{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T05:10:29Z","timestamp":1778562629281,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Myotonic dystrophy type 1 (DM1) is an autosomal dominant neurodevelopmental disorder caused by CTG repeat expansion in the\n                      <jats:italic>DMPK<\/jats:italic>\n                      gene. Although the clinical classification of DM1 is determined by the CTG repeat length in\n                      <jats:italic>DMPK<\/jats:italic>\n                      , conventional sizing relies on Southern blotting, which is a suboptimal method in prenatal and PGD contexts as it requires large amounts of genomic DNA. We here evaluated the utility of nanopore long read sequencing (LRS) for DM1 diagnosis in these contexts.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      LRS was performed with adaptive sampling or CRISPR\/Cas9\u2010mediated enrichment targeting\n                      <jats:italic>DMPK<\/jats:italic>\n                      . The use of whole genome amplified DNA (WGA\u2010DNA) prepared with RepliG was also assessed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Adaptive sampling and Cas9\u2010based LRS enabled detection of both the normal and expanded alleles. Further, LRS with CRISPR\/Cas9\u2010mediated enrichment improved efficiency and enabled accurate sizing of expanded CTG repeats exceeding 1000 units. In contrast, the use of whole genome amplified DNA prepared with RepliG did not permit reliable CTG repeat sizing, even when combined with adaptive sampling or CRISPR\/Cas9.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Nanopore sequencing can potentially replace Southern blotting for prenatal DM1 diagnosis, including repeat sizing. However, further improvement is needed for PGD using WGA\u2010DNA.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70026","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T01:10:16Z","timestamp":1763601016000},"page":"251-259","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Potential of Nanopore Long Read Sequencing for Determining CTG Repeat Lengths in the\n                    <i>DMPK1<\/i>\n                    Gene During Prenatal or Preimplantation Genetic Testing"],"prefix":"10.1002","volume":"46","author":[{"given":"Yui","family":"Shichiri","sequence":"first","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health University  Aichi Japan"},{"name":"Department of Clinical Genetics Fujita Health University Hospital  Aichi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidehito","family":"Inagaki","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health University  Aichi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7110-980X","authenticated-orcid":false,"given":"Tasuku","family":"Mariya","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomics Sapporo Medical University School of Medicine  Hokkaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuri","family":"Murase","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health University  Aichi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Sugimoto","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health University  Aichi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Sugihara","sequence":"additional","affiliation":[{"name":"Open Facility Center and Oncology Innovation Center Research Promotion Headquarters Fujita Health University  Aichi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8295-0119","authenticated-orcid":false,"given":"Haruki","family":"Nishizawa","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Fujita Health University School of Medicine  Aichi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5690-5218","authenticated-orcid":false,"given":"Hiroki","family":"Kurahashi","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health University  Aichi Japan"},{"name":"Department of Clinical Genetics Fujita Health University Hospital  Aichi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,19]]},"reference":[{"key":"e_1_2_11_2_1","unstructured":"Online Mendelian Inheritance in Man (OMIM). \u201cMyotonic Dystrophy Type 1; DM1 \u201d (2025) https:\/\/omim.org\/entry\/160900."},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.6.1218"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2019.104533"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1627"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.2.105"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.108"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010022\u201000331\u2010y"},{"key":"e_1_2_11_9_1","unstructured":"Ligation sequencing DNA V14 (SQK\u2010LSK114).Oxford Nanopore Technologies (April 2022). 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