{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:14:52Z","timestamp":1792167292775,"version":"4.4.0"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2014,2,5]],"date-time":"2014-02-05T00:00:00Z","timestamp":1391558400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Assist Reprod Genet"],"published-print":{"date-parts":[[2014,5]]},"DOI":"10.1007\/s10815-014-0182-7","type":"journal-article","created":{"date-parts":[[2014,2,4]],"date-time":"2014-02-04T04:36:26Z","timestamp":1391488586000},"page":"589-594","source":"Crossref","is-referenced-by-count":3,"title":["Placental mosaicism for Trisomy 13: a challenge in providing the cell-free fetal DNA testing"],"prefix":"10.1007","volume":"31","author":[{"given":"Xiang-Yin","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-Guo","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui-Xue","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Wei","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui-Zhi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,2,5]]},"reference":[{"key":"182_CR1","doi-asserted-by":"crossref","first-page":"2556","DOI":"10.1056\/NEJMcp0900134","volume":"360","author":"DA Driscoll","year":"2009","unstructured":"Driscoll DA, Gross S. Clinical practice. Prenatal screening for aneuploidy. N Engl J Med. 2009;360:2556\u201362.","journal-title":"N Engl J Med"},{"key":"182_CR2","doi-asserted-by":"crossref","first-page":"c7401","DOI":"10.1136\/bmj.c7401","volume":"342","author":"RW Chiu","year":"2011","unstructured":"Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ. 2011;342:c7401.","journal-title":"BMJ"},{"key":"182_CR3","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1097\/01.AOG.0000291570.63450.44","volume":"110","author":"American College of Obstetricians and Gynecologists","year":"2007","unstructured":"American College of Obstetricians and Gynecologists. ACOG practice bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110:1459\u201367.","journal-title":"Obstet Gynecol"},{"key":"182_CR4","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1097\/01.AOG.0000278820.54029.e3","volume":"110","author":"F Mujezinovic","year":"2007","unstructured":"Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol. 2007;110:687\u201394.","journal-title":"Obstet Gynecol"},{"key":"182_CR5","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1002\/pd.3866","volume":"32","author":"JK Morris","year":"2012","unstructured":"Morris JK, Waters JJ, de Souza E. The population impact of screening for Down syndrome: audit of 19326 Invasive diagnostic tests in England and Wales in 2008. Prenat Diagn. 2012;32:596\u2013601.","journal-title":"Prenat Diagn"},{"key":"182_CR6","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1002\/ajmg.c.30114","volume":"145C","author":"LG Shaffer","year":"2007","unstructured":"Shaffer LG, Bui TH. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet C: Semin Med Genet. 2007;145C:87\u201398.","journal-title":"Am J Med Genet C: Semin Med Genet"},{"key":"182_CR7","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.tig.2012.10.013","volume":"29","author":"L Hui","year":"2013","unstructured":"Hui L, Bianchi DW. Recent advances in the prenatal interrogation of the human fetal genome. Trends. 2013;29:84\u201391.","journal-title":"Trends"},{"key":"182_CR8","first-page":"1","volume":"6","author":"AB Sparks","year":"2012","unstructured":"Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C, et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn. 2012;6:1\u20137.","journal-title":"Prenat Diagn"},{"issue":"319","key":"182_CR9","first-page":"e1","volume":"206","author":"AB Sparks","year":"2012","unstructured":"Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;206(319):e1\u20139.","journal-title":"Am J Obstet Gynecol"},{"issue":"322","key":"182_CR10","first-page":"e1","volume":"206","author":"G Ashoor","year":"2012","unstructured":"Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;206(322):e1\u20135.","journal-title":"Am J Obstet Gynecol"},{"key":"182_CR11","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/pd.4103","volume":"33","author":"KH Nicolaides","year":"2013","unstructured":"Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn. 2013;33:575\u20139.","journal-title":"Prenat Diagn"},{"key":"182_CR12","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1002\/pd.4076","volume":"33","author":"TK Lau","year":"2013","unstructured":"Lau TK, Jiang FM, Stevenson RJ, Lo TK, Chan LW, Chan MK, et al. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat Diagn. 2013;33:602\u20138.","journal-title":"Prenat Diagn"},{"key":"182_CR13","unstructured":"American College of Obstetricians and Gynecologists. First-trimester screening for fetal aneuploidy; ACOG committee opinion no. 296.Washington, DC: The College; 2004."},{"key":"182_CR14","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1002\/pd.4125","volume":"33","author":"S Chetty","year":"2013","unstructured":"Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn. 2013;33:542\u20136.","journal-title":"Prenat Diagn"},{"key":"182_CR15","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1515\/cclm-2012-0601","volume":"51","author":"RW Chiu","year":"2013","unstructured":"Chiu RW, Lo YM. Clinical applications of maternal plasma fetal DNA analysis: translating the fruits of 15 years of research. Clin Chem Lab Med. 2013;51:197\u2013204.","journal-title":"Clin Chem Lab Med"},{"key":"182_CR16","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1086\/301800","volume":"62","author":"YM Lo","year":"1998","unstructured":"Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet. 1998;62:768\u201375.","journal-title":"Am J Hum Genet"},{"key":"182_CR17","first-page":"1","volume":"16","author":"JA Canick","year":"2013","unstructured":"Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn. 2013;16:1\u20138.","journal-title":"Prenat Diagn"},{"issue":"Suppl 1","key":"182_CR18","doi-asserted-by":"crossref","first-page":"S19","DOI":"10.1517\/14712598.2012.670632","volume":"12","author":"BH Faas","year":"2012","unstructured":"Faas BH, de Ligt J, Janssen I, Eggink AJ, Wijnberger LD, van Vugt JM, et al. Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells. Expert Opin Biol Ther. 2012;12 Suppl 1:S19\u201326.","journal-title":"Expert Opin Biol Ther"},{"key":"182_CR19","doi-asserted-by":"crossref","first-page":"e21791","DOI":"10.1371\/journal.pone.0021791","volume":"6","author":"EZ Chen","year":"2011","unstructured":"Chen EZ, Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One. 2011;6:e21791.","journal-title":"PLoS One"},{"key":"182_CR20","author":"MT Mennuti","year":"2013","unstructured":"Mennuti MT, Cherry AM, Morrissette JJ, Dugoff L. Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? Am J Obstet Gynecol. 2013. doi: 10.1016\/j.ajog. 2013.03.027 .","journal-title":"Am J Obstet Gynecol"},{"key":"182_CR21","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/S0025-6196(11)63644-6","volume":"73","author":"SM Jalal","year":"1998","unstructured":"Jalal SM, Law ME, Carlson RO, Dewald GW. Prenatal detection of aneuploidy by directly labeled multicolored probes and interphase fluoresence in situ hybridization. Mayo Clin Proc. 1998;73:132\u20137.","journal-title":"Mayo Clin Proc"},{"key":"182_CR22","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1002\/(SICI)1096-8628(19991126)87:3<203::AID-AJMG2>3.0.CO;2-C","volume":"87","author":"A Aviram-Goldring","year":"1999","unstructured":"Aviram-Goldring A, Daniely M, Dorf H, Chaki R, Goldman B, Barkai G. Use of interphase fluorescence in situ hybridization in third trimester fetuses with anomalies and growth retardation. Am J Med Genet. 1999;87:203\u20136.","journal-title":"Am J Med Genet"},{"key":"182_CR23","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.ijgo.2006.11.005","volume":"96","author":"AM Wray","year":"2007","unstructured":"Wray AM, Landy HJ, Meck JM. Patient decisions regarding prenatal aneuploid fluorescence in situ hybridization results. Int J Gynaecol Obstet. 2007;96:103\u20137.","journal-title":"Int J Gynaecol Obstet"},{"key":"182_CR24","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1002\/pd.2340","volume":"29","author":"NB Tsui","year":"2009","unstructured":"Tsui NB, Wong BC, Leung TY, Lau TK, Chiu RW, Lo YM. Non-invasive prenatal detection of fetal trisomy 18 by RNA-SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study. Prenat Diagn. 2009;29:1031\u20137.","journal-title":"Prenat Diagn"},{"key":"182_CR25","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1373\/clinchem.2009.134114","volume":"56","author":"YK Tong","year":"2010","unstructured":"Tong YK, Jin S, Chiu RW, Ding C, Chan KC, Leung TY, et al. Non-invasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach. Clin Chem. 2010;56:90\u20138.","journal-title":"Clin Chem"},{"issue":"205","key":"182_CR26","first-page":"e1","volume":"204","author":"M Ehrich","year":"2011","unstructured":"Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, et al. Non-invasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011;204(205):e1\u2013e11.","journal-title":"Am J Obstet Gynecol"},{"key":"182_CR27","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1097\/01.AOG.0000423819.85283.f4","volume":"120","author":"American College of Obstetricians and Gynecologists Committee on Genetics","year":"2012","unstructured":"American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 545: non-invasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012;120:1532\u20134.","journal-title":"Obstet Gynecol"},{"key":"182_CR28","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/uog.12513","volume":"42","author":"P Benn","year":"2013","unstructured":"Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol. 2013;42:15\u201333. doi: 10.1002\/uog.12513 .","journal-title":"Ultrasound Obstet Gynecol"},{"key":"182_CR29","doi-asserted-by":"crossref","first-page":"182","DOI":"10.4103\/1947-2714.109180","volume":"5","author":"D Madhusudan","year":"2013","unstructured":"Madhusudan D, Sumedha S, Sumita A. Prenatal Screening Methods for Aneuploidies. N Am J Med Sci. 2013;5:182\u201390. doi: 10.4103\/1947-2714.109180 .","journal-title":"N Am J Med Sci"},{"key":"182_CR30","first-page":"2","volume":"41","author":"L Hui","year":"2013","unstructured":"Hui L. Non-invasive prenatal testing for fetal aneuploidy: charting the course from clinical validity to clinical utility. Ultrasound. 2013;41:2\u20136.","journal-title":"Ultrasound"},{"key":"182_CR31","doi-asserted-by":"crossref","first-page":"20458","DOI":"10.1073\/pnas.0810641105","volume":"105","author":"RW Chiu","year":"2008","unstructured":"Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008;105:20458\u201363.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"182_CR32","author":"AL Hall","year":"2013","unstructured":"Hall AL, Drendel HM, Verbrugge JL, Reese AM, Schumacher KL, Griffith CB, et al. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genet Med. 2013. doi: 10.1038\/gim.2013.26 .","journal-title":"Genet Med"},{"key":"182_CR33","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1093\/humrep\/deh117","volume":"19","author":"E Flori","year":"2004","unstructured":"Flori E, Doray B, Gautier E, Kohler M, Ernault P, Flori J, et al. Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells.Case report. Hum Reprod. 2004;19:723\u20134.","journal-title":"Hum Reprod"},{"issue":"Suppl","key":"182_CR34","doi-asserted-by":"crossref","first-page":"S93","DOI":"10.1016\/j.placenta.2004.01.005","volume":"25","author":"DW Bianchi","year":"2004","unstructured":"Bianchi DW. Circulating fetal DNA: its origin and diagnostic potential-a review. Placenta. 2004;25(Suppl):S93\u2013S101.","journal-title":"Placenta"},{"key":"182_CR35","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/pd.1700","volume":"27","author":"M Alberry","year":"2007","unstructured":"Alberry M, Maddocks D, Jones M, Abdel Hadi M, Abdel-Fattah S, Avent N, et al. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn. 2007;27:415\u20138.","journal-title":"Prenat Diagn"},{"key":"182_CR36","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1196\/annals.1448.050","volume":"1137","author":"PB Gahan","year":"2008","unstructured":"Gahan PB, Swaminathan R. Circulating nucleic acids in plasma and serum. Recent developments. Ann N Y Acad Sci. 2008;1137:1\u20136.","journal-title":"Ann N Y Acad Sci"},{"key":"182_CR37","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.molmed.2013.01.001","volume":"19","author":"M Rosner","year":"2013","unstructured":"Rosner M, Hengstschl\u00e4ger M. Amniotic fluid stem cells and fetal cell microchimerism. Trends Mol Med. 2013;19:271\u20132.","journal-title":"Trends Mol Med"},{"key":"182_CR38","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1136\/jmg.33.7.529","volume":"33","author":"DK Kalousek","year":"1996","unstructured":"Kalousek DK, Vekemans M. Confined placental mosaicism. J Med Genet. 1996;33:529\u201333.","journal-title":"J Med Genet"},{"issue":"4611","key":"182_CR39","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1126\/science.6867735","volume":"221","author":"DK Kalousek","year":"1983","unstructured":"Kalousek DK, Dill FJ. Chromosomal mosaicism confined to the placenta in human conceptions. Science. 1983;221(4611):665\u20137.","journal-title":"Science"},{"issue":"1 Suppl","key":"182_CR40","first-page":"2S70","volume":"31","author":"G Viot","year":"2002","unstructured":"Viot G. Confined placental mosaicism: definition, consequences and outcome. J Gynecol Obstet Biol Reprod. 2002;31(1 Suppl):2S70\u20134.","journal-title":"J Gynecol Obstet Biol Reprod"},{"key":"182_CR41","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1016\/S0002-9378(96)70312-5","volume":"174","author":"OP Phillips","year":"1996","unstructured":"Phillips OP, Tharapel AT, Lerner JL, Park VM, Wachtel SS, Shulman LP. Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling. Am J Obstet Gynecol. 1996;174:850\u20135.","journal-title":"Am J Obstet Gynecol"},{"key":"182_CR42","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1053\/j.semperi.2006.01.003","volume":"29","author":"RJ Wapner","year":"2005","unstructured":"Wapner RJ. Invasive prenatal diagnostic techniques. Semin Perinatol. 2005;29:401\u20134.","journal-title":"Semin Perinatol"},{"key":"182_CR43","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.placenta.2011.11.024","volume":"33","author":"E Chan Wong","year":"2012","unstructured":"Chan Wong E, Hatakeyama C, Minor A, Ma S. Investigation of confined placental mosaicism by CGH in IVF and ICSI pregnancies. Placenta. 2012;33:202\u20136.","journal-title":"Placenta"},{"key":"182_CR44","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1002\/pd.3965","volume":"32","author":"GM Baffero","year":"2012","unstructured":"Baffero GM, Somigliana E, Crovetto F, Paffoni A, Persico N, Guerneri S, et al. Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome. Prenat Diagn. 2012;32:1102\u20138.","journal-title":"Prenat Diagn"},{"key":"182_CR45","doi-asserted-by":"crossref","first-page":"1155","DOI":"10.1002\/pd.2631","volume":"30","author":"J Toutain","year":"2010","unstructured":"Toutain J, Labeau-Ga\u00fczere C, Barnetche T, Horovitz J, Saura R. Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3. Prenat Diagn. 2010;30:1155\u201364.","journal-title":"Prenat Diagn"},{"key":"182_CR46","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1097\/AOG.0b013e318251e499","volume":"119","author":"JL Simpson","year":"2012","unstructured":"Simpson JL. Is cell-free fetal DNA from maternal blood finally ready for prime time? Obstet Gynecol. 2012;119:883\u20135.","journal-title":"Obstet Gynecol"},{"key":"182_CR47","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1038\/nm0311-250","volume":"17","author":"C Wright","year":"2011","unstructured":"Wright C, Quake SR, Bianchi D, Wald NJ. Community corner: opening the Pandora\u2019s box of prenatal genetic testing. Nat Med. 2011;17:250\u20131.","journal-title":"Nat Med"}],"container-title":["Journal of Assisted Reproduction and Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-014-0182-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10815-014-0182-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-014-0182-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,25]],"date-time":"2022-03-25T06:25:26Z","timestamp":1648189526000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10815-014-0182-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,5]]},"references-count":47,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["182"],"URL":"https:\/\/doi.org\/10.1007\/s10815-014-0182-7","relation":{},"ISSN":["1058-0468","1573-7330"],"issn-type":[{"value":"1058-0468","type":"print"},{"value":"1573-7330","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,5]]}}}