{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:35:33Z","timestamp":1787726133963,"version":"build-2784847793"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81801533"],"award-info":[{"award-number":["81801533"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271733"],"award-info":[{"award-number":["82271733"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Nanjing medical science and technology development fund general subject","award":["YKK21101"],"award-info":[{"award-number":["YKK21101"]}]},{"name":"Nanjing medical science and technology development fund general subject","award":["YKK20082"],"award-info":[{"award-number":["YKK20082"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Arch Gynecol Obstet"],"DOI":"10.1007\/s00404-024-07773-y","type":"journal-article","created":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T15:02:23Z","timestamp":1730214143000},"page":"3195-3208","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The clinical application of affected-embryo-based SNP haplotype analysis for patients with de novo pathogenic mutations in PGT-M cycles"],"prefix":"10.1007","volume":"310","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7721-6294","authenticated-orcid":false,"given":"Jie","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Xing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linjun","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenyu","family":"Diao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linlin","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanshan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ningyuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,10,29]]},"reference":[{"issue":"10","key":"7773_CR1","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1186\/gb-2003-4-10-119","volume":"4","author":"MI McCarthy","year":"2003","unstructured":"McCarthy MI, Smedley D, Hide W (2003) New methods for finding disease-susceptibility genes: impact and potential. Genome Biol 4(10):119","journal-title":"Genome Biol"},{"issue":"5","key":"7773_CR2","doi-asserted-by":"publisher","first-page":"1769","DOI":"10.1093\/bib\/bby049","volume":"20","author":"MG Dozmorov","year":"2019","unstructured":"Dozmorov MG (2019) Disease classification: from phenotypic similarity to integrative genomics and beyond. Brief Bioinform 20(5):1769\u20131780","journal-title":"Brief Bioinform"},{"key":"7773_CR3","doi-asserted-by":"publisher","first-page":"121108","DOI":"10.1016\/j.biomaterials.2021.121108","volume":"277","author":"Y Wang","year":"2021","unstructured":"Wang Y, Hu LF, Zhou TJ, Qi LY, Xing L, Lee J, Wang FZ, Oh YK, Jiang HL (2021) Gene therapy strategies for rare monogenic disorders with nuclear or mitochondrial gene mutations. Biomaterials 277:121108","journal-title":"Biomaterials"},{"issue":"8","key":"7773_CR4","doi-asserted-by":"publisher","first-page":"871","DOI":"10.3390\/genes11080871","volume":"11","author":"M De Rycke","year":"2020","unstructured":"De Rycke M, Berckmoes V (2020) Preimplantation genetic testing for monogenic disorders. Genes 11(8):871","journal-title":"Genes"},{"issue":"5","key":"7773_CR5","doi-asserted-by":"publisher","first-page":"1789","DOI":"10.1007\/s00404-024-07370-z","volume":"309","author":"YF Tian","year":"2024","unstructured":"Tian YF, Li MG, Yang JM, Chen HY, Lu DR (2024) Preimplantation genetic testing in the current era, a review. Arch Gynecol Obstet 309(5):1789\u20131799","journal-title":"Arch Gynecol Obstet"},{"key":"7773_CR6","doi-asserted-by":"publisher","DOI":"10.1093\/hropen\/hoaa020","author":"G Kokkali","year":"2020","unstructured":"Consortium EP, Group SI-EBW, Kokkali G, Coticchio G, Bronet F, Celebi C, Cimadomo D, Goossens V, Liss J, Nunes S et al (2020) ESHRE PGT consortium and SIG embryology good practice recommendations for polar body and embryo biopsy for PGT. Hum Reprod Open. https:\/\/doi.org\/10.1093\/hropen\/hoaa020","journal-title":"Hum Reprod Open"},{"key":"7773_CR7","doi-asserted-by":"publisher","DOI":"10.1093\/hropen\/hoaa018","author":"F Carvalho","year":"2020","unstructured":"Group EP-MW, Carvalho F, Moutou C, Dimitriadou E, Dreesen J, Gimenez C, Goossens V, Kakourou G, Vermeulen N, Zuccarello D et al (2020) ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders. Hum Reprod Open. https:\/\/doi.org\/10.1093\/hropen\/hoaa018","journal-title":"Hum Reprod Open"},{"key":"7773_CR8","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1146\/annurev-genom-090413-025352","volume":"16","author":"L Huang","year":"2015","unstructured":"Huang L, Ma F, Chapman A, Lu S, Xie XS (2015) Single-cell whole-genome amplification and sequencing: methodology and applications. Annu Rev Genomics Hum Genet 16:79\u2013102","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"6","key":"7773_CR9","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1002\/pd.109","volume":"21","author":"AR Thornhill","year":"2001","unstructured":"Thornhill AR, McGrath JA, Eady RA, Braude PR, Handyside AH (2001) A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Prenat Diagn 21(6):490\u2013497","journal-title":"Prenat Diagn"},{"key":"7773_CR10","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.22267","author":"W Liu","year":"2018","unstructured":"Liu W, Zhang H, Hu D, Lu S, Sun X (2018) The performance of MALBAC and MDA methods in the identification of concurrent mutations and aneuploidy screening to diagnose beta-thalassaemia disorders at the single- and multiple-cell levels. J Clin Lab Anal. https:\/\/doi.org\/10.1002\/jcla.22267","journal-title":"J Clin Lab Anal"},{"issue":"9","key":"7773_CR11","doi-asserted-by":"publisher","first-page":"2425","DOI":"10.1007\/s10815-021-02188-z","volume":"38","author":"Y Wang","year":"2021","unstructured":"Wang Y, Zhai F, Guan S, Yan Z, Zhu X, Kuo Y, Wang N, Zhi X, Lian Y, Huang J et al (2021) A comprehensive PGT-M strategy for ADPKD patients with de novo PKD1 mutations using affected embryo or gametes as proband. J Assist Reprod Genet 38(9):2425\u20132434","journal-title":"J Assist Reprod Genet"},{"issue":"1","key":"7773_CR12","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1080\/19396368.2018.1472315","volume":"65","author":"L Chen","year":"2019","unstructured":"Chen L, Diao Z, Xu Z, Zhou J, Yan G, Sun H (2019) The clinical application of single-sperm-based SNP haplotyping for PGD of osteogenesis imperfecta. Syst Biol Reprod Med 65(1):75\u201380","journal-title":"Syst Biol Reprod Med"},{"issue":"12","key":"7773_CR13","doi-asserted-by":"publisher","first-page":"3225","DOI":"10.1093\/humrep\/dep293","volume":"24","author":"G Altarescu","year":"2009","unstructured":"Altarescu G, Eldar-Geva T, Varshower I, Brooks B, Haran EZ, Margalioth EJ, Levy-Lahad E, Renbaum P (2009) Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations. Hum Reprod 24(12):3225\u20133229","journal-title":"Hum Reprod"},{"issue":"1","key":"7773_CR14","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.rbmo.2021.09.008","volume":"44","author":"C Huang","year":"2022","unstructured":"Huang C, Zheng B, Chen L, Diao Z, Zhou J (2022) The clinical application of single-sperm-based single-nucleotide polymorphism haplotyping for PGT of patients with genetic diseases. Reprod Biomed Online 44(1):63\u201371","journal-title":"Reprod Biomed Online"},{"issue":"2","key":"7773_CR15","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1016\/S1472-6483(10)60516-0","volume":"8","author":"N Findikli","year":"2004","unstructured":"Findikli N, kahraman S, Kumtepe Y, Donmez E, Benkhalifa M, Biricik A, Sertyel S, Berkil H, Oncu N. (2004) Assessment of DNA fragmentation and aneuploidy on poor quality human embryos. Reprod Biomed Online 8(2):196\u2013206","journal-title":"Reprod Biomed Online"},{"issue":"1","key":"7773_CR16","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1016\/S0015-0282(97)00438-X","volume":"69","author":"DK Gardner","year":"1998","unstructured":"Gardner DK, Vella P, Lane M, Wagley L, Schlenker T, Schoolcraft WB (1998) Culture and transfer of human blastocysts increases implantation rates and reduces the need for multiple embryo transfers. Fertil Steril 69(1):84\u201388","journal-title":"Fertil Steril"},{"issue":"2","key":"7773_CR17","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1016\/j.fertnstert.2010.04.003","volume":"95","author":"S Alfarawati","year":"2011","unstructured":"Alfarawati S, Fragouli E, Colls P, Stevens J, Gutierrez-Mateo C, Schoolcraft WB, Katz-Jaffe MG, Wells D (2011) The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender. Fertil Steril 95(2):520\u2013524","journal-title":"Fertil Steril"},{"issue":"10","key":"7773_CR18","first-page":"1250","volume":"38","author":"HL Xu","year":"2018","unstructured":"Xu HL, Liu YH, Yan P, He Y, Qin JC, Lou JW, Zhou WJ (2018) Rapid preimplantation genetic diagnosis of \u03b1-thalassemia SEA deletion with blastocyst cell whole genome amplification and short fragment Gap-PCR method. J South Med Univ 38(10):1250\u20131254","journal-title":"J South Med Univ"},{"issue":"4","key":"7773_CR19","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.jgg.2015.03.001","volume":"42","author":"N Li","year":"2015","unstructured":"Li N, Wang L, Wang H, Ma M, Wang X, Li Y, Zhang W, Zhang J, Cram DS, Yao Y (2015) The performance of whole genome amplification methods and next-generation sequencing for pre-implantation genetic diagnosis of chromosomal abnormalities. J Genet Genomics 42(4):151\u2013159","journal-title":"J Genet Genomics"},{"issue":"5","key":"7773_CR20","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1089\/dna.2020.6271","volume":"40","author":"J Wang","year":"2021","unstructured":"Wang J, Diao Z, Zhu L, Zhu J, Lin F, Jiang W, Fang J, Xu Z, Xing J, Zhou J et al (2021) Trophectoderm mitochondrial DNA content associated with embryo quality and day-5 euploid blastocyst transfer outcomes. DNA Cell Biol 40(5):643\u2013651","journal-title":"DNA Cell Biol"},{"issue":"3","key":"7773_CR21","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1007\/s00404-022-06588-z","volume":"306","author":"E Kadour-Peero","year":"2022","unstructured":"Kadour-Peero E, Feferkorn I, Bellemare V, Arab S, Buckett W (2022) A comparison of frozen-thawed embryo transfer protocols in 2920 single-blastocyst transfers. Arch Gynecol Obstet 306(3):887\u2013892","journal-title":"Arch Gynecol Obstet"},{"issue":"3","key":"7773_CR22","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1093\/humrep\/dex011","volume":"32","author":"E Dimitriadou","year":"2017","unstructured":"Dimitriadou E, Melotte C, Debrock S, Esteki MZ, Dierickx K, Voet T, Devriendt K, de Ravel T, Legius E, Peeraer K et al (2017) Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos. Hum Reprod 32(3):687\u2013697","journal-title":"Hum Reprod"},{"issue":"6347","key":"7773_CR23","doi-asserted-by":"publisher","first-page":"864","DOI":"10.1038\/353864a0","volume":"353","author":"MR Wallace","year":"1991","unstructured":"Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS (1991) A de novo Alu insertion results in neurofibromatosis type 1. Nature 353(6347):864\u2013866","journal-title":"Nature"},{"issue":"4","key":"7773_CR24","doi-asserted-by":"publisher","first-page":"243","DOI":"10.3928\/01913913-20190321-02","volume":"56","author":"BM Bata","year":"2019","unstructured":"Bata BM, Hodge DO, Mohney BG (2019) Neurofibromatosis type 1: a population-based study. J Pediatr Ophthalmol Strabismus 56(4):243\u2013247","journal-title":"J Pediatr Ophthalmol Strabismus"},{"issue":"1","key":"7773_CR25","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1038\/s41572-021-00298-7","volume":"7","author":"DM Milewicz","year":"2021","unstructured":"Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE (2021) Marfan syndrome. Nat Rev Dis Primers 7(1):64","journal-title":"Nat Rev Dis Primers"},{"issue":"1","key":"7773_CR26","doi-asserted-by":"publisher","first-page":"138","DOI":"10.4103\/0972-124X.94624","volume":"16","author":"K Chawla","year":"2012","unstructured":"Chawla K, Lamba AK, Faraz F, Tandon S (2012) Achondroplasia and periodontal disease. J Indian Soc Periodontol 16(1):138\u2013140","journal-title":"J Indian Soc Periodontol"},{"issue":"5","key":"7773_CR27","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.1093\/humrep\/den488","volume":"24","author":"L Wilton","year":"2009","unstructured":"Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper JC (2009) The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod 24(5):1221\u20131228","journal-title":"Hum Reprod"},{"key":"7773_CR28","doi-asserted-by":"publisher","first-page":"102075","DOI":"10.1016\/j.ceb.2022.102075","volume":"75","author":"Y Okada","year":"2022","unstructured":"Okada Y (2022) Sperm chromatin structure: Insights from in vitro to in situ experiments. Curr Opin Cell Biol 75:102075","journal-title":"Curr Opin Cell Biol"},{"issue":"1","key":"7773_CR29","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1007\/s10815-018-1340-0","volume":"36","author":"QT Tran","year":"2019","unstructured":"Tran QT, Jatsenko T, Poolamets O, Tsuiko O, Lubenets D, Reimand T, Punab M, Peters M, Salumets A (2019) Chromosomal scan of single sperm cells by combining fluorescence-activated cell sorting and next-generation sequencing. J Assist Reprod Genet 36(1):91\u201397","journal-title":"J Assist Reprod Genet"},{"issue":"3","key":"7773_CR30","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1016\/j.fertnstert.2021.04.012","volume":"116","author":"M My","year":"2021","unstructured":"My M, Yu Q, Ma M, Wang H, Tian S, Zhang W, M MJ, Liu Y, Yang Q, Pan X, et al (2021) Variant haplophasing by long-read sequencing: a new approach to preimplantation genetic testing workups. Fertil Steril 116(3):774\u2013783","journal-title":"Fertil Steril"},{"issue":"2","key":"7773_CR31","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1007\/s10815-020-02009-9","volume":"38","author":"S Liu","year":"2021","unstructured":"Liu S, Wang H, Leigh D, Cram DS, Wang L, Yao Y (2021) Third-generation sequencing: any future opportunities for PGT? J Assist Reprod Genet 38(2):357\u2013364","journal-title":"J Assist Reprod Genet"}],"container-title":["Archives of Gynecology and Obstetrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00404-024-07773-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00404-024-07773-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00404-024-07773-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T02:02:51Z","timestamp":1734487371000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00404-024-07773-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,29]]},"references-count":31,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["7773"],"URL":"https:\/\/doi.org\/10.1007\/s00404-024-07773-y","relation":{},"ISSN":["1432-0711"],"issn-type":[{"value":"1432-0711","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,29]]},"assertion":[{"value":"2 January 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 October 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"On behalf of all authors, the corresponding author states that there is no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study received ethical approval from the ethics committee of Nanjing Drum Tower Hospital (No. 2012002).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"All enrolled couples provided written informed consent. All methods were performed in accordance with relevant guidelines and regulations.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Not applicable.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}