cell-free fetal DNA","level":5,"score":0.39879998564720154},{"id":"https://openalex.org/C201903717","wikidata":"https://www.wikidata.org/wiki/Q1778788","display_name":"Cohort study","level":2,"score":0.37450000643730164},{"id":"https://openalex.org/C192800701","wikidata":"https://www.wikidata.org/wiki/Q6784807","display_name":"Massive parallel sequencing","level":4,"score":0.3167000114917755},{"id":"https://openalex.org/C63363279","wikidata":"https://www.wikidata.org/wiki/Q5133848","display_name":"Clinical significance","level":2,"score":0.31470000743865967},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.31209999322891235},{"id":"https://openalex.org/C157585117","wikidata":"https://www.wikidata.org/wiki/Q158666","display_name":"Omics","level":2,"score":0.31049999594688416},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3075000047683716},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.296999990940094},{"id":"https://openalex.org/C2992422692","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal screening","level":5,"score":0.28839999437332153},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.28290000557899475},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.2651999890804291}],"mesh":[{"descriptor_ui":"D000073888","descriptor_name":"Cell-Free Nucleic Acids","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000073888","descriptor_name":"Cell-Free Nucleic Acids","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000081182","descriptor_name":"Noninvasive Prenatal Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D005333","descriptor_name":"Fetus","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":"D007564","descriptor_name":"Japan","qualifier_ui":"Q000453","qualifier_name":"epidemiology","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":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1038/s10038-025-01409-y","doi":"https://doi.org/10.1038/s10038-025-01409-y","is_oa":false,"landing_page_url":"https://doi.org/10.1038/s10038-025-01409-y","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:40999196","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40999196","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":"Journal of human genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G7787013030","display_name":"\u598a\u5a66\u8840\u6f3f\u4e2dcfDNA\u306e\u30b2\u30ce\u30e0\u89e3\u6790\u30c7\u30fc\u30bf\u3092\u7528\u3044\u305f\u5468\u7523\u671f\u4e88\u5f8c\u306e\u8a55\u4fa1\u6cd5\u306e\u958b\u767a","funder_award_id":"23K08810","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1482108448","https://openalex.org/W1516928463","https://openalex.org/W1638606089","https://openalex.org/W2068894833","https://openalex.org/W2100977485","https://openalex.org/W2121960517","https://openalex.org/W2144067971","https://openalex.org/W2172268977","https://openalex.org/W2622139813","https://openalex.org/W2750712999","https://openalex.org/W2807645279","https://openalex.org/W2887336438","https://openalex.org/W2887518169","https://openalex.org/W2905953310","https://openalex.org/W2983742483","https://openalex.org/W3036537589","https://openalex.org/W3097212705","https://openalex.org/W3160627571","https://openalex.org/W3211110433","https://openalex.org/W4200496064","https://openalex.org/W4254269280","https://openalex.org/W4284891684","https://openalex.org/W4311728775","https://openalex.org/W4315628555","https://openalex.org/W4380203577","https://openalex.org/W4389003080","https://openalex.org/W4406421370","https://openalex.org/W4407254352"],"related_works":["https://openalex.org/W4403093793","https://openalex.org/W4399250725","https://openalex.org/W3040503751","https://openalex.org/W7123352767","https://openalex.org/W7132825929","https://openalex.org/W4390988439","https://openalex.org/W4200496064","https://openalex.org/W2970533696","https://openalex.org/W3140685462","https://openalex.org/W3048922075"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2025-10-10T00:00:00"}
