{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T11:47:01Z","timestamp":1782301621445,"version":"3.54.5"},"reference-count":42,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T00:00:00Z","timestamp":1677110400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Shanghai Shen Kang Hospital Development Center Municipal Hospital New Frontier Technology Joint Project","award":["SHDC12017105"],"award-info":[{"award-number":["SHDC12017105"]}]},{"name":"Shanghai Shen Kang Hospital Development Center Municipal Hospital New Frontier Technology Joint Project","award":["cstc2020jcyj-zdxmX0011"],"award-info":[{"award-number":["cstc2020jcyj-zdxmX0011"]}]},{"name":"Shanghai Shen Kang Hospital Development Center Municipal Hospital New Frontier Technology Joint Project","award":["cstc2020jcyj-msxmX0012"],"award-info":[{"award-number":["cstc2020jcyj-msxmX0012"]}]},{"name":"Key project of Chongqing Natural Science Foundation","award":["SHDC12017105"],"award-info":[{"award-number":["SHDC12017105"]}]},{"name":"Key project of Chongqing Natural Science Foundation","award":["cstc2020jcyj-zdxmX0011"],"award-info":[{"award-number":["cstc2020jcyj-zdxmX0011"]}]},{"name":"Key project of Chongqing Natural Science Foundation","award":["cstc2020jcyj-msxmX0012"],"award-info":[{"award-number":["cstc2020jcyj-msxmX0012"]}]},{"name":"Chongqing Natural Science Foundation","award":["SHDC12017105"],"award-info":[{"award-number":["SHDC12017105"]}]},{"name":"Chongqing Natural Science Foundation","award":["cstc2020jcyj-zdxmX0011"],"award-info":[{"award-number":["cstc2020jcyj-zdxmX0011"]}]},{"name":"Chongqing Natural Science Foundation","award":["cstc2020jcyj-msxmX0012"],"award-info":[{"award-number":["cstc2020jcyj-msxmX0012"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>During the period of 2018\u20132020, we first combined reported low-pass whole genome sequencing and NGS-based STR tests for miscarriage samples analysis. Compared with G-banding karyotyping, the system increased the detection rate of chromosomal abnormalities in miscarriage samples to 56.4% in 500 unexplained recurrent spontaneous abortions. In this study, a total of 386 STR loci were developed on twenty-two autosomes and two sex chromosomes (X and Y chromosomes), which can help to distinguish triploidy, uniparental diploidy and maternal cell contamination and can trace the parental origin of erroneous chromosomes. It is not possible to accomplish this with existing methods of detection in miscarriage samples. Among the tested aneuploid errors, the most frequently detected error was trisomy (33.4% in total and 59.9% in the error chromosome group). In the trisomy samples, 94.7% extra chromosomes were of maternal origin and 5.31% were of paternal origin. This novel system improves the genetic analysis method of miscarriage samples and provides more reference information for clinical pregnancy guidance.<\/jats:p>","DOI":"10.3390\/jcm12051809","type":"journal-article","created":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T01:37:52Z","timestamp":1677202672000},"page":"1809","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A Novel System for the Detection of Spontaneous Abortion-Causing Aneuploidy and Its Erroneous Chromosome Origins through the Combination of Low-Pass Copy Number Variation Sequencing and NGS-Based STR Tests"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9984-593X","authenticated-orcid":false,"given":"Caixia","family":"Lei","sequence":"first","affiliation":[{"name":"Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Liao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai 200438, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwei","family":"Zhao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai 200438, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9893-5976","authenticated-orcid":false,"given":"Zhoukai","family":"Long","sequence":"additional","affiliation":[{"name":"Shanghai WeHealth BioMedical Technology Co., Ltd., Shanghai 201318, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saijuan","family":"Zhu","sequence":"additional","affiliation":[{"name":"Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junping","family":"Wu","sequence":"additional","affiliation":[{"name":"Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5720-5109","authenticated-orcid":false,"given":"Min","family":"Xiao","sequence":"additional","affiliation":[{"name":"Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhou","sequence":"additional","affiliation":[{"name":"Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuo","family":"Zhang","sequence":"additional","affiliation":[{"name":"Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lianbin","family":"Li","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology Research Institute, Chongqing 404100, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yijian","family":"Zhu","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology Research Institute, Chongqing 404100, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daru","family":"Lu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai 200438, China"},{"name":"NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology Research Institute, Chongqing 404100, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingmin","family":"Yang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai 200438, China"},{"name":"Shanghai WeHealth BioMedical Technology Co., Ltd., Shanghai 201318, China"},{"name":"NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology Research Institute, Chongqing 404100, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxi","family":"Sun","sequence":"additional","affiliation":[{"name":"Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China"},{"name":"Key Laboratory of Female Reproductive Endocrine Related Diseases, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1038\/35066065","article-title":"To err (meiotically) is human: The genesis of human aneuploidy","volume":"2","author":"Hassold","year":"2001","journal-title":"Nat. Rev. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"f3676","DOI":"10.1136\/bmj.f3676","article-title":"Diagnosis and management of first trimester miscarriage","volume":"346","author":"Jurkovic","year":"2013","journal-title":"BMJ"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/gim.2016.69","article-title":"Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: Outcomes, benefits, and challenges","volume":"19","author":"Stephenson","year":"2017","journal-title":"Genet. Med."},{"key":"ref_4","first-page":"264","article-title":"The association between vaginal bacterial composition and miscarriage: A nested case-control study","volume":"127","author":"Bobdiwala","year":"2022","journal-title":"BJOG"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1053\/j.semperi.2018.12.004","article-title":"Endocrine causes of recurrent pregnancy loss","volume":"43","author":"Amrane","year":"2019","journal-title":"Semin. Perinatol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1136\/oemed-2018-105592","article-title":"Night work and miscarriage: A Danish nationwide register-based cohort study","volume":"76","author":"Begtrup","year":"2019","journal-title":"Occup. Environ. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/s00428-010-0883-y","article-title":"Decidual vascular patterns in first-trimester abortions","volume":"456","author":"Musizzano","year":"2010","journal-title":"Virchows Arch."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1186\/s12958-018-0415-1","article-title":"Gestational hormone trajectories and early pregnancy failure: A reassessment","volume":"16","author":"Whittaker","year":"2018","journal-title":"Reprod. Biol. Endocrinol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1093\/humupd\/dmz015","article-title":"Potential genetic causes of miscarriage in euploid pregnancies: A systematic review","volume":"25","author":"Colley","year":"2019","journal-title":"Hum. Reprod. Update"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1159\/000502304","article-title":"Incidence and Spectrum of Chromosome Abnormalities in Miscarriage Samples: A Retrospective Study of 330 Cases","volume":"158","author":"Gug","year":"2019","journal-title":"Cytogenet. Genome Res."},{"key":"ref_11","first-page":"111","article-title":"Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings","volume":"31","author":"Yakut","year":"2015","journal-title":"Turk. Patoloji. Derg."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1097\/GRF.0b013e31802f1c28","article-title":"Evaluation and management of recurrent early pregnancy loss","volume":"50","author":"Stephenson","year":"2007","journal-title":"Clin. Obstet. Gynecol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"3431","DOI":"10.2174\/092986710793176302","article-title":"Genetic factors as a cause of miscarriage","volume":"17","author":"Suzumori","year":"2010","journal-title":"Curr. Med. Chem."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"32","DOI":"10.5582\/bst.2017.01296","article-title":"Chromosomal karyotype in chorionic villi of recurrent spontaneous abortion patients","volume":"12","author":"Du","year":"2018","journal-title":"Biosci. Trends"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1002\/uog.20198","article-title":"Added value of chromosomal microarray analysis over conventional karyotyping in stillbirth work-up: Systematic review and meta-analysis","volume":"53","author":"Pauta","year":"2019","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_16","first-page":"16","article-title":"Comparison between fluorescent in-situ hybridisation and array comparative genomic hybridisation in preimplantation genetic diagnosis in translocation carriers","volume":"21","author":"Lee","year":"2015","journal-title":"Hong Kong Med. J."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1002\/pd.1132","article-title":"Fluorescent in situ hybridization (FISH) on paraffin-embedded placental tissues as an adjunct for understanding the etiology of early spontaneous abortion","volume":"25","author":"Lescoat","year":"2005","journal-title":"Prenat. Diagn."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/14767058.2017.1367379","article-title":"Exploring the cause of early miscarriage with SNP-array analysis and karyotyping","volume":"32","author":"Qu","year":"2019","journal-title":"J. Matern. Fetal Neonatal Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/j.fertnstert.2015.01.029","article-title":"Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss","volume":"103","author":"Ramasamy","year":"2015","journal-title":"Fertil. Steril."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1111\/evj.12281","article-title":"A diagnostic evaluation of real-time PCR, fluorescent antibody and microscopic agglutination tests in cases of equine leptospiral abortion","volume":"47","author":"Erol","year":"2015","journal-title":"Equine Vet. J."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1007\/s00404-014-3403-5","article-title":"Molecular analysis of miscarriage products using multiplex ligation-dependent probe amplification (MLPA): Alternative to conventional karyotype analysis","volume":"291","author":"Kim","year":"2015","journal-title":"Arch. Gynecol. Obstet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1111\/cge.12727","article-title":"First-trimester spontaneous pregnancy loss\u2014Molecular analysis using multiplex ligation-dependent probe amplification","volume":"89","author":"Zimowski","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Talevich, E., Shain, A.H., Botton, T., and Bastian, B.C. (2016). CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing. PLoS Comput. Biol., 12.","DOI":"10.1371\/journal.pcbi.1004873"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1177\/0300060518818020","article-title":"Prevalence of chromosomal abnormalities identified by copy number variation sequencing in high-risk pregnancies, spontaneous abortions, and suspected genetic disorders","volume":"47","author":"Zhang","year":"2019","journal-title":"J. Int. Med. Res."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1002\/uog.14849","article-title":"Traditional karyotyping vs. copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage","volume":"46","author":"Liu","year":"2005","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1095\/biolreprod.114.120576","article-title":"Validation of copy number variation sequencing for detecting chromosome imbalances in human preimplantation embryos","volume":"91","author":"Wang","year":"2014","journal-title":"Biol. Reprod."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/B978-0-12-387665-2.00007-9","article-title":"Homologous recombination in eukaryotes","volume":"110","author":"Amunugama","year":"2012","journal-title":"Prog. Mol. Biol. Transl. Sci."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"2520","DOI":"10.1080\/15384101.2018.1553355","article-title":"The biochemistry of early meiotic recombination intermediates","volume":"17","author":"Crickard","year":"2018","journal-title":"Cell Cycle"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/ng.3306","article-title":"Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates","volume":"47","author":"Ottolini","year":"2015","journal-title":"Nat. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1256442","DOI":"10.1126\/science.1256442","article-title":"Recombination initiation maps of individual human genomes","volume":"346","author":"Pratto","year":"2014","journal-title":"Science"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1159\/000133325","article-title":"Evidence for genetic etiology of heteroploidy in embryos of the Japanese quail (Coturnix coturnix japonica)","volume":"60","author":"Fechheimer","year":"1992","journal-title":"Cytogenet. Cell Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1111\/j.1469-1809.1978.tb00930.x","article-title":"The origin of human triploids","volume":"42","author":"Jacobs","year":"1978","journal-title":"Ann. Hum. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1086\/324468","article-title":"The origin of abnormalities in recurrent aneuploidy\/polyploidy","volume":"69","author":"Robinson","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1755-8166-7-43","article-title":"Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy","volume":"7","author":"Bug","year":"2014","journal-title":"Mol. Cytogenet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s13000-016-0471-9","article-title":"Abnormal villous morphology mimicking a hydatidiform mole associated with paternal trisomy of chromosomes 3, 7, 8 and unipaternal disomy of chromosome 11","volume":"11","author":"Sebire","year":"2016","journal-title":"Diagn. Pathol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1080\/01443615.2017.1398220","article-title":"Prenatal diagnosis of double trisomy 48, XXX, +18; case report","volume":"38","author":"Ercan","year":"2018","journal-title":"J. Obstet. Gynaecol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/s12519-015-0005-7","article-title":"Double trisomy 48, XXX, +18 with multiple dysmorphic features","volume":"11","author":"Jiang","year":"2015","journal-title":"World J. Pediatr."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/s004390050638","article-title":"Double trisomy in spontaneous abortions","volume":"101","author":"Reddy","year":"1997","journal-title":"Hum. Genet."},{"key":"ref_39","first-page":"2839765","article-title":"Placental Histomorphology in a Case of Double Trisomy 48, XXX, +18","volume":"2018","author":"Shah","year":"2018","journal-title":"Case Rep. Pathol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/s12041-018-0916-x","article-title":"Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype","volume":"97","year":"2018","journal-title":"J. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1111\/cga.12287","article-title":"Survival in double aneuploidy involving trisomy 18 and sex chromosome trisomy: A case report of a 27-month-old child and a review of the literature","volume":"59","author":"Watabe","year":"2019","journal-title":"Congenit. Anom."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1002\/ajmg.a.20340","article-title":"Double trisomy","volume":"124A","author":"Li","year":"2004","journal-title":"Am. J. Med. Genet. A"}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/5\/1809\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:40:59Z","timestamp":1760121659000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/5\/1809"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,23]]},"references-count":42,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,3]]}},"alternative-id":["jcm12051809"],"URL":"https:\/\/doi.org\/10.3390\/jcm12051809","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,23]]}}}