{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T17:59:46Z","timestamp":1762624786896,"version":"3.41.2"},"reference-count":29,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,16]],"date-time":"2022-04-16T00:00:00Z","timestamp":1650067200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2016YFC1000707"],"award-info":[{"award-number":["2016YFC1000707"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Noninvasive prenatal diagnosis (NIPD) based on cell\u2010free DNA (cfDNA) has been introduced into the clinical application for some monogenic disorders but not for tuberous sclerosis (TSC) yet, which is an autosomal dominant disease caused by various variations in <jats:italic>TSC1<\/jats:italic> or <jats:italic>TSC2<\/jats:italic> gene. We aimed to explore the feasibility of NIPD on TSC.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We recruited singleton pregnancies at risk of TSC from 14 families with a proband child. Definitive NIPD for TSC was performed using targeted next\u2010generation sequencing of cfDNA in parallel with maternal white blood cell DNA (wbcDNA). The NIPD results were validated by amniocentesis or postnatal gene testing and follow\u2010up of the born children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Missense mutations, nonsense mutations, frameshift mutations, and splice\u2010site variants which were obtained through de\u2010novo, maternal, or paternal inheritance were included. The mean and minimum gestational weeks of NIPD were 17.18\u2009\u00b1\u20095.83 and 8\u2009weeks, respectively. The NIPD results were 100% consistent with the amniocentesis or postnatal gene testing and follow\u2010up of the born children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study demonstrates that NIPD based on cfDNA is feasible for TSC, but required to be confirmed with more samples. Studies on TSC can contribute to the application and promotion of NIPD for monogenic disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1952","type":"journal-article","created":{"date-parts":[[2022,4,16]],"date-time":"2022-04-16T10:58:30Z","timestamp":1650106710000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Noninvasive prenatal diagnosis based on cell\u2010free <scp>DNA<\/scp> for tuberous sclerosis: A pilot study"],"prefix":"10.1002","volume":"10","author":[{"given":"Xiao\u2010Yan","family":"Yang","sequence":"first","affiliation":[{"name":"Medical School of Chinese PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics The First Medical Center of Chinese PLA General Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Medical Center of Chinese PLA General Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang\u2010Yang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Medical Center of Chinese PLA General Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan\u2010Ping","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Medical Center of Chinese PLA General Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiu\u2010Hong","family":"Wang","sequence":"additional","affiliation":[{"name":"Medical School of Chinese PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics The First Medical Center of Chinese PLA General Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan\u2010Qin","family":"You","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Medical Center of Chinese PLA General Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao\u2010Xiao","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Medical Center of Chinese PLA General Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Bai","sequence":"additional","affiliation":[{"name":"Beijing Scisoon Biotechnology Co., Ltd  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nan","family":"Fang","sequence":"additional","affiliation":[{"name":"Beijing Scisoon Biotechnology Co., Ltd  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7233-9378","authenticated-orcid":false,"given":"Li\u2010Ping","family":"Zou","sequence":"additional","affiliation":[{"name":"Medical School of Chinese PLA General Hospital  Beijing China"},{"name":"Department of Pediatrics The First Medical Center of Chinese PLA General Hospital  Beijing China"},{"name":"Beijing Institute for Brain Disorders Center for Brain Disorders Research Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,4,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14636"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD003252.pub2"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/gim.0b013e31803068c7"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010019\u201002003\u20101"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100636\u20105"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00204"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.acc.2016.05.004"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u20103\u2010319\u201042044\u20108_14"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuropharm.2012.05.015"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm3010176"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts549"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010020\u201000155\u20108"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3001720"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(97)02174\u20100"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/48.3.421"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0810373105"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.08.001"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31651"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2016.07.003"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/302322"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20353"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010genom\u2010083118\u2010015354"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2020.03.008"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1341"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2019.304238"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2020.08.001"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1086\/302412"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591\u2010018\u20100334\u2010x"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.287302"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1952","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1952","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1952","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T12:09:15Z","timestamp":1692878955000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1952"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,16]]},"references-count":29,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1002\/mgg3.1952"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1952","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2022,4,16]]},"assertion":[{"value":"2021-12-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1952"}}