{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T12:26:38Z","timestamp":1788351998714,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>To explore the clinical application value of pre\u2010conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The results of genetic testing of infertile parents who underwent PECS in the Reproductive Medicine Center of the Second Affiliated Hospital of Zhengzhou University, China, from September 2019 to December 2021, were retrospectively analyzed. The carrier rate of single gene disease, the detection rate of high\u2010risk parents, and the clinical outcome of high\u2010risk parents were statistically analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 1372 Chinese Han ethnicity patients underwent PECS, among which 458 patients underwent the extended 108\u2010gene test, their overall carrier rate was 31.7%, and the detection rate of high\u2010risk parents was 0.3%. The highest carrier rates were <jats:italic>SLC22A<\/jats:italic> (2.4%), <jats:italic>ATP7B<\/jats:italic> (2.4%), <jats:italic>MMACHC<\/jats:italic> (2.2%), <jats:italic>PAH<\/jats:italic> (1.8%), <jats:italic>GALC<\/jats:italic> (1.8%), <jats:italic>MLC1<\/jats:italic> (1.3%), <jats:italic>UNC13D<\/jats:italic> (1.1%), <jats:italic>CAPN3<\/jats:italic> (1.1%), and <jats:italic>PKHD1<\/jats:italic> (1.1%). There were 488 women with fragile X syndrome\u2014<jats:italic>FMR1<\/jats:italic> gene detection, and 6 patients (1.2%) had <jats:italic>FMR1<\/jats:italic> gene mutation. A total of 426 patients were screened for spinal muscular atrophy\u2014<jats:italic>SMN1<\/jats:italic>, and the carrier rate was 3.5%, and the detection rate of parents' co\u2010carrier was 0.5%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Monogenic recessive hereditary diseases had a high carrier rate in the population. Pre\u2010pregnancy screening could provide good prenatal and postnatal care guidance for patients and preimplantation genetic testing for monogenic\/single gene disorders (PGT\u2010M) and prenatal diagnosis could provide more precise reproductive choices for high\u2010risk parents.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2425","type":"journal-article","created":{"date-parts":[[2024,4,2]],"date-time":"2024-04-02T06:43:36Z","timestamp":1712040216000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Clinical application value of pre\u2010pregnancy carrier screening in Chinese Han childbearing population"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4594-166X","authenticated-orcid":false,"given":"Li","family":"Tan","sequence":"first","affiliation":[{"name":"Department of Reproductive Medical Center The Second Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuefan","family":"Qi","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging The Second Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peijuan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Reproductive Genetics Pingdingshan Maternal and Child Health Hospital  Pingdingshan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LanLan","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medical Center The Second Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guo","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medical Center The Second Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongmei","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medical Center The Second Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu Xia","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medical Center The Second Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun Gai","family":"Xiang","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medical Center The Second Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4]]},"reference":[{"key":"e_1_2_14_2_1","first-page":"142","article-title":"Polymorphism analysis of FMR1 gene (CGG)n repeat sequencesin 1035 pre\u2010pregnancy women","volume":"2","author":"Chen G. Q.","year":"2019","journal-title":"Chinese Journal of Birth Health and Heredity"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001951"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.8"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0472-7"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2016.11139"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.159"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12195"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.138115.112"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0025-6196(11)63220-5"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.114"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"issue":"2","key":"e_1_2_14_14_1","first-page":"13","article-title":"Mental Retardation 1 gene CGG expansion sequence mutation detection and analysis in Urumqi Han women of childbearing age","volume":"25","author":"Liu F.","year":"2017","journal-title":"Chinese Journal of Birth Health and Heredity"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2011.0149"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2015.07.1166"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"issue":"6","key":"e_1_2_14_18_1","first-page":"844","article-title":"Tri\u2010primer\u2010florescence PCR\u2010Sanger sequencing method for screening of full and pre\u2010mutations of FMRI gene","volume":"33","author":"Sha S.","year":"2016","journal-title":"Chinese Journal of Medical Genetics"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0017067"},{"issue":"4","key":"e_1_2_14_20_1","first-page":"467","article-title":"Screening for spinal muscular atrophy mutation carriers among 4931 pregnant women from Liuzhou region of Guangxi","volume":"35","author":"Tan J.","year":"2018","journal-title":"Chinese Journal of Medical Genetics"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_14_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-013-0169-6"},{"key":"e_1_2_14_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1340"},{"key":"e_1_2_14_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2014.05.004"},{"issue":"6","key":"e_1_2_14_25_1","first-page":"756","article-title":"Clinical application of preconception expandedscreening for carriers of monogenic disease","volume":"30","author":"Zhao Q. Z.","year":"2021","journal-title":"Journal of Reproductive Medicine"},{"issue":"2","key":"e_1_2_14_26_1","first-page":"241","article-title":"Carrier screening and prenatal diagnosis of spinal muscular atrophy among 19297 pregnant women from Foshan region, Guangdong province","volume":"30","author":"Zhou C.","year":"2022","journal-title":"Chinese Journal of Birth Health and Heredity"},{"issue":"11","key":"e_1_2_14_27_1","first-page":"1365","article-title":"Advances in carier screening for the monogenetic disease","volume":"28","author":"Zhuang C.","year":"2019","journal-title":"Journal of Reproductive Medicine"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2425","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T10:45:04Z","timestamp":1714128304000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2425"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1002\/mgg3.2425"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2425","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4]]},"assertion":[{"value":"2023-08-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2425"}}