{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T01:17:44Z","timestamp":1778635064843,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,9,25]],"date-time":"2019-09-25T00:00:00Z","timestamp":1569369600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,9,25]],"date-time":"2019-09-25T00:00:00Z","timestamp":1569369600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100011002","name":"National Natural Science Foundation of China-Yunnan Joint Fund","doi-asserted-by":"publisher","award":["81501268"],"award-info":[{"award-number":["81501268"]}],"id":[{"id":"10.13039\/501100011002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011002","name":"National Natural Science Foundation of China-Yunnan Joint Fund","doi-asserted-by":"publisher","award":["81571450"],"award-info":[{"award-number":["81571450"]}],"id":[{"id":"10.13039\/501100011002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To develop a technique for non\u2010invasive prenatal diagnosis of spinal muscular atrophy and validate its performance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Study Design<\/jats:title>\n                    <jats:p>\n                      Pregnant women with 1 copy of\n                      <jats:italic>SMN1<\/jats:italic>\n                      and male fetuses were enrolled. Seventeen women were included in test set A, and 10 of them were selected into test set B randomly and blinded. The two sets were tested independently by two different researchers blinded to fetal genotypes. Fetal DNA fractions were calculated based on the relative proportion of mapped chromosome Y sequencing reads. An algorithm was developed to decide fetal\n                      <jats:italic>SMN1<\/jats:italic>\n                      copy numbers.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The concordance rate with the results of MLPA testing of amniocyte DNA was 94.12% in test set A and 90% in set B. For all tests with a classifiable result, the percent of agreement with the results of MLPA testing of amniocyte DNA was up to 100% (25\/25).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We have developed a direct, rapid, and low\u2010cost technique, which has a potential to be utilized for first\u2010trimester non\u2010invasive prenatal diagnosis and screening for spinal muscular atrophy with considerable reliability and feasibility.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.23046","type":"journal-article","created":{"date-parts":[[2019,9,26]],"date-time":"2019-09-26T01:20:36Z","timestamp":1569460836000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Development and validation of a haplotype\u2010free technique for non\u2010invasive prenatal diagnosis of spinal muscular atrophy"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2665-0242","authenticated-orcid":false,"given":"Xianda","family":"Wei","sequence":"first","affiliation":[{"name":"Center for Medical Genetics School of Life Sciences Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weigang","family":"Lv","sequence":"additional","affiliation":[{"name":"Hunan Jiahui Genetics Hospital Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hu","family":"Tan","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics School of Life Sciences Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Desheng","family":"Liang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics School of Life Sciences Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingqian","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics School of Life Sciences Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,9,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(80)90847-8"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-13-86"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(95)80162-F"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_8_6_1","unstructured":"ThomasWP ErikaF et al.Spinal Muscular Atrophy. GeneReviews\u00ae [Internet]. 2016."},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.AOG.0000278820.54029.e3"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)02174-0"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15947"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.195"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2016.268375"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/301608"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199812103392402"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.570"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2385"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.8893"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4066"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0810373105"},{"key":"e_1_2_8_19_1","article-title":"Analysis of the size distributions of fetal and maternal cell\u2010free DNA by paired\u2010end sequencing","volume":"1279","author":"Fan HC","year":"2010","journal-title":"Clin Chem"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.c7401"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2016.03.005"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcla.23046","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.23046","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.23046","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.23046","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T12:47:34Z","timestamp":1776084454000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.23046"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,25]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["10.1002\/jcla.23046"],"URL":"https:\/\/doi.org\/10.1002\/jcla.23046","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9,25]]},"assertion":[{"value":"2019-07-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e23046"}}