{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T13:35:48Z","timestamp":1793367348421,"version":"4.5.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T00:00:00Z","timestamp":1670198400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T00:00:00Z","timestamp":1670198400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"Henan Medical Science and technology research","award":["LHGJ20190361"],"award-info":[{"award-number":["LHGJ20190361"]}]},{"name":"Key R & D and promotion projects in Henan","award":["202102310388"],"award-info":[{"award-number":["202102310388"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Arch Gynecol Obstet"],"DOI":"10.1007\/s00404-022-06866-w","type":"journal-article","created":{"date-parts":[[2022,12,4]],"date-time":"2022-12-04T21:03:38Z","timestamp":1670187818000},"page":"1723-1735","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Pathogenic\/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations"],"prefix":"10.1007","volume":"308","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0107-9796","authenticated-orcid":false,"given":"Yunxiao","family":"Zhi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shihong","family":"Cui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Che","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lanlan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,12,5]]},"reference":[{"issue":"6","key":"6866_CR1","first-page":"AC05","volume":"8","author":"D Onkar","year":"2014","unstructured":"Onkar D, Onkar P, Mitra K (2014) Evaluation of fetal central nervous system anomalies by ultrasound and its anatomical corelation[J]. J Clin Diagn Res 8(6):AC05-07","journal-title":"J Clin Diagn Res"},{"key":"6866_CR2","doi-asserted-by":"publisher","first-page":"30","DOI":"10.4103\/2156-7514.96546","volume":"2","author":"LT Rios","year":"2012","unstructured":"Rios LT, Araujo J\u00fanior E, Nardozza LM et al (2012) Prenatal and postnatal schizencephaly findings by 2D and 3D ultrasound: pictorial essay[J]. J Clin Imaging Sci 2:30","journal-title":"J Clin Imaging Sci"},{"key":"6866_CR3","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-022-06584-3","author":"J Bijok","year":"2022","unstructured":"Bijok J, D\u0105bkowska S, Kuci\u0144ska-Chahwan A et al (2022) Prenatal diagnosis of acrania\/exencephaly\/anencephaly sequence (AEAS): additional structural and genetic anomalies. Arch Gynecol Obstet. https:\/\/doi.org\/10.1007\/s00404-022-06584-3","journal-title":"Arch Gynecol Obstet"},{"issue":"3","key":"6866_CR4","doi-asserted-by":"publisher","first-page":"285.e1","DOI":"10.1016\/j.ajog.2008.06.100","volume":"199","author":"KR Goetzinger","year":"2008","unstructured":"Goetzinger KR, Stamilio DM, Dicke JM et al (2008) Evaluating the incidence and likelihood ratios for chromosomal abnormalities in fetuses with common central nervous system malformations[J]. Am J Obstet Gynecol 199(3):285.e1\u20136","journal-title":"Am J Obstet Gynecol"},{"issue":"4","key":"6866_CR5","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1007\/s00404-022-06477-5","volume":"305","author":"KO Kagan","year":"2022","unstructured":"Kagan KO, Sonek J, Kozlowski P (2022) Antenatal screening for chromosomal abnormalities. Arch Gynecol Obstet 305(4):825\u2013835","journal-title":"Arch Gynecol Obstet"},{"issue":"4","key":"6866_CR6","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1038\/nrn2107","volume":"8","author":"LK Paul","year":"2007","unstructured":"Paul LK, Brown WS, Adolphs R et al (2007) Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity[J]. Nat Rev Neurosci 8(4):287\u2013299","journal-title":"Nat Rev Neurosci"},{"issue":"19","key":"6866_CR7","doi-asserted-by":"publisher","first-page":"2495","DOI":"10.1002\/ajmg.a.32418","volume":"146A","author":"HC Glass","year":"2008","unstructured":"Glass HC, Shaw GM, Ma C et al (2008) Agenesis of the corpus callosum in California 1983\u20132003: a population-based study[J]. Am J Med Genet A 146A(19):2495\u20132500","journal-title":"Am J Med Genet A"},{"issue":"4","key":"6866_CR8","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1111\/j.1741-4520.2007.00158.x","volume":"47","author":"G Imataka","year":"2007","unstructured":"Imataka G, Yamanouchi H, Arisaka O (2007) Dandy-Walker syndrome and chromosomal abnormalities[J]. Congenit Anom (Kyoto) 47(4):113\u2013118","journal-title":"Congenit Anom (Kyoto)"},{"issue":"5","key":"6866_CR9","doi-asserted-by":"publisher","first-page":"1192","DOI":"10.1002\/ajmg.a.36435","volume":"164A","author":"LM Harper","year":"2014","unstructured":"Harper LM, Sutton ALM, Longman RE et al (2014) An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies. Am J Med Genet Part A 164A(5):1192\u20131197","journal-title":"Am J Med Genet Part A"},{"issue":"6","key":"6866_CR10","doi-asserted-by":"publisher","first-page":"1374","DOI":"10.1097\/01.AOG.0000438962.16108.d1","volume":"122","author":"American College of Obstetricians and Gynecologists Committee on Genetics","year":"2013","unstructured":"American College of Obstetricians and Gynecologists Committee on Genetics (2013) Committee opinion no. 581: the use of chromosomal microarray analysis in prenatal diagnosis[J]. Obstet Gynecol 122(6):1374\u20131377","journal-title":"Obstet Gynecol"},{"issue":"6","key":"6866_CR11","doi-asserted-by":"publisher","first-page":"e262","DOI":"10.1097\/AOG.0000000000001817","volume":"128","author":"Committee on Genetics and the Society for Maternal-Fetal Medicine","year":"2016","unstructured":"Committee on Genetics and the Society for Maternal-Fetal Medicine (2016) Committee opinion no. 682: microarrays and next generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology[J]. Obstet Gynecol 128(6):e262\u2013e268","journal-title":"Obstet Gynecol"},{"issue":"16","key":"6866_CR12","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","volume":"369","author":"Y Yang","year":"2013","unstructured":"Yang Y, Muzny DM, Reid JG et al (2013) Clinical whole-exome sequencing for the diagnosis of mendelian disorders[J]. N Engl J Med 369(16):1502\u20131511","journal-title":"N Engl J Med"},{"issue":"18","key":"6866_CR13","doi-asserted-by":"publisher","first-page":"1870","DOI":"10.1001\/jama.2014.14601","volume":"312","author":"Y Yang","year":"2014","unstructured":"Yang Y, Muzny DM, Xia F et al (2014) Molecular findings among patients referred for clinical whole-exome sequencing[J]. JAMA 312(18):1870\u20131879","journal-title":"JAMA"},{"issue":"10173","key":"6866_CR14","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1016\/S0140-6736(18)32042-7","volume":"393","author":"S Petrovski","year":"2019","unstructured":"Petrovski S, Aggarwal V, Giordano JL et al (2019) Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study[J]. Lancet 393(10173):758\u2013767","journal-title":"Lancet"},{"issue":"10173","key":"6866_CR15","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1016\/S0140-6736(18)31940-8","volume":"393","author":"J Lord","year":"2019","unstructured":"Lord J, McMullan DJ, Eberhardt RY et al (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study[J]. Lancet 393(10173):747\u2013757","journal-title":"Lancet"},{"issue":"1","key":"6866_CR16","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1038\/s41525-022-00301-4","volume":"7","author":"Y Yang","year":"2022","unstructured":"Yang Y, Zhao S, Sun G et al (2022) Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing. NPJ Genom Med 7(1):31","journal-title":"NPJ Genom Med"},{"issue":"9","key":"6866_CR17","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1002\/pd.5520","volume":"39","author":"IB Van den Veyver","year":"2019","unstructured":"Van den Veyver IB (2019) Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: a practical review. Prenat Diagn 39(9):666\u2013678","journal-title":"Prenat Diagn"},{"issue":"8","key":"6866_CR18","first-page":"634","volume":"25","author":"Li Kui","year":"2022","unstructured":"Kui Li, Huixia Y (2022) Comments\u2014Is it appropriate to try intrauterine treatment for fetal hydrocephalus now?[J]. Chin J Perinat Med 25(8):634\u2013635","journal-title":"Chin J Perinat Med"},{"issue":"16","key":"6866_CR19","doi-asserted-by":"publisher","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","volume":"31","author":"Y Choi","year":"2015","unstructured":"Choi Y, Chan AP (2015) PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels[J]. Bioinformatics 31(16):2745\u20132747","journal-title":"Bioinformatics"},{"issue":"3","key":"6866_CR20","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","volume":"46","author":"M Kircher","year":"2014","unstructured":"Kircher M, Witten DM, Jain P et al (2014) A general framework for estimating the relative pathogenicity of human genetic variants[J]. Nat Genet 46(3):310\u2013315","journal-title":"Nat Genet"},{"issue":"10","key":"6866_CR21","doi-asserted-by":"publisher","first-page":"1228","DOI":"10.1002\/pd.5732","volume":"40","author":"L Li","year":"2020","unstructured":"Li L, Fu F, Li R et al (2020) Genetic tests aid in counseling of fetuses with cerebellar vermis defects[J]. Prenat Diagn 40(10):1228\u20131238","journal-title":"Prenat Diagn"},{"issue":"5","key":"6866_CR22","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology[J]. Genet Med 17(5):405\u2013424","journal-title":"Genet Med"},{"issue":"3","key":"6866_CR23","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1007\/s00404-021-06334-x","volume":"306","author":"B Aslan \u00c7etin","year":"2022","unstructured":"Aslan \u00c7etin B, Madazl\u0131 R (2022) Assessment of normal fetal cortical sulcus development. Arch Gynecol Obstet 306(3):735\u2013743","journal-title":"Arch Gynecol Obstet"},{"issue":"3","key":"6866_CR24","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1002\/uog.22145","volume":"56","author":"G Malinger","year":"2020","unstructured":"Malinger G, Paladini D, Haratz KK et al (2020) ISUOG practice guidelines (updated): sonographic examination of the fetal central nervous system. Part 1: performance of screening examination and indications for targeted neurosonography. Ultrasound Obstet Gynecol 56(3):476\u2013484","journal-title":"Ultrasound Obstet Gynecol"},{"key":"6866_CR25","first-page":"1649","volume":"21","author":"X Xiaolei","year":"2019","unstructured":"Xiaolei X, Fuguang L, Weihe T et al (2019) Correlation between fetal cranial nervous system malformation and chromosome abnormality. Chin J Appl Clin Pediatr 21:1649\u20131652","journal-title":"Chin J Appl Clin Pediatr"},{"issue":"3","key":"6866_CR26","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1002\/pd.5212","volume":"38","author":"SB Hay","year":"2018","unstructured":"Hay SB, Sahoo T, Travis MK, Hovanes K, Dzidic N, Doherty C (2018) Strecker 285 MN. ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really 286 sufficient\u202f? [J]. Prenat Diagn 38(3):184\u2013189","journal-title":"Prenat Diagn"},{"key":"6866_CR27","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/426379","volume":"2015","author":"L Sun","year":"2015","unstructured":"Sun L, Wu Q, Jiang SW et al (2015) Prenatal diagnosis of central nervous system anomalies by high-resolution chromosomal microarray analysis[J]. Biomed Res Int 2015:426379","journal-title":"Biomed Res Int"},{"key":"6866_CR28","doi-asserted-by":"publisher","first-page":"870","DOI":"10.1111\/cge.13189","volume":"93","author":"M Ishida","year":"2018","unstructured":"Ishida M, Cullup T, Boustred C et al (2018) A target sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. Clin Genet 93:870\u2013879","journal-title":"Clin Genet"},{"key":"6866_CR29","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1186\/s11689-016-9144-y","volume":"8","author":"M Schumann","year":"2016","unstructured":"Schumann M, Hofmann A, Krutzke SK et al (2016) Array-based molecular karyotyping in fetuses with isolated brain malformation indentifies disease-causing CNVs. J Neurodev Disord 8:11","journal-title":"J Neurodev Disord"},{"issue":"9","key":"6866_CR30","doi-asserted-by":"publisher","first-page":"2201","DOI":"10.1002\/ajmg.a.37143","volume":"167A","author":"K Wong","year":"2015","unstructured":"Wong K, Moldrich R, Hunter M et al (2015) A familial 7q36.3 duplication associated with agenesis of the corpus callosum[J]. Am J Med Genet A 167A(9):2201\u20132208","journal-title":"Am J Med Genet A"},{"issue":"7","key":"6866_CR31","doi-asserted-by":"publisher","first-page":"714","DOI":"10.1016\/j.braindev.2014.10.009","volume":"37","author":"M Mimaki","year":"2015","unstructured":"Mimaki M, Shiihara T, Watanabe M et al (2015) Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: critical region for cerebellar dysgenesis within 13q32.2q34[J]. Brain Dev 37(7):714\u2013718","journal-title":"Brain Dev"},{"issue":"10","key":"6866_CR32","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1002\/pd.3943","volume":"32","author":"Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound","year":"2012","unstructured":"Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound (2012) Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound[J]. Prenat Diagn 32(10):986\u2013995","journal-title":"Prenat Diagn"},{"issue":"1","key":"6866_CR33","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1002\/pd.5829","volume":"41","author":"M Santirocco","year":"2021","unstructured":"Santirocco M, Plaja A, Rod\u00f3 C et al (2021) Chromosomal microarray analysis in fetuses with central nervous system anomalies: an 8-year long observational study from a tertiary care university hospital. Prenat Diagn 41(1):123\u2013135","journal-title":"Prenat Diagn"},{"issue":"10","key":"6866_CR34","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.23434","volume":"34","author":"T Song","year":"2020","unstructured":"Song T, Xu Y, Li Y et al (2020) Detection of submicroscopic chromosomal aberrations by chromosomal microarray analysis for the prenatal diagnosis of central nervous system abnormalities. J Clin Lab Anal 34(10):e23434","journal-title":"J Clin Lab Anal"},{"issue":"14","key":"6866_CR35","doi-asserted-by":"publisher","first-page":"4239","DOI":"10.2147\/IJGM.S323899","volume":"6","author":"X Xie","year":"2021","unstructured":"Xie X, Wu X, Su L et al (2021) Application of single nucleotide polymorphism microarray in prenatal diagnosis of fetuses with central nervous system abnormalities. Int J Gen Med 6(14):4239\u20134246","journal-title":"Int J Gen Med"},{"issue":"8","key":"6866_CR36","doi-asserted-by":"publisher","first-page":"1833","DOI":"10.1002\/ajmg.a.35996","volume":"161A","author":"CJ Curry","year":"2013","unstructured":"Curry CJ, Rosenfeld JA, Grant E et al (2013) The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes[J]. Am J Med Genet A 161A(8):1833\u20131852","journal-title":"Am J Med Genet A"},{"issue":"3","key":"6866_CR37","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1002\/ajmg.c.30270","volume":"154c","author":"K Yamazawa","year":"2010","unstructured":"Yamazawa K, Ogata T, Ferguson-Smith AC (2010) Uniparental djsomy and human disease: an overview[J]. Am J Med Genet C Semin Med Genet 154c(3):329\u2013334","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"2","key":"6866_CR38","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1038\/gim.2012.169","volume":"15","author":"CW Rehder","year":"2013","unstructured":"Rehder CW, David KL, Hirsch B et al (2013) American college of medical genetics and genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing. Genet Med 15(2):150\u2013152","journal-title":"Genet Med"}],"container-title":["Archives of Gynecology and Obstetrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00404-022-06866-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00404-022-06866-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00404-022-06866-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T07:33:45Z","timestamp":1710920025000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00404-022-06866-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,5]]},"references-count":38,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["6866"],"URL":"https:\/\/doi.org\/10.1007\/s00404-022-06866-w","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-1703931\/v1","asserted-by":"object"}]},"ISSN":["1432-0711"],"issn-type":[{"value":"1432-0711","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,5]]},"assertion":[{"value":"30 May 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 November 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 December 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All authors have no relevant financial or non-financial interests to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Approval was granted by the Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (date January 27, 2022\/No. 2021-165-01).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}