{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T20:55:59Z","timestamp":1791665759885,"version":"4.3.4"},"reference-count":161,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2016,9,15]],"date-time":"2016-09-15T00:00:00Z","timestamp":1473897600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Rev Genet"],"published-print":{"date-parts":[[2016,10]]},"DOI":"10.1038\/nrg.2016.97","type":"journal-article","created":{"date-parts":[[2016,9,15]],"date-time":"2016-09-15T02:16:33Z","timestamp":1473905793000},"page":"643-656","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":177,"title":["Prenatal and pre-implantation genetic diagnosis"],"prefix":"10.1038","volume":"17","author":[{"given":"Joris Robert","family":"Vermeesch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Voet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,9,15]]},"reference":[{"key":"BFnrg201697_CR1","doi-asserted-by":"crossref","unstructured":"1000 Genomes Project Consortium et al. A global reference for human genetic variation. Nature 526, 68\u201374 (2015).","DOI":"10.1038\/nature15393"},{"key":"BFnrg201697_CR2","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1056\/NEJMcp1005330","volume":"363","author":"DW Branch","year":"2010","unstructured":"Branch, D. W., Gibson, M. & Silver, R. M. Clinical practice. Recurrent miscarriage. N. Engl. J. Med. 363, 1740\u20131747 (2010).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR3","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/0959-437X(93)90111-2","volume":"3","author":"T Hassold","year":"1993","unstructured":"Hassold, T., Hunt, P. A. & Sherman, S. Trisomy in humans: incidence, origin and etiology. Curr. Opin. Genet. Dev. 3, 398\u2013403 (1993).","journal-title":"Curr. Opin. Genet. Dev."},{"key":"BFnrg201697_CR4","unstructured":"Mathews, T. J., Hamilton, B. E. First births to older women continue to rise. (NCHS Data Brief 152) CDC.gov http:\/\/www.cdc.gov\/nchs\/data\/databriefs\/db152.htm (May 2014)."},{"key":"BFnrg201697_CR5","unstructured":"Statistics explained. Fertility statistics. Eurostat http:\/\/ec.europa.eu\/eurostat\/statistics-explained\/index.php\/Fertility_statistics (updated 17 March 2016)."},{"key":"BFnrg201697_CR6","doi-asserted-by":"crossref","first-page":"e0140779","DOI":"10.1371\/journal.pone.0140779","volume":"10","author":"M Chen","year":"2015","unstructured":"Chen, M., Wei, S., Hu, J. & Quan, S. Can comprehensive chromosome screening technology improve IVF\/ICSI outcomes? A meta-analysis. PLoS ONE 10, e0140779 (2015).","journal-title":"PLoS ONE"},{"key":"BFnrg201697_CR7","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/S0140-6736(66)91387-0","volume":"1","author":"MW Steel","year":"1966","unstructured":"Steel, M. W. & Breg, W. R. Chromosome analysis of human amniotic fluid cells. Lancet 1, 383\u2013385 (1966).","journal-title":"Lancet"},{"key":"BFnrg201697_CR8","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/0002-9378(67)90395-X","volume":"99","author":"CB Jacobson","year":"1967","unstructured":"Jacobson, C. B. & Barter, R. H. Intrauterine diagnosis and management of genetic defects. Am. J. Obstet. Gynecol. 99, 796\u2013807 (1967).","journal-title":"Am. J. Obstet. Gynecol."},{"key":"BFnrg201697_CR9","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1002\/pd.1970141306","volume":"14","author":"J Philip","year":"1994","unstructured":"Philip, J., Bryndorf, T. & Christensen, B. Prenatal aneuploidy detection in interphase cells by fluorescence in situ hybridization (FISH). Prenat. Diagn. 14, 1203\u20131215 (1994).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR10","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1093\/hmg\/2.1.43","volume":"2","author":"ES Mansfield","year":"1993","unstructured":"Mansfield, E. S. Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum. Mol. Genet. 2, 43\u201350 (1993).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrg201697_CR11","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1093\/nar\/gnf056","volume":"30","author":"JP Schouten","year":"2002","unstructured":"Schouten, J. P. et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30, e57 (2002).","journal-title":"Nucleic Acids Res."},{"key":"BFnrg201697_CR12","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1136\/jmg.2005.039453","volume":"43","author":"B Menten","year":"2006","unstructured":"Menten, B. et al. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J. Med. Genet. 43, 625\u2013633 (2006).","journal-title":"J. Med. Genet."},{"key":"BFnrg201697_CR13","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmg.2005.037648","volume":"43","author":"L Rickman","year":"2006","unstructured":"Rickman, L. et al. Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J. Med. Genet. 43, 353\u2013361 (2006).","journal-title":"J. Med. Genet."},{"key":"BFnrg201697_CR14","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/978-1-61779-507-7_7","volume":"838","author":"PD Brady","year":"2012","unstructured":"Brady, P. D., Devriendt, K., Deprest, J. & Vermeesch, J. R. Array-based approaches in prenatal diagnosis. Methods Mol. Biol. 838, 151\u2013171 (2012).","journal-title":"Methods Mol. Biol."},{"key":"BFnrg201697_CR15","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","volume":"367","author":"RJ Wapner","year":"2012","unstructured":"Wapner, R. J. et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N. Engl. J. Med. 367, 2175\u20132184 (2012).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR16","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/gim.2013.168","volume":"16","author":"PD Brady","year":"2014","unstructured":"Brady, P. D. et al. A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors. Genet. Med. 16, 469\u2013476 (2014).","journal-title":"Genet. Med."},{"key":"BFnrg201697_CR17","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1002\/pd.3945","volume":"32","author":"LG Shaffer","year":"2012","unstructured":"Shaffer, L. G. et al. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat. Diagn. 32, 976\u2013985 (2012).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR18","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/pd.3861","volume":"32","author":"A Breman","year":"2012","unstructured":"Breman, A. et al. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat. Diagn. 32, 351\u2013361 (2012).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR19","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1007\/s00439-011-1095-5","volume":"131","author":"L Armengol","year":"2012","unstructured":"Armengol, L. et al. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum. Genet. 131, 513\u2013523 (2012).","journal-title":"Hum. Genet."},{"key":"BFnrg201697_CR20","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1038\/nrg3999","volume":"17","author":"LE Vissers","year":"2016","unstructured":"Vissers, L. E., Gilissen, C. & Veltman, J. A. Genetic studies in intellectual disability and related disorders. Nat. Rev. Genet. 17, 9\u201318 (2016).","journal-title":"Nat. Rev. Genet."},{"key":"BFnrg201697_CR21","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","volume":"367","author":"J de Ligt","year":"2012","unstructured":"de Ligt, J. et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367, 1921\u20131929 (2012).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR22","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1038\/gim.2014.58","volume":"16","author":"A Iglesias","year":"2014","unstructured":"Iglesias, A. et al. The usefulness of whole-exome sequencing in routine clinical practice. Genet. Med. 16, 922\u2013931 (2014).","journal-title":"Genet. Med."},{"key":"BFnrg201697_CR23","doi-asserted-by":"crossref","first-page":"3269","DOI":"10.1093\/hmg\/ddu038","volume":"23","author":"KJ Carss","year":"2014","unstructured":"Carss, K. J. et al. Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. Hum. Mol. Genet. 23, 3269\u20133277 (2014).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrg201697_CR24","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1002\/pd.4675","volume":"35","author":"S Drury","year":"2015","unstructured":"Drury, S. et al. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. Prenat. Diagn. 35, 1010\u20131017 (2015).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR25","doi-asserted-by":"crossref","first-page":"2226","DOI":"10.1056\/NEJMoa1208594","volume":"367","author":"ME Talkowski","year":"2012","unstructured":"Talkowski, M. E. et al. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N. Engl. J. Med. 367, 2226\u20132232 (2012).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR26","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/uog.14653","volume":"45","author":"SC Hillman","year":"2015","unstructured":"Hillman, S. C. et al. Prenatal exome sequencing for fetuses with structural abnormalities: the next step. Ultrasound Obstet. Gynecol. 45, 4\u20139 (2015).","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"BFnrg201697_CR27","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1002\/pd.347","volume":"22","author":"DW Bianchi","year":"2002","unstructured":"Bianchi, D. W. et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat. Diagn. 22, 609\u2013615 (2002).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR28","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/S0140-6736(97)02174-0","volume":"350","author":"YM Lo","year":"1997","unstructured":"Lo, Y. M. et al. Presence of fetal DNA in maternal plasma and serum. Lancet 350, 485\u2013487 (1997).","journal-title":"Lancet"},{"key":"BFnrg201697_CR29","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1086\/302205","volume":"64","author":"YM Lo","year":"1999","unstructured":"Lo, Y. M. et al. Rapid clearance of fetal DNA from maternal plasma. Am. J. Hum. Genet. 64, 218\u2013224 (1999).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrg201697_CR30","doi-asserted-by":"crossref","first-page":"S19","DOI":"10.1517\/14712598.2012.670632","volume":"12","author":"BH Faas","year":"2012","unstructured":"Faas, B. H. 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. 12, S19\u2013S26 (2012).","journal-title":"Expert. Opin. Biol. Ther."},{"key":"BFnrg201697_CR31","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1038\/nature11251","volume":"487","author":"HC Fan","year":"2012","unstructured":"Fan, H. C. et al. Non-invasive prenatal measurement of the fetal genome. Nature 487, 320\u2013324 (2012).","journal-title":"Nature"},{"key":"BFnrg201697_CR32","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1002\/uog.12331","volume":"41","author":"G Ashoor","year":"2013","unstructured":"Ashoor, G., Syngelaki, A., Poon, L. C., Rezende, J. C. & Nicolaides, K. H. Fetal fraction in maternal plasma cell-free DNA at 11\u201313 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet. Gynecol. 41, 26\u201332 (2013).","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"BFnrg201697_CR33","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1001\/jama.2011.1114","volume":"306","author":"SA Devaney","year":"2011","unstructured":"Devaney, S. A., Palomaki, G. E., Scott, J. A. & Bianchi, D. W. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 306, 627\u2013636 (2011).","journal-title":"JAMA"},{"key":"BFnrg201697_CR34","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1046\/j.1537-2995.2002.00165.x","volume":"42","author":"KM Finning","year":"2002","unstructured":"Finning, K. M., Martin, P. G., Soothill, P. W. & Avent, N. D. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion 42, 1079\u20131085 (2002).","journal-title":"Transfusion"},{"key":"BFnrg201697_CR35","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.gene.2012.04.045","volume":"504","author":"A Bustamante-Aragones","year":"2012","unstructured":"Bustamante-Aragones, A. et al. Non-invasive prenatal diagnosis of single-gene disorders from maternal blood. Gene 504, 144\u2013149 (2012).","journal-title":"Gene"},{"key":"BFnrg201697_CR36","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1093\/clinchem\/46.2.301","volume":"46","author":"P Amicucci","year":"2000","unstructured":"Amicucci, P., Gennarelli, M., Novelli, G. & Dallapiccola, B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin. Chem. 46, 301\u2013302 (2000).","journal-title":"Clin. Chem."},{"key":"BFnrg201697_CR37","doi-asserted-by":"crossref","first-page":"16266","DOI":"10.1073\/pnas.0808319105","volume":"105","author":"HC Fan","year":"2008","unstructured":"Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L. & Quake, S. R. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl Acad. Sci. USA 105, 16266\u201316271 (2008).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrg201697_CR38","doi-asserted-by":"crossref","first-page":"20458","DOI":"10.1073\/pnas.0810641105","volume":"105","author":"RW Chiu","year":"2008","unstructured":"Chiu, R. W. et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc. Natl Acad. Sci. USA 105, 20458\u201320463 (2008).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrg201697_CR39","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/pd.2922","volume":"32","author":"AB Sparks","year":"2012","unstructured":"Sparks, A. B. et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat. Diagn. 32, 3\u20139 (2012).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR40","doi-asserted-by":"crossref","first-page":"e38154","DOI":"10.1371\/journal.pone.0038154","volume":"7","author":"GJ Liao","year":"2012","unstructured":"Liao, G. J. et al. Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA. PLoS ONE 7, e38154 (2012).","journal-title":"PLoS ONE"},{"key":"BFnrg201697_CR41","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1002\/pd.3993","volume":"32","author":"B Zimmermann","year":"2012","unstructured":"Zimmermann, B. et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat. Diagn. 32, 1233\u20131241 (2012).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR42","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/pd.4103","volume":"33","author":"KH Nicolaides","year":"2013","unstructured":"Nicolaides, K. H., 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. 33, 575\u2013579 (2013).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR43","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/nm.2312","volume":"17","author":"EA Papageorgiou","year":"2011","unstructured":"Papageorgiou, E. A. et al. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat. Med. 17, 510\u2013513 (2011).","journal-title":"Nat. Med."},{"key":"BFnrg201697_CR44","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1038\/nm1530","volume":"13","author":"YM Lo","year":"2007","unstructured":"Lo, Y. M. et al. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat. Med. 13, 218\u2013223 (2007).","journal-title":"Nat. Med."},{"key":"BFnrg201697_CR45","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1097\/GIM.0b013e3182368a0e","volume":"13","author":"GE Palomaki","year":"2011","unstructured":"Palomaki, G. E. et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet. Med. 13, 913\u2013920 (2011).","journal-title":"Genet. Med."},{"key":"BFnrg201697_CR46","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.ajog.2012.05.021","volume":"207","author":"ME Norton","year":"2012","unstructured":"Norton, M. E. et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol. 207, 137\u2013138 (2012).","journal-title":"Am. J. Obstet. Gynecol."},{"key":"BFnrg201697_CR47","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1097\/AOG.0b013e31824fb482","volume":"119","author":"DW Bianchi","year":"2012","unstructured":"Bianchi, D. W. et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet. Gynecol. 119, 890\u2013901 (2012).","journal-title":"Obstet. Gynecol."},{"key":"BFnrg201697_CR48","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1002\/pd.4159","volume":"33","author":"C Samango-Sprouse","year":"2013","unstructured":"Samango-Sprouse, C. et al. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat. Diagn. 33, 643\u2013649 (2013).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR49","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/uog.14791","volume":"45","author":"MM Gil","year":"2015","unstructured":"Gil, M. M., Quezada, M. S., Revello, R., Akolekar, R. & Nicolaides, K. H. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet. Gynecol. 45, 249\u2013266 (2015).","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"BFnrg201697_CR50","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1373\/clinchem.2013.215145","volume":"60","author":"Y Wang","year":"2014","unstructured":"Wang, Y. et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin. Chem. 60, 251\u2013259 (2014).","journal-title":"Clin. Chem."},{"key":"BFnrg201697_CR51","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1002\/pd.3975","volume":"32","author":"JJ Pieters","year":"2012","unstructured":"Pieters, J. J., Verhaak, C. M., Braat, D. D., van Leeuwen, E. & Smits, A. P. Experts' opinions on the benefit of an incidental prenatal diagnosis of sex chromosomal aneuploidy: a qualitative interview survey. Prenat. Diagn. 32, 1151\u20131157 (2012).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR52","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1038\/ejhg.2014.282","volume":"23","author":"B Bayindir","year":"2015","unstructured":"Bayindir, B. et al. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management. Eur. J. Hum. Genet. 23, 1286\u20131293 (2015).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFnrg201697_CR53","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1002\/pd.4110","volume":"33","author":"S Chen","year":"2013","unstructured":"Chen, S. et al. A method for noninvasive detection of fetal large deletions\/duplications by low coverage massively parallel sequencing. Prenat. Diagn. 33, 584\u2013590 (2013).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR54","doi-asserted-by":"crossref","first-page":"1847","DOI":"10.1056\/NEJMc1106975","volume":"365","author":"D Peters","year":"2011","unstructured":"Peters, D. et al. Noninvasive prenatal diagnosis of a fetal microdeletion syndrome. N. Engl. J. Med. 365, 1847\u20131848 (2011).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR55","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.ajhg.2012.12.006","volume":"92","author":"A Srinivasan","year":"2013","unstructured":"Srinivasan, A., Bianchi, D. W., Huang, H., Sehnert, A. J. & Rava, R. P. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am. J. Hum. Genet. 92, 167\u2013176 (2013).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrg201697_CR56","doi-asserted-by":"crossref","first-page":"e31","DOI":"10.1093\/nar\/gkt992","volume":"42","author":"R Straver","year":"2014","unstructured":"Straver, R. et al. WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme. Nucleic Acids Res. 42, e31 (2014).","journal-title":"Nucleic Acids Res."},{"key":"BFnrg201697_CR57","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1373\/clinchem.2014.233312","volume":"61","author":"C Zhao","year":"2015","unstructured":"Zhao, C. et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin. Chem. 61, 608\u2013616 (2015).","journal-title":"Clin. Chem."},{"key":"BFnrg201697_CR58","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1111\/cge.12598","volume":"89","author":"P Brady","year":"2015","unstructured":"Brady, P. et al. Clinical implementation of NIPT \u2014 technical and biological challenges. Clin. Genet. 89, 523\u2013530 (2015).","journal-title":"Clin. Genet."},{"key":"BFnrg201697_CR59","doi-asserted-by":"crossref","first-page":"434","DOI":"10.3109\/14767058.2012.733768","volume":"26","author":"TK Lau","year":"2013","unstructured":"Lau, T. K. et al. Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies. J. Matern. Fetal Neonatal Med. 26, 434\u2013437 (2013).","journal-title":"J. Matern. Fetal Neonatal Med."},{"key":"BFnrg201697_CR60","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1002\/pd.4076","volume":"33","author":"TK Lau","year":"2013","unstructured":"Lau, T. K. et al. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat. Diagn. 33, 602\u2013608 (2013).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR61","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1002\/pd.1430","volume":"26","author":"L Wilkins-Haug","year":"2006","unstructured":"Wilkins-Haug, L., Quade, B. & Morton, C. C. Confined placental mosaicism as a risk factor among newborns with fetal growth restriction. Prenat. Diagn. 26, 428\u2013432 (2006).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR62","first-page":"34","volume":"98","author":"KK Lo","year":"2015","unstructured":"Lo, K. K. et al. Limited clinical utility of non-invasive prenatal testing for subchromosomal abnormalities. Am. J. Hum. Genet. 98, 34\u201344 (2015).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrg201697_CR63","doi-asserted-by":"crossref","first-page":"332.e1","DOI":"10.1016\/j.ajog.2014.11.041","volume":"212","author":"RJ Wapner","year":"2014","unstructured":"Wapner, R. J. et al. Expanding the scope of non-invasive prenatal testing: detection of fetal microdeletion syndromes. Am. J. Obstet. Gynecol. 212, 332.e1\u2013332.e9 (2014).","journal-title":"Am. J. Obstet. Gynecol."},{"key":"BFnrg201697_CR64","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1056\/NEJMoa1311037","volume":"370","author":"DW Bianchi","year":"2014","unstructured":"Bianchi, D. W. et al. DNA sequencing versus standard prenatal aneuploidy screening. N. Engl. J. Med. 370, 799\u2013808 (2014).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR65","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1002\/pd.4160","volume":"33","author":"Y Song","year":"2013","unstructured":"Song, Y. et al. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat. Diagn. 33, 700\u2013706 (2013).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR66","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1056\/NEJMoa1407349","volume":"372","author":"ME Norton","year":"2015","unstructured":"Norton, M. E. et al. Cell-free DNA analysis for noninvasive examination of trisomy. N. Engl. J. Med. 372, 1589\u20131597 (2015).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR67","doi-asserted-by":"crossref","first-page":"137ra76","DOI":"10.1126\/scitranslmed.3004323","volume":"4","author":"JO Kitzman","year":"2012","unstructured":"Kitzman, J. O. et al. Noninvasive whole-genome sequencing of a human fetus. Sci. Transl. Med. 4, 137ra76 (2012).","journal-title":"Sci. Transl. Med."},{"key":"BFnrg201697_CR68","first-page":"61ra91","volume":"2","author":"YM Lo","year":"2010","unstructured":"Lo, Y. M. et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci. Transl. Med. 2, 61ra91 (2010).","journal-title":"Sci. Transl. Med."},{"key":"BFnrg201697_CR69","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.cell.2015.11.050","volume":"164","author":"MW Snyder","year":"2016","unstructured":"Snyder, M. W., Kircher, M., Hill, A. J., Daza, R. M. & Shendure, J. Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin. Cell 164, 57\u201368 (2016).","journal-title":"Cell"},{"key":"BFnrg201697_CR70","doi-asserted-by":"crossref","first-page":"E5503","DOI":"10.1073\/pnas.1508736112","volume":"112","author":"K Sun","year":"2015","unstructured":"Sun, K. et al. Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments. Proc. Natl Acad. Sci. USA 112, E5503\u2013E5512 (2015).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrg201697_CR71","doi-asserted-by":"crossref","first-page":"e55","DOI":"10.1016\/S2352-3026(14)00039-8","volume":"2","author":"P Vandenberghe","year":"2015","unstructured":"Vandenberghe, P. et al. Non-invasive detection of genomic imbalances in Hodgkin\/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study. Lancet Haematol. 2, e55\u2013e65 (2015).","journal-title":"Lancet Haematol."},{"key":"BFnrg201697_CR72","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1001\/jamaoncol.2015.1883","volume":"1","author":"F Amant","year":"2015","unstructured":"Amant, F. et al. Presymptomatic identification of cancers in pregnant women during noninvasive prenatal testing. JAMA Oncol. 1, 814\u2013819 (2015).","journal-title":"JAMA Oncol."},{"key":"BFnrg201697_CR73","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1001\/jama.2015.7120","volume":"314","author":"DW Bianchi","year":"2015","unstructured":"Bianchi, D. W. et al. Noninvasive prenatal testing and incidental detection of occult maternal malignancies. JAMA 314, 162\u2013169 (2015).","journal-title":"JAMA"},{"key":"BFnrg201697_CR74","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1056\/NEJMoa1408408","volume":"372","author":"MW Snyder","year":"2015","unstructured":"Snyder, M. W. et al. Copy-number variation and false positive prenatal aneuploidy screening results. N. Engl. J. Med. 372, 1639\u20131645 (2015).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR75","doi-asserted-by":"publisher","unstructured":"Brison, N. et al. Maternal incidental findings during non-invasive prenatal testing for fetal aneuploidies. Genet. Med. http:\/\/dx.doi.org\/10.1038\/gim.2016.113 (2016).","DOI":"10.1038\/gim.2016.113"},{"key":"BFnrg201697_CR76","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1146\/annurev-med-091014-115715","volume":"67","author":"FC Wong","year":"2016","unstructured":"Wong, F. C. & Lo, Y. M. Prenatal diagnosis innovation: genome sequencing of maternal plasma. Annu. Rev. Med. 67, 419\u2013432 (2016).","journal-title":"Annu. Rev. Med."},{"key":"BFnrg201697_CR77","doi-asserted-by":"crossref","first-page":"1583","DOI":"10.1373\/clinchem.2013.212274","volume":"59","author":"FM Lun","year":"2013","unstructured":"Lun, F. M. et al. Noninvasive prenatal methylomic analysis by genomewide bisulfite sequencing of maternal plasma DNA. Clin. Chem. 59, 1583\u20131594 (2013).","journal-title":"Clin. Chem."},{"key":"BFnrg201697_CR78","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1373\/clinchem.2014.221648","volume":"60","author":"NB Tsui","year":"2014","unstructured":"Tsui, N. B. et al. Maternal plasma RNA sequencing for genome-wide transcriptomic profiling and identification of pregnancy-associated transcripts. Clin. Chem. 60, 954\u2013962 (2014).","journal-title":"Clin. Chem."},{"key":"BFnrg201697_CR79","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1038\/218346a0","volume":"218","author":"RL Gardner","year":"1968","unstructured":"Gardner, R. L. & Edwards, R. G. Control of the sex ratio at full term in the rabbit by transferring sexed blastocysts. Nature 218, 346\u2013349 (1968).","journal-title":"Nature"},{"key":"BFnrg201697_CR80","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/S0140-6736(89)91723-6","volume":"1","author":"AH Handyside","year":"1989","unstructured":"Handyside, A. H. et al. Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1, 347\u2013349 (1989).","journal-title":"Lancet"},{"key":"BFnrg201697_CR81","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1093\/oxfordjournals.humrep.a137192","volume":"5","author":"Y Verlinsky","year":"1990","unstructured":"Verlinsky, Y. et al. Analysis of the first polar body: preconception genetic diagnosis. Hum. Reprod. 5, 826\u2013829 (1990).","journal-title":"Hum. Reprod."},{"key":"BFnrg201697_CR82","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1038\/nrg953","volume":"3","author":"P Braude","year":"2002","unstructured":"Braude, P., Pickering, S., Flinter, F. & Ogilvie, C. M. Preimplantation genetic diagnosis. Nat. Rev. Genet. 3, 941\u2013953 (2002).","journal-title":"Nat. Rev. Genet."},{"key":"BFnrg201697_CR83","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1002\/pd.2552","volume":"30","author":"JL Simpson","year":"2010","unstructured":"Simpson, J. L. Preimplantation genetic diagnosis at 20 years. Prenat. Diagn. 30, 682\u2013695 (2010).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR84","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1093\/humrep\/dep059","volume":"24","author":"V Goossens","year":"2009","unstructured":"Goossens, V. et al. ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007. Hum. Reprod. 24, 1786\u20131810 (2009).","journal-title":"Hum. Reprod."},{"key":"BFnrg201697_CR85","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/344768a0","volume":"344","author":"AH Handyside","year":"1990","unstructured":"Handyside, A. H., Kontogianni, E. H., Hardy, K. & Winston, R. M. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344, 768\u2013770 (1990).","journal-title":"Nature"},{"key":"BFnrg201697_CR86","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1056\/NEJM199209243271301","volume":"327","author":"AH Handyside","year":"1992","unstructured":"Handyside, A. H., Lesko, J. G., Tarin, J. J., Winston, R. M. & Hughes, M. R. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N. Engl. J. Med. 327, 905\u2013909 (1992).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR87","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1007\/BF00207035","volume":"89","author":"DK Griffin","year":"1992","unstructured":"Griffin, D. K., Wilton, L. J., Handyside, A. H., Winston, R. M. & Delhanty, J. D. Dual fluorescent in situ hybridisation for simultaneous detection of X and Y chromosome-specific probes for the sexing of human preimplantation embryonic nuclei. Hum. Genet. 89, 18\u201322 (1992).","journal-title":"Hum. Genet."},{"key":"BFnrg201697_CR88","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1007\/BF02072528","volume":"13","author":"I Findlay","year":"1996","unstructured":"Findlay, I., Quirke, P., Hall, J. & Rutherford, A. Fluorescent PCR: a new technique for PGD of sex and single-gene defects. J. Assist Reprod. Genet. 13, 96\u2013103 (1996).","journal-title":"J. Assist Reprod. Genet."},{"key":"BFnrg201697_CR89","doi-asserted-by":"crossref","first-page":"3130","DOI":"10.1001\/jama.285.24.3130","volume":"285","author":"Y Verlinsky","year":"2001","unstructured":"Verlinsky, Y., Rechitsky, S., Schoolcraft, W., Strom, C. & Kuliev, A. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA 285, 3130\u20133133 (2001).","journal-title":"JAMA"},{"key":"BFnrg201697_CR90","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1093\/humrep\/dev122","volume":"30","author":"M De Rycke","year":"2015","unstructured":"De Rycke, M. et al. ESHRE PGD Consortium data collection XIII: cycles from January to December 2010 with pregnancy follow-up to October 2011. Hum. Reprod. 30, 1763\u20131789 (2015).","journal-title":"Hum. Reprod."},{"key":"BFnrg201697_CR91","unstructured":"The European IVF Monitoring Consortium et al. Assisted reproductive technology in Europe, 2011: results generated from European registers by ESHRE. Hum. Reprod. 31, 233\u2013248 (2016)."},{"key":"BFnrg201697_CR92","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/BF00290960","volume":"72","author":"RR Angell","year":"1986","unstructured":"Angell, R. R., Templeton, A. A. & Aitken, R. J. Chromosome studies in human in vitro fertilization. Hum. Genet. 72, 333\u2013339 (1986).","journal-title":"Hum. Genet."},{"key":"BFnrg201697_CR93","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1093\/humrep\/dem424","volume":"23","author":"J Harper","year":"2008","unstructured":"Harper, J. et al. What next for preimplantation genetic screening? Hum. Reprod. 23, 478\u2013480 (2008).","journal-title":"Hum. Reprod."},{"key":"BFnrg201697_CR94","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/pd.388","volume":"22","author":"L Wilton","year":"2002","unstructured":"Wilton, L. Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review. Prenat. Diagn. 22, 512\u2013518 (2002).","journal-title":"Prenat. Diagn."},{"key":"BFnrg201697_CR95","doi-asserted-by":"crossref","first-page":"2679","DOI":"10.1093\/humrep\/dep266","volume":"24","author":"E Vanneste","year":"2009","unstructured":"Vanneste, E. et al. What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate. Hum. Reprod. 24, 2679\u20132682 (2009).","journal-title":"Hum. Reprod."},{"key":"BFnrg201697_CR96","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/j.fertnstert.2008.10.072","volume":"93","author":"S Debrock","year":"2010","unstructured":"Debrock, S. et al. Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial. Fertil. Steril. 93, 364\u2013373 (2010).","journal-title":"Fertil. Steril."},{"key":"BFnrg201697_CR97","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1016\/S0015-0282(97)00412-3","volume":"68","author":"L Gianaroli","year":"1997","unstructured":"Gianaroli, L. et al. Preimplantation genetic diagnosis increases the implantation rate in human in vitro fertilization by avoiding the transfer of chromosomally abnormal embryos. Fertil. Steril. 68, 1128\u20131131 (1997).","journal-title":"Fertil. Steril."},{"key":"BFnrg201697_CR98","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.fertnstert.2012.01.115","volume":"97","author":"NR Treff","year":"2012","unstructured":"Treff, N. R. et al. Development and validation of an accurate quantitative real-time polymerase chain reaction-based assay for human blastocyst comprehensive chromosomal aneuploidy screening. Fertil. Steril. 97, 819\u2013824 (2012).","journal-title":"Fertil. Steril."},{"key":"BFnrg201697_CR99","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1093\/humrep\/dep452","volume":"25","author":"DS Johnson","year":"2010","unstructured":"Johnson, D. S. et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24- h protocol. Hum. Reprod. 25, 1066\u20131075 (2010).","journal-title":"Hum. Reprod."},{"key":"BFnrg201697_CR100","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1093\/molehr\/gaq039","volume":"16","author":"NR Treff","year":"2010","unstructured":"Treff, N. R. et al. SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH. Mol. Hum. Reprod. 16, 583\u2013589 (2010).","journal-title":"Mol. Hum. Reprod."},{"key":"BFnrg201697_CR101","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1038\/ejhg.2012.27","volume":"20","author":"CM van Uum","year":"2012","unstructured":"van Uum, C. M. et al. SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations. Eur. J. Hum. Genet. 20, 938\u2013944 (2012).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFnrg201697_CR102","doi-asserted-by":"crossref","first-page":"e1003025","DOI":"10.1371\/journal.pgen.1003025","volume":"8","author":"S Alfarawati","year":"2012","unstructured":"Alfarawati, S., Fragouli, E., Colls, P. & Wells, D. Embryos of Robertsonian translocation carriers exhibit a mitotic interchromosomal effect that enhances genetic instability during early development. PLoS Genet. 8, e1003025 (2012).","journal-title":"PLoS Genet."},{"key":"BFnrg201697_CR103","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJMoa067744","volume":"357","author":"S Mastenbroek","year":"2007","unstructured":"Mastenbroek, S. et al. In vitro fertilization with preimplantation genetic screening. N. Engl. J. Med. 357, 9\u201317 (2007).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR104","doi-asserted-by":"crossref","first-page":"2806","DOI":"10.1093\/humrep\/den217","volume":"23","author":"T Hardarson","year":"2008","unstructured":"Hardarson, T. et al. Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: a randomized controlled trial. Hum. Reprod. 23, 2806\u20132812 (2008).","journal-title":"Hum. Reprod."},{"key":"BFnrg201697_CR105","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1038\/nm.1924","volume":"15","author":"E Vanneste","year":"2009","unstructured":"Vanneste, E. et al. Chromosome instability is common in human cleavage-stage embryos. Nat. Med. 15, 577\u2013583 (2009).","journal-title":"Nat. Med."},{"key":"BFnrg201697_CR106","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1093\/humupd\/dmr014","volume":"17","author":"J van Echten-Arends","year":"2011","unstructured":"van Echten-Arends, J. et al. Chromosomal mosaicism in human preimplantation embryos: a systematic review. Hum. Reprod. Update 17, 620\u2013627 (2011).","journal-title":"Hum. Reprod. Update"},{"key":"BFnrg201697_CR107","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1056\/NEJMc1500421","volume":"373","author":"E Greco","year":"2015","unstructured":"Greco, E., Minasi, M. G. & Fiorentino, F. Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. N. Engl. J. Med. 373, 2089\u20132090 (2015).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR108","doi-asserted-by":"crossref","first-page":"e68","DOI":"10.1093\/nar\/gkl336","volume":"34","author":"C Le Caignec","year":"2006","unstructured":"Le Caignec, C. et al. Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res. 34, e68 (2006).","journal-title":"Nucleic Acids Res."},{"key":"BFnrg201697_CR109","doi-asserted-by":"crossref","first-page":"e105","DOI":"10.1093\/nar\/gkp526","volume":"37","author":"JB Geigl","year":"2009","unstructured":"Geigl, J. B. et al. Identification of small gains and losses in single cells after whole genome amplification on tiling oligo arrays. Nucleic Acids Res. 37, e105 (2009).","journal-title":"Nucleic Acids Res."},{"key":"BFnrg201697_CR110","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/978-1-4939-2990-0_14","volume":"1347","author":"E Dimitriadou","year":"2015","unstructured":"Dimitriadou, E., Zamani Esteki, M., Vermeesch, J. R. Copy number variation by array analysis of single cells following wole genome amplification. Methods Mol. Biol. 1347, 197\u2013219 (2015).","journal-title":"Methods Mol. Biol."},{"key":"BFnrg201697_CR111","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1093\/humrep\/der068","volume":"26","author":"S Alfarawati","year":"2011","unstructured":"Alfarawati, S., Fragouli, E., Colls, P. & Wells, D. First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum. Reprod. 26, 1560\u20131574 (2011).","journal-title":"Hum. Reprod."},{"key":"BFnrg201697_CR112","doi-asserted-by":"crossref","first-page":"1925","DOI":"10.1093\/humrep\/der082","volume":"26","author":"F Fiorentino","year":"2011","unstructured":"Fiorentino, F. et al. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum. Reprod. 26, 1925\u20131935 (2011).","journal-title":"Hum. Reprod."},{"key":"BFnrg201697_CR113","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1093\/humrep\/der004","volume":"26","author":"E Vanneste","year":"2011","unstructured":"Vanneste, E. et al. PGD for a complex chromosomal rearrangement by array comparative genomic hybridization. Hum. Reprod. 26, 941\u2013949 (2011).","journal-title":"Hum. Reprod."},{"key":"BFnrg201697_CR114","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1093\/molehr\/gaq103","volume":"17","author":"NR Treff","year":"2011","unstructured":"Treff, N. R., Su, J., Tao, X., Northrop, L. E. & Scott, R. T. Jr. Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses. Mol. Hum. Reprod. 17, 335\u2013343 (2011).","journal-title":"Mol. Hum. Reprod."},{"key":"BFnrg201697_CR115","doi-asserted-by":"crossref","first-page":"1786.e5","DOI":"10.1016\/j.fertnstert.2010.11.025","volume":"95","author":"PR Brezina","year":"2011","unstructured":"Brezina, P. R. et al. Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: a novel approach in optimizing pregnancy outcome. Fertil. Steril. 95, 1786.e5\u20131786.e8 (2011).","journal-title":"Fertil. Steril."},{"key":"BFnrg201697_CR116","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1038\/gim.2014.45","volume":"16","author":"SA Natesan","year":"2014","unstructured":"Natesan, S. A. et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet. Med. 16, 838\u2013845 (2014).","journal-title":"Genet. Med."},{"key":"BFnrg201697_CR117","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/j.ajhg.2015.04.011","volume":"96","author":"M Zamani Esteki","year":"2015","unstructured":"Zamani Esteki, M. et al. Concurrent whole-genome haplotyping and copy-number profiling of single cells. Am. J. Hum. Genet. 96, 894\u2013912 (2015).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrg201697_CR118","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1038\/nature11236","volume":"487","author":"BA Peters","year":"2012","unstructured":"Peters, B. A. et al. Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells. Nature 487, 190\u2013195 (2012).","journal-title":"Nature"},{"key":"BFnrg201697_CR119","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1101\/gr.181255.114","volume":"25","author":"BA Peters","year":"2015","unstructured":"Peters, B. A. et al. Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing. Genome Res. 25, 426\u2013434 (2015).","journal-title":"Genome Res."},{"key":"BFnrg201697_CR120","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/nbt.1739","volume":"29","author":"HC Fan","year":"2011","unstructured":"Fan, H. C., Wang, J., Potanina, A. & Quake, S. R. Whole-genome molecular haplotyping of single cells. Nat. Biotechnol. 29, 51\u201357 (2011).","journal-title":"Nat. Biotechnol."},{"key":"BFnrg201697_CR121","doi-asserted-by":"crossref","first-page":"1492","DOI":"10.1016\/j.cell.2013.11.040","volume":"155","author":"Y Hou","year":"2013","unstructured":"Hou, Y. et al. Genome analyses of single human oocytes. Cell 155, 1492\u20131506 (2013).","journal-title":"Cell"},{"key":"BFnrg201697_CR122","doi-asserted-by":"crossref","first-page":"1622","DOI":"10.1126\/science.1229164","volume":"338","author":"C Zong","year":"2012","unstructured":"Zong, C., Lu, S., Chapman, A. R. & Xie, X. S. Genome-wide detection of single-nucleotide and copy-number variations of a single human cell. Science 338, 1622\u20131626 (2012).","journal-title":"Science"},{"key":"BFnrg201697_CR123","doi-asserted-by":"crossref","first-page":"6119","DOI":"10.1093\/nar\/gkt345","volume":"41","author":"T Voet","year":"2013","unstructured":"Voet, T. et al. Single-cell paired-end genome sequencing reveals structural variation per cell cycle. Nucleic Acids Res. 41, 6119\u20136138 (2013).","journal-title":"Nucleic Acids Res."},{"key":"BFnrg201697_CR124","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.1016\/j.celrep.2014.07.043","volume":"8","author":"X Cai","year":"2014","unstructured":"Cai, X. et al. Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 8, 1280\u20131289 (2014).","journal-title":"Cell Rep."},{"key":"BFnrg201697_CR125","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1002\/humu.22625","volume":"35","author":"V Binder","year":"2014","unstructured":"Binder, V. et al. A new workflow for whole-genome sequencing of single human cells. Hum. Mutat. 35, 1260\u20131270 (2014).","journal-title":"Hum. Mutat."},{"key":"BFnrg201697_CR126","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1136\/jmedgenet-2014-102497","volume":"51","author":"D Wells","year":"2014","unstructured":"Wells, D. et al. Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation. J. Med. Genet. 51, 553\u2013562 (2014).","journal-title":"J. Med. Genet."},{"key":"BFnrg201697_CR127","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1101\/gr.188060.114","volume":"25","author":"T Baslan","year":"2015","unstructured":"Baslan, T. et al. Optimizing sparse sequencing of single cells for highly multiplex copy number profiling. Genome Res. 25, 714\u2013724 (2015).","journal-title":"Genome Res."},{"key":"BFnrg201697_CR128","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1016\/j.fertnstert.2016.01.016","volume":"105","author":"S Munne","year":"2016","unstructured":"Munne, S., Grifo, J. & Wells, D. Mosaicism: \u201csurvival of the fittest\u201d versus \u201cno embryo left behind\u201d. Fertil. Steril. 105, 1146\u20131149 (2016).","journal-title":"Fertil. Steril."},{"key":"BFnrg201697_CR129","unstructured":"US National Library of Medicine. ClinicalTrials.gov https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02268786?term=NCT02268786&rank=1 (2016)."},{"key":"BFnrg201697_CR130","doi-asserted-by":"crossref","first-page":"e1005241","DOI":"10.1371\/journal.pgen.1005241","volume":"11","author":"E Fragouli","year":"2015","unstructured":"Fragouli, E. et al. Altered levels of mitochondrial DNA are associated with female age, aneuploidy, and provide an independent measure of embryonic implantation potential. PLoS Genet. 11, e1005241 (2015).","journal-title":"PLoS Genet."},{"key":"BFnrg201697_CR131","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1038\/nbt.1686","volume":"28","author":"CC Wong","year":"2010","unstructured":"Wong, C. C. et al. Non-invasive imaging of human embryos before embryonic genome activation predicts development to the blastocyst stage. Nat. Biotechnol. 28, 1115\u20131121 (2010).","journal-title":"Nat. Biotechnol."},{"key":"BFnrg201697_CR132","doi-asserted-by":"crossref","first-page":"7601","DOI":"10.1038\/ncomms8601","volume":"6","author":"M Vera-Rodriguez","year":"2015","unstructured":"Vera-Rodriguez, M., Chavez, S. L., Rubio, C., Reijo Pera, R. A. & Simon, C. Prediction model for aneuploidy in early human embryo development revealed by single-cell analysis. Nat. Commun. 6, 7601 (2015).","journal-title":"Nat. Commun."},{"key":"BFnrg201697_CR133","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1038\/ncomms2249","volume":"3","author":"SL Chavez","year":"2012","unstructured":"Chavez, S. L. et al. Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stage. Nat. Commun. 3, 1251 (2012).","journal-title":"Nat. Commun."},{"key":"BFnrg201697_CR134","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/nmeth.3370","volume":"12","author":"IC Macaulay","year":"2015","unstructured":"Macaulay, I. C. et al. G&T-seq: parallel sequencing of single-cell genomes and transcriptomes. Nat. Methods 12, 519\u2013522 (2015).","journal-title":"Nat. Methods"},{"key":"BFnrg201697_CR135","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/nmeth.3728","volume":"13","author":"C Angermueller","year":"2016","unstructured":"Angermueller, C. et al. Parallel single-cell sequencing links transcriptional and epigenetic heterogeneity. Nat. Methods 13, 229\u2013232 (2016).","journal-title":"Nat. Methods"},{"key":"BFnrg201697_CR136","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1136\/jme.2003.004150","volume":"30","author":"S Sheldon","year":"2004","unstructured":"Sheldon, S. & Wilkinson, S. Should selecting saviour siblings be banned? J. Med. Eth. 30, 533\u2013537 (2004).","journal-title":"J. Med. Eth."},{"key":"BFnrg201697_CR137","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1093\/humrep\/dev056","volume":"30","author":"K Hens","year":"2015","unstructured":"Hens, K., Dondorp, W. & de Wert, G. A leap of faith? An interview study with professionals on the use of mitochondrial replacement to avoid transfer of mitochondrial diseases. Hum. Reprod. 30, 1256\u20131262 (2015).","journal-title":"Hum. Reprod."},{"key":"BFnrg201697_CR138","doi-asserted-by":"crossref","first-page":"1592","DOI":"10.1038\/ejhg.2015.109","volume":"23","author":"W Dondorp","year":"2015","unstructured":"Dondorp, W. et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur. J. Hum. Genet. 23, 1592 (2015).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFnrg201697_CR139","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1146\/annurev-genom-090314-050000","volume":"16","author":"MA Minear","year":"2015","unstructured":"Minear, M. A., Alessi, S., Allyse, M., Michie, M. & Chandrasekharan, S. Noninvasive prenatal genetic testing: current and emerging ethical, legal, and social issues. Annu. Rev. Genom. Hum. Genet. 16, 369\u2013398 (2015).","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"BFnrg201697_CR140","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/gm163","volume":"2","author":"AL Beaudet","year":"2010","unstructured":"Beaudet, A. L. Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice. Genome Med. 2, 42 (2010).","journal-title":"Genome Med."},{"key":"BFnrg201697_CR141","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1002\/humu.22076","volume":"33","author":"JR Vermeesch","year":"2012","unstructured":"Vermeesch, J. R., Brady, P. D., Sanlaville, D., Kok, K. & Hastings, R. J. Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics. Hum. Mutat. 33, 906\u2013915 (2012).","journal-title":"Hum. Mutat."},{"key":"BFnrg201697_CR142","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/gim.2012.164","volume":"15","author":"JA Rosenfeld","year":"2013","unstructured":"Rosenfeld, J. A., Coe, B. P., Eichler, E. E., Cuckle, H. & Shaffer, L. G. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet. Med. 15, 478\u2013481 (2013).","journal-title":"Genet. Med."},{"key":"BFnrg201697_CR143","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.ejmg.2014.02.002","volume":"57","author":"O Vanakker","year":"2014","unstructured":"Vanakker, O. et al. Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. Eur. J. Med. Genet. 57, 151\u2013156 (2014).","journal-title":"Eur. J. Med. Genet."},{"key":"BFnrg201697_CR144","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1056\/NEJM199406023302213","volume":"330","author":"S Elias","year":"1994","unstructured":"Elias, S. & Annas, G. J. Generic consent for genetic screening. N. Engl. J. Med. 330, 1611\u20131613 (1994).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR145","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1038\/ejhg.2015.207","volume":"24","author":"C Lewis","year":"2015","unstructured":"Lewis, C., Hill, M., Skirton, H. & Chitty, L. S. Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy. Eur. J. Hum. Genet. 24, 809\u2013816 (2015).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFnrg201697_CR146","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1111\/bioe.12126","volume":"29","author":"C Munthe","year":"2015","unstructured":"Munthe, C. A new ethical landscape of prenatal testing: individualizing choice to serve autonomy and promote public health: a radical proposal. Bioethics 29, 36\u201345 (2015).","journal-title":"Bioethics"},{"key":"BFnrg201697_CR147","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1038\/nm.2829","volume":"18","author":"DW Bianchi","year":"2012","unstructured":"Bianchi, D. W. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. Nat. Med. 18, 1041\u20131051 (2012).","journal-title":"Nat. Med."},{"key":"BFnrg201697_CR148","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1016\/j.fertnstert.2010.11.004","volume":"95","author":"NR Treff","year":"2011","unstructured":"Treff, N. R. et al. Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil. Steril. 95, 1606\u20131612 (2011).","journal-title":"Fertil. Steril."},{"key":"BFnrg201697_CR149","doi-asserted-by":"crossref","first-page":"e105585","DOI":"10.1371\/journal.pone.0105585","volume":"9","author":"CF de Bourcy","year":"2014","unstructured":"de Bourcy, C. F. et al. A quantitative comparison of single-cell whole genome amplification methods. PLoS ONE 9, e105585 (2014).","journal-title":"PLoS ONE"},{"key":"BFnrg201697_CR150","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/j.cell.2012.02.028","volume":"148","author":"Y Hou","year":"2012","unstructured":"Hou, Y. et al. Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferative neoplasm. Cell 148, 873\u2013885 (2012).","journal-title":"Cell"},{"key":"BFnrg201697_CR151","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1472-6750-7-19","volume":"7","author":"RS Lasken","year":"2007","unstructured":"Lasken, R. S. & Stockwell, T. B. Mechanism of chimera formation during the Multiple Displacement Amplification reaction. BMC Biotechnol. 7, 19 (2007).","journal-title":"BMC Biotechnol."},{"key":"BFnrg201697_CR152","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1038\/nature13600","volume":"512","author":"Y Wang","year":"2014","unstructured":"Wang, Y. et al. Clonal evolution in breast cancer revealed by single nucleus genome sequencing. Nature 512, 155\u2013160 (2014).","journal-title":"Nature"},{"key":"BFnrg201697_CR153","doi-asserted-by":"crossref","first-page":"11889","DOI":"10.1073\/pnas.0704662104","volume":"104","author":"Y Marcy","year":"2007","unstructured":"Marcy, Y. et al. Dissecting biological \u201cdark matter\u201d with single-cell genetic analysis of rare and uncultivated TM7 microbes from the human mouth. Proc. Natl Acad. Sci. USA 104, 11889\u201311894 (2007).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrg201697_CR154","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1159\/000324235","volume":"133","author":"T Voet","year":"2011","unstructured":"Voet, T., Vanneste, E. & Vermeesch, J. R. The human cleavage stage embryo is a cradle of chromosomal rearrangements. Cytogenet. Genome Res. 133, 160\u2013168 (2011).","journal-title":"Cytogenet. Genome Res."},{"key":"BFnrg201697_CR155","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/ng.3306","volume":"47","author":"CS Ottolini","year":"2015","unstructured":"Ottolini, C. S. et al. Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates. Nat. Genet. 47, 727\u2013735 (2015).","journal-title":"Nat. Genet."},{"key":"BFnrg201697_CR156","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1101\/gr.200527.115","volume":"26","author":"A Destouni","year":"2016","unstructured":"Destouni, A. Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy. Genome Res. 26, 1\u201326 (2016).","journal-title":"Genome Res."},{"key":"BFnrg201697_CR157","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1056\/NEJM199812103392402","volume":"339","author":"YM Lo","year":"1998","unstructured":"Lo, Y. M. et al. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N. Engl. J. Med. 339, 1734\u20131738 (1998).","journal-title":"N. Engl. J. Med."},{"key":"BFnrg201697_CR158","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1016\/S0140-6736(02)11086-5","volume":"360","author":"RW Chiu","year":"2002","unstructured":"Chiu, R. W. et al. Prenatal exclusion of \u03b2 thalassaemia major by examination of maternal plasma. Lancet 360, 998\u20131000 (2002).","journal-title":"Lancet"},{"key":"BFnrg201697_CR159","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.molmed.2014.12.006","volume":"21","author":"AI Wong","year":"2015","unstructured":"Wong, A. I. & Lo, Y. M. Noninvasive fetal genomic, methylomic, and transcriptomic analyses using maternal plasma and clinical implications. Trends Mol. Med. 21, 98\u2013108 (2015).","journal-title":"Trends Mol. Med."},{"key":"BFnrg201697_CR160","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1038\/nrg1692","volume":"6","author":"MR Speicher","year":"2005","unstructured":"Speicher, M. R. & Carter, N. P. The new cytogenetics: blurring the boundaries with molecular biology. Nat. Rev. Genet. 6, 782\u2013792 (2005).","journal-title":"Nat. Rev. Genet."},{"key":"BFnrg201697_CR161","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/nrg1767","volume":"7","author":"L Feuk","year":"2006","unstructured":"Feuk, L., Carson, A. R. & Scherer, S. W. Structural variation in the human genome. Nat. Rev. Genet. 7, 85\u201397 (2006).","journal-title":"Nat. Rev. Genet."}],"container-title":["Nature Reviews Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nrg.2016.97.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrg.2016.97","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrg.2016.97.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T23:53:39Z","timestamp":1684454019000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nrg.2016.97"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,15]]},"references-count":161,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["BFnrg201697"],"URL":"https:\/\/doi.org\/10.1038\/nrg.2016.97","relation":{},"ISSN":["1471-0056","1471-0064"],"issn-type":[{"value":"1471-0056","type":"print"},{"value":"1471-0064","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,15]]},"assertion":[{"value":"15 September 2016","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"J.R.V. and T.V. are co-inventors on patent application ZL913096-PCT\/EP2014\/068315-WO\/2015\/028576 'Haplotyping and copy-number typing using polymorphic variant allelic frequencies', which is licensed to Cartagenia (Agilent Technologies).","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}