{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:01:08Z","timestamp":1773270068658,"version":"3.50.1"},"reference-count":51,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,11,20]],"date-time":"2019-11-20T00:00:00Z","timestamp":1574208000000},"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","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2019.01162","type":"journal-article","created":{"date-parts":[[2019,11,20]],"date-time":"2019-11-20T04:53:11Z","timestamp":1574225591000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":16,"title":["A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings"],"prefix":"10.3389","volume":"10","author":[{"given":"Hongyan","family":"Chai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Autumn","family":"DiAdamo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brittany","family":"Grommisch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qinghua","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiadi","family":"Wen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurice","family":"Mahoney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allen","family":"Bale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"McGrath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Spencer-Manzon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peining","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2019,11,20]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1161","DOI":"10.1097\/AOG.0b013e3181c33cad","article-title":"array comparative genomic hybridization in prenatal diagnosis","volume":"114","year":"2009","journal-title":"Obstet. Gynecol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/1755-8166-6-16","article-title":"Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years\u2019 clinical application for over 8,700 patients","volume":"6","author":"Ahn","year":"2013","journal-title":"Mol. Cytogenet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1002\/pd.4054","article-title":"Nearly a third of abnormalities found after first-trimester screening are different than expected: 10- year experience from a single center","volume":"33","author":"Alamillo","year":"2013","journal-title":"Prenat. Diagn."},{"key":"B4","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1002\/uog.12513","article-title":"Non-invasive prenatal testing for aneuploidy: current status and future prospects","volume":"42","author":"Benn","year":"2013","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"3455","DOI":"10.1073\/pnas.0712361105","article-title":"A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism","volume":"105","author":"Brownstein","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B6","doi-asserted-by":"publisher","first-page":"16","DOI":"10.3390\/medsci7020016","article-title":"Integrated FISH, karyotyping and aCGH analyses for effective prenatal diagnosis of common aneuploidies and other cytogenomic abnormalities","volume":"7","author":"Chai","year":"2019","journal-title":"Med. Sci."},{"key":"B7","doi-asserted-by":"publisher","first-page":"e262","DOI":"10.1097\/AOG.0000000000001817","article-title":"Committee opinion No.682: Microarrays and next-generation sequencing technology: The use of advanced genetic diagnostic tools in obstetrics and gynecology","volume":"128","year":"2016","journal-title":"Obstet. Gynecol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"176","DOI":"10.7156\/najms.2014.0704176","article-title":"Prenatal diagnosis of Xq26.1-q26.3 duplication in two fetuses of a woman with gonadal mosaicism","volume":"7","author":"Cook","year":"2014","journal-title":"N. Am. J. Med. Sci."},{"key":"B9","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1016\/j.mgene.2016.08.008","article-title":"Familial GPC3 and GPC4-TFDP3 deletions at Xq26 associated with Simpson-Golabi-Behmel syndrome","volume":"11","author":"DiMaio","year":"2017","journal-title":"Meta Gene"},{"key":"B10","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1038\/s10038-018-0451-x","article-title":"An estimation of the prevalence of genomic disorders using chromosomal microarray data","volume":"63","author":"Gillentine","year":"2018","journal-title":"J. Hum. Genet."},{"key":"B11","first-page":"1207","article-title":"Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2)","volume":"49","author":"Greenberg","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1002\/uog.15754","article-title":"Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome","volume":"47","author":"Gross","year":"2016","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1002\/uog.12464","article-title":"Use of prenatal microarray: prospective cohort study and systematic review and meta-analysis","volume":"41","author":"Hillman","year":"2013","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1002\/pd.2802","article-title":"Detection rate of quadruple-maker screening determined by clinical follow-up and registry datain the statewide California program, July 2007 to February 2009","volume":"31","author":"Kazerouni","year":"2011","journal-title":"Prenat. Diagn."},{"key":"B15","doi-asserted-by":"publisher","first-page":"680","DOI":"10.1097\/GIM.0b013e3182217a3a","article-title":"American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants","volume":"13","author":"Kearney","year":"2011","journal-title":"Genet. Med."},{"key":"B16","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1002\/ajmg.1320590331","article-title":"On the prevalence of Angelman syndrome","volume":"59","author":"Kyllerman","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"B17","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1002\/ajmg.a.34043","article-title":"Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization","author":"Li","year":"2011","journal-title":"Am. J. Med. Genet."},{"key":"B18","doi-asserted-by":"publisher","first-page":"136","DOI":"10.7156\/najms.2016.0904136","article-title":"Diagnostic yield of cytogenomic abnormalities in current prenatal diagnosis: a retrospective analysis in a clinical cytogenetics laboratory","volume":"9","author":"Li","year":"2016","journal-title":"N. Am. J. Med. Sci."},{"key":"B19","doi-asserted-by":"publisher","first-page":"742","DOI":"10.1097\/GIM.0b013e3181f8baad","article-title":"Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities","volume":"12","author":"Manning","year":"2010","journal-title":"Genet. Med."},{"key":"B20","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1111\/cge.13098","article-title":"Clinical experience with a single-nucleotide polymorphism-based non-invasive prenatal test for five clinically significant microdeletions","volume":"93","author":"Martin","year":"2018","journal-title":"Clin. Genet."},{"key":"B21","doi-asserted-by":"publisher","first-page":"1942","DOI":"10.12659\/MSM.893870","article-title":"Changes in and efficacies od indications for invasive prenatal diagnosis of cytogenomic abnormalities: 13 years of experience in a single center","volume":"21","author":"Meng","year":"2015","journal-title":"Med. Sci. Monit."},{"key":"B22","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1016\/S0960-8966(97)00100-4","article-title":"Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland","volume":"7","author":"Meretoja","year":"1997","journal-title":"Neuromuscul. Disord."},{"key":"B23","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller.","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"B24","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1038\/ng0996-86","article-title":"A complete set of human telomeric probes and their clinical application","volume":"14","author":"Ning","year":"1996","journal-title":"Nat. Genet."},{"key":"B25","first-page":"76","volume-title":"Thompson & Thompson Genetics in Medicine.","author":"Nussbaum","year":"2007"},{"key":"B26","doi-asserted-by":"publisher","first-page":"1015","DOI":"10.1016\/j.ajhg.2016.08.022","article-title":"Structural chromosomal rearrangements require nucleotide- level resolution: Lessons from next-generation sequencing in prenatal diagnosis","volume":"99","author":"Ordulu","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"B27","doi-asserted-by":"publisher","first-page":"1936","DOI":"10.1002\/ajmg.a.31423","article-title":"Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented","author":"Oiglane-Shlik","year":"2006","journal-title":"Am. J. Med. Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1186\/1755-8166-6-21","article-title":"The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns","volume":"6","author":"Park","year":"2013","journal-title":"Mol. Cytogenet."},{"key":"B29","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1093\/hmg\/1.5.307","article-title":"Multicolor fluorescence in situ hybridization for the simultaneous detection of probe sets for chromosomes 13, 18, 21, X and Y in uncultured amniotic fluid cells","volume":"5","author":"Ried","year":"1992","journal-title":"Hum. Mol. Genet."},{"key":"B30","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1097\/01.gim.0000186545.83160.1e","article-title":"American College of Medical Genetics Professional Practice and Guidelines Committee, American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation","volume":"7","author":"Shaffer","year":"2005","journal-title":"Genet. Med."},{"key":"B31","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1002\/ddrr.2","article-title":"Velo-cardio-facial syndrome: 30 Years of study","volume":"14","author":"Shprintzen","year":"2008","journal-title":"Dev. Disabil. Res. Rev."},{"key":"B32","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1016\/j.clinbiochem.2004.03.006","article-title":"Historical prospective of human cytogenetics: from microscope to microarray","volume":"37","author":"Smeets","year":"2004","journal-title":"Clin. Biochem."},{"key":"B33","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1038\/gim.2013.129","article-title":"ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013","volume":"15","author":"South","year":"2013","journal-title":"Genet. Med."},{"key":"B34","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1038\/ejhg.2015.193","article-title":"Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs","volume":"24","author":"Srebniak","year":"2016","journal-title":"Eu. J. Hum. Genet."},{"key":"B35","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1002\/uog.17533","article-title":"Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta-analysis","volume":"51","author":"Srebniak","year":"2018","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"B36","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nature12818","article-title":"CNVs conferring risk of autism or schizophrenia affect cognition in controls","volume":"50","author":"Stefansson","year":"2014","journal-title":"Nat."},{"key":"B37","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1177\/088307380201700406","article-title":"Prevalence estimation of Williams syndrome","volume":"17","author":"Str\u00f8mme","year":"2002","journal-title":"J. Child Neurol."},{"key":"B38","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1097\/MOP.0b013e3280105417","article-title":"Genomic microarrays in clinical diagnosis","volume":"18","author":"Veltman","year":"2006","journal-title":"Curr. Opin. Pediatr."},{"key":"B39","doi-asserted-by":"publisher","first-page":"1105","DOI":"10.1038\/s41436-018-0040-6","article-title":"Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"20","author":"Waggoner","year":"2018","journal-title":"Genet. Med."},{"key":"B40","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":"B41","doi-asserted-by":"publisher","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","article-title":"Chromosomal microarray versus karyotyping for prenatal diagnosis","volume":"367","author":"Wapner","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"B42","doi-asserted-by":"publisher","first-page":"e9","DOI":"10.1016\/j.ajog.2014.11.041","article-title":"Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion synfrome","volume":"212","author":"Wapner","year":"2015","journal-title":"Am. J. Obstet. Gynecol."},{"key":"B43","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jgg.2012.12.004","article-title":"Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetic evaluation","volume":"40","author":"Wei","year":"2013","journal-title":"J. Genet. Genomics"},{"key":"B44","first-page":"168","article-title":"CytoAccess: A relational laboratory information management system for a clinical cytogenetics laboratory","volume":"32","author":"Xiang","year":"2006","journal-title":"J. Assoc. Genet. Technol."},{"key":"B45","doi-asserted-by":"publisher","first-page":"1942","DOI":"10.1002\/ajmg.a.32411","article-title":"Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay","author":"Xiang","year":"2008","journal-title":"Am. J. Med. Genet."},{"key":"B46","doi-asserted-by":"publisher","first-page":"204","DOI":"10.2353\/jmoldx.2010.090115","article-title":"Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases","volume":"12","author":"Xiang","year":"2010","journal-title":"J. Mol. Diagn."},{"key":"B47","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1186\/1755-8166-7-4","article-title":"Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability","volume":"7","author":"Xu","year":"2014","journal-title":"Mol. Cytogenet."},{"key":"B48","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1080\/14737159.2019.1613154","article-title":"Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy","volume":"19","author":"Xu","year":"2019","journal-title":"Expert Rev. Mol. Diagn."},{"key":"B49","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1186\/s13039-014-0084-5","article-title":"Multiplex ligationdependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities","volume":"7","author":"Xu","year":"2014","journal-title":"Mol. Cytogenet."},{"key":"B50","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1016\/j.ajhg.2017.06.011","article-title":"Computational prediction of position effects of apparently balanced human chromosomal rearrangements","volume":"101","author":"Zepeda-Mendoza","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"B51","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.jgg.2016.02.002","article-title":"Spectrum of cytogenomic abnormalities revealed by array comparative genomic hybridization in products of conception culture failure and normal karyotype samples","volume":"43","author":"Zhou","year":"2016","journal-title":"J. Genet. Genomics"}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2019.01162\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,3]],"date-time":"2019-12-03T11:31:55Z","timestamp":1575372715000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2019.01162\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,20]]},"references-count":51,"alternative-id":["10.3389\/fgene.2019.01162"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2019.01162","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,20]]},"article-number":"1162"}}