{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T07:16:04Z","timestamp":1793085364602,"version":"4.5.0"},"reference-count":45,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,8,16]],"date-time":"2019-08-16T00:00:00Z","timestamp":1565913600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81741004, 81671470, 31801042"],"award-info":[{"award-number":["81741004, 81671470, 31801042"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005847","name":"Health and Medical Research Fund","doi-asserted-by":"publisher","award":["04152666"],"award-info":[{"award-number":["04152666"]}],"id":[{"id":"10.13039\/501100005847","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004000","name":"Guangzhou Science and Technology Program key projects","doi-asserted-by":"publisher","award":["2014 Y2-00551, 201504282321393, 201604020078 , 201604020091"],"award-info":[{"award-number":["2014 Y2-00551, 201504282321393, 201604020078 , 201604020091"]}],"id":[{"id":"10.13039\/501100004000","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2019.00761","type":"journal-article","created":{"date-parts":[[2019,8,16]],"date-time":"2019-08-16T00:14:22Z","timestamp":1565914462000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":73,"title":["Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis"],"prefix":"10.3389","volume":"10","author":[{"given":"Kwong Wai","family":"Choy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huilin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengmeng","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingsi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenjun","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huanchen","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaoyun","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew Hoi Kin","family":"Chau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia Y.M.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne K.","family":"Kwok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanfang","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tak Yeung","family":"Leung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zirui","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2019,8,16]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1002\/ajmg.a.35292","article-title":"Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey","author":"Abe","year":"2012","journal-title":"Am. J. Med. Genet. A."},{"key":"B2","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1159\/000199869","article-title":"Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals","volume":"25","author":"Alpman","year":"2009","journal-title":"Fetal. Diagn. Ther."},{"key":"B3","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/humu.22915","article-title":"Mutation update for COL2A1 gene variants associated with type II collagenopathies","volume":"37","author":"Barat-Houari","year":"2016","journal-title":"Hum. Mutat."},{"key":"B4","doi-asserted-by":"publisher","first-page":"5473","DOI":"10.1073\/pnas.1418631112","volume":"112","author":"Belkadi","year":"2015","journal-title":"Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. Proc. Natl. Acad. Sci. U. S. A."},{"key":"B5","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1038\/nrg.2015.25","article-title":"Mechanisms underlying structural variant formation in genomic disorders","volume":"17","author":"Carvalho","year":"2016","journal-title":"Nat. Rev. Genet."},{"key":"B6","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajog.2019.06.007","article-title":"Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis","volume-title":"Am. J. Obstet. Gynecol.","author":"Chau","year":"2019"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1101\/gr.076166.108","article-title":"Mapping translocation breakpoints by next-generation sequencing","volume":"18","author":"Chen","year":"2008","journal-title":"Genome Res."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1245","DOI":"10.1111\/1471-0528.12873","article-title":"Diagnostic accuracy of the BACs-on-beads assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series","volume":"121","author":"Choy","year":"2014","journal-title":"BJOG"},{"key":"B9","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1159\/000350686","article-title":"Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients","volume":"4","author":"Croonen","year":"2013","journal-title":"Mol. Syndromol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1002\/humu.22541","article-title":"A robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencing","volume":"35","author":"Dong","year":"2014","journal-title":"Hum. Mutat."},{"key":"B11","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1038\/gim.2017.170","article-title":"Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics","volume":"20","author":"Dong","year":"2018","journal-title":"Genet. Med."},{"key":"B12","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/cphg.43","article-title":"Copy-number variants detection by low-pass whole-genome sequencing","volume":"94","author":"Dong","year":"2017","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"B13","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/cphg.51","article-title":"Balanced chromosomal rearrangement detection by low-pass whole-genome sequencing","volume":"96","author":"Dong","year":"2018","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"B14","doi-asserted-by":"publisher","first-page":"940","DOI":"10.1038\/gim.2015.199","article-title":"Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach","volume":"18","author":"Dong","year":"2016","journal-title":"Genet. Med."},{"key":"B15","doi-asserted-by":"crossref","DOI":"10.1093\/dnares\/dsz011","article-title":"Development of coupling controlled polymerizations by adapter-ligation in mate-pair sequencing for detection of various genomic variants in one single assay","volume-title":"DNA Res.","author":"Dong","year":"2019"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1002\/pd.4675","article-title":"Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities","volume":"35","author":"Drury","year":"2015","journal-title":"Prenat. Diagn."},{"key":"B17","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1002\/uog.18915","article-title":"Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities","volume":"51","author":"Fu","year":"2018","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"B18","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1186\/s12864-017-3658-x","article-title":"Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans","volume":"18","author":"Haraksingh","year":"2017","journal-title":"BMC Genomics"},{"key":"B19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/gigascience\/gix024","article-title":"A reference human genome dataset of the BGISEQ-500 sequencer","volume":"6","author":"Huang","year":"2017","journal-title":"Gigascience"},{"key":"B20","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1002\/uog.13384","article-title":"Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH","volume":"43","author":"Huang","year":"2014","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1186\/s12920-018-0409-z","article-title":"Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)","volume":"11","author":"Leung","year":"2018","journal-title":"BMC Med. Genomics"},{"key":"B22","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1002\/uog.8988","article-title":"Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype","volume":"38","author":"Leung","year":"2011","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"B23","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows\u2013Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"B24","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"B25","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.ajhg.2017.01.004","article-title":"InterVar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines","volume":"100","author":"Li","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"B26","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1002\/pd.5245","article-title":"Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions","volume":"38","author":"Lin","year":"2018","journal-title":"Prenat. Diagn."},{"key":"B27","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1016\/j.jcma.2015.03.010","article-title":"Improved assay performance of single nucleotide polymorphism array over conventional karyotyping in analyzing products of conception","volume":"78","author":"Lin","year":"2015","journal-title":"J. Chin. Med. Assoc."},{"key":"B28","doi-asserted-by":"crossref","DOI":"10.1038\/s41436-018-0377-x","article-title":"TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model","volume-title":"Genet. Med.","author":"Liu","year":"2019"},{"key":"B29","doi-asserted-by":"publisher","first-page":"2478","DOI":"10.1056\/NEJMc1812033","article-title":"Reanalysis of clinical exome sequencing data","volume":"380","author":"Liu","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"B30","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1016\/S0140-6736(18)31940-8","article-title":"Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study","volume":"393","author":"Lord","year":"2019","journal-title":"Lancet"},{"key":"B31","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"Mckenna","year":"2010","journal-title":"Genome Res."},{"key":"B32","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1186\/s13073-018-0582-x","article-title":"Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder","volume":"10","author":"Normand","year":"2018","journal-title":"Genome Med."},{"key":"B33","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1136\/jmg.2008.057653","article-title":"Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders","volume":"45","author":"Nystrom","year":"2008","journal-title":"J. Med. Genet."},{"key":"B34","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1016\/S0140-6736(18)32042-7","article-title":"Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study","volume":"393","author":"Petrovski","year":"2019","journal-title":"Lancet"},{"key":"B35","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1016\/j.pcad.2012.06.002","article-title":"Arrhythmias in pulmonary arterial hypertension","volume":"55","author":"Rajdev","year":"2012","journal-title":"Prog. Cardiovasc. Dis."},{"key":"B36","doi-asserted-by":"publisher","first-page":"444","DOI":"10.5468\/ogs.2016.59.6.444","article-title":"Quantitative fluorescent polymerase chain reaction for rapid prenatal diagnosis of fetal aneuploidies in chorionic villus sampling in a single institution","volume":"59","author":"Shin","year":"2016","journal-title":"Obstet. Gynecol. Sci."},{"key":"B37","doi-asserted-by":"crossref","DOI":"10.1002\/uog.20352","article-title":"Increased nuchal translucency: results from microarray and RASopathy disorders testing","volume-title":"Ultrasound Obstet. Gynecol.","author":"Sinajon","year":"2019"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000007521","article-title":"Increased nuchal translucency in fetuses with a normal karyotype-diagnosis and management: an observational study","volume":"96","author":"Socolov","year":"2017","journal-title":"Medicine (Baltimore)"},{"key":"B39","doi-asserted-by":"publisher","first-page":"2226","DOI":"10.1056\/NEJMoa1208594","article-title":"Clinical diagnosis by whole-genome sequencing of a prenatal sample","volume":"367","author":"Talkowski","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"B40","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1016\/j.cell.2012.03.028","article-title":"Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries","volume":"149","author":"Talkowski","year":"2012","journal-title":"Cell"},{"key":"B41","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1186\/1471-2164-14-257","article-title":"Improving mammalian genome scaffolding using large insert mate-pair next-generation sequencing","volume":"14","author":"Van Heesch","year":"2013","journal-title":"BMC Genomics"},{"key":"B42","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1002\/pd.5375","article-title":"Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: results from 5026 pregnancies","volume":"39","author":"Wang","year":"2019","journal-title":"Prenat. Diagn."},{"key":"B43","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"B44","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1056\/NEJMoa1406829","article-title":"TBX6 null variants and a common hypomorphic allele in congenital scoliosis","volume":"372","author":"Wu","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"B45","doi-asserted-by":"publisher","first-page":"194","DOI":"10.3109\/14767058.2016.1168394","article-title":"Submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency and normal karyotype","volume":"30","author":"Yang","year":"2017","journal-title":"J. Matern. Fetal. Neonatal. Med."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2019.00761\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,22]],"date-time":"2019-09-22T05:39:28Z","timestamp":1569130768000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2019.00761\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,16]]},"references-count":45,"alternative-id":["10.3389\/fgene.2019.00761"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2019.00761","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/667311","asserted-by":"object"}]},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,16]]},"article-number":"761"}}