{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T13:39:57Z","timestamp":1785332397555,"version":"3.55.0"},"reference-count":44,"publisher":"Wiley","issue":"32","license":[{"start":{"date-parts":[[2024,6,20]],"date-time":"2024-06-20T00:00:00Z","timestamp":1718841600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2019YFA0801400"],"award-info":[{"award-number":["2019YFA0801400"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82125013"],"award-info":[{"award-number":["82125013"]}],"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":["82288102"],"award-info":[{"award-number":["82288102"]}],"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":["82101741"],"award-info":[{"award-number":["82101741"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["advanced.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Advanced Science"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Preimplantation genetic testing (PGT) can minimize the risk of birth defects. However, the accuracy and applicability of routine PGT is confounded by uneven genome coverage and high allele drop\u2010out rate from existing single\u2010cell whole genome amplification methods. Here, a method to diagnose genetic mutations and concurrently evaluate embryo competence by leveraging the abundant mRNA transcript copies present in trophectoderm cells is developed. The feasibility of the method is confirmed with 19 donated blastocysts. Next, the method is applied to 82 embryos from 26 families with monogenic defects for simultaneous mutation detection and competence assessment. The accuracy rate of direct mutation detection is up to 95%, which is significantly higher than DNA\u2010based method. Meanwhile, this approach correctly predicted seven out of eight (87.5%) embryos that failed to implant. Of six embryos that are predicted to implant successfully, four met such expectations (66.7%). Notably, this method is superior at conditions for mutation detection that are challenging when using DNA\u2010based PGT, such as when detecting pathogenic genes with a high de novo rate, multiple pseudogenes, or an abnormal expansion of CAG trinucleotide repeats. Taken together, this study establishes the feasibility of an RNA\u2010based PGT that is also informative for assessing implantation competence.<\/jats:p>","DOI":"10.1002\/advs.202309817","type":"journal-article","created":{"date-parts":[[2024,6,20]],"date-time":"2024-06-20T10:01:18Z","timestamp":1718877678000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Concurrent Preimplantation Genetic Testing and Competence Assessment of Human Embryos by Transcriptome Sequencing"],"prefix":"10.1002","volume":"11","author":[{"given":"Yuqian","family":"Wang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Li","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohui","family":"Zhu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Yang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yujun","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Wang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuan","family":"Long","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Kuo","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Lian","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Huang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jialin","family":"Jia","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine C. L.","family":"Wong","sequence":"additional","affiliation":[{"name":"Peking\u2010Tsinghua Center for Life Sciences Tsinghua University  Beijing 100084 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiqiang","family":"Yan","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liying","family":"Yan","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2126-1376","authenticated-orcid":false,"given":"Jie","family":"Qiao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing 100191 China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital)  Beijing 100191 China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing 100191 China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing 100191 China"},{"name":"National Clinical Key Specialty Construction Program  Beijing 100191 China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,20]]},"reference":[{"key":"e_1_2_9_1_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1306555"},{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biomaterials.2021.121108"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpbi.27"},{"key":"e_1_2_9_4_1","first-page":"a17","volume":"2020","author":"Coonen E.","year":"2020","journal-title":"Hum. Reprod. Open"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dex234"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.299.6690.22"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/344768a0"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21124381"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.306.6889.1382"},{"key":"e_1_2_9_10_1","first-page":"a18","volume":"2020","author":"Carvalho F.","year":"2020","journal-title":"Hum. Reprod. Open"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11080871"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23094819"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-8889-1_4"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108301"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2017.105"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dez289"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2103613"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deaa224"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-5-24"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2013.04.035"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deac008"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-018-0753-3"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-018-0698-6"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.abj3725"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.252981.119"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dev122"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13437"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.abn1725"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-09232-8"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0266124"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2014.006"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-12-323"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btt656"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi1110s43"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12859-020-3381-5"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1254257"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aad0501"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature20123"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aai8478"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2017.10.044"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1010310"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.137570.112"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1415287111"}],"container-title":["Advanced Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/advanced.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/advs.202309817","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T14:02:11Z","timestamp":1759759331000},"score":1,"resource":{"primary":{"URL":"https:\/\/advanced.onlinelibrary.wiley.com\/doi\/10.1002\/advs.202309817"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,20]]},"references-count":44,"journal-issue":{"issue":"32","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1002\/advs.202309817"],"URL":"https:\/\/doi.org\/10.1002\/advs.202309817","archive":["Portico"],"relation":{},"ISSN":["2198-3844","2198-3844"],"issn-type":[{"value":"2198-3844","type":"print"},{"value":"2198-3844","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,20]]},"assertion":[{"value":"2023-12-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"2309817"}}