{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T16:10:56Z","timestamp":1778602256061,"version":"3.51.4"},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"3","license":[{"start":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T00:00:00Z","timestamp":1764720000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpm-2025-0240_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To determine the genetic causes of miscarriage by analyzing products of conception (POC).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpm-2025-0240_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Chromosomal microarray (CMA) using the Affymetrix Cytoscan HD array was performed in 172 POC specimens from women experiencing spontaneous miscarriage before 20\u00a0weeks of gestation to detect aneuploidies, copy number variants (CNVs), and loss of heterozygosity (LOH). Whole exome sequencing (WES) with Roche KAPA HyperExome V2 probes was used for cases where CMA results were normal.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpm-2025-0240_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Common clinical indications included recurrent pregnancy loss, first-time miscarriage, absence of cardiac activity, intrauterine death, and fetal growth restriction (FGR), making up 72.55\u202f% of cases. CMA identified chromosomal abnormalities in 38.37\u202f% of samples, with numerical anomalies in 16.86\u202f% and structural anomalies in 21.51\u202f%. Turner syndrome (5.8\u202f%) and various trisomies (5.8\u202f%) were frequent numerical anomalies. Mosaicism and LOH were observed in 11.04 and 2.91\u202f% of cases. WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46\u202f% diagnostic yield. K-means clustering grouped 17 of these genes into three pathways: chondrocyte differentiation, fibrin clot formation, and Ehlers-Danlos syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpm-2025-0240_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Combining CMA and WES provides a diagnostic yield of 48.83\u202f%, offering a powerful approach to uncover genetic causes of pregnancy loss and guide clinical\u00a0care.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpm-2025-0240","type":"journal-article","created":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T04:56:02Z","timestamp":1764737762000},"page":"507-514","source":"Crossref","is-referenced-by-count":0,"title":["Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens"],"prefix":"10.1515","volume":"54","author":[{"given":"Kanaka Durga Devi","family":"Yadam Reddy","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics and Genomics , Yoda Diagnostics Pvt Ltd , Hyderabad , 500016 , India"},{"name":"Department of Biotechnology , M.G.R. College , Krishnagiri , TamilNadu , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suresh","family":"Kumaraswamy","sequence":"additional","affiliation":[{"name":"Department of Biotechnology , M.G.R. College , Krishnagiri , TamilNadu , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Palanichamy","family":"Palanikumar","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Genomics , Yoda Diagnostics Pvt Ltd , Hyderabad , 500016 , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tajamul","family":"Hussain","sequence":"additional","affiliation":[{"name":"Center of Excellence in Biotechnology Research , King Saud University , Riyadh , Saudi Arabia"},{"name":"Research Chair for Biomedical Application of Nanomaterials, Biochemistry Department , College of Science, King Saud University , Riyadh , Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaik Mohammad","family":"Naushad","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Genomics , Yoda Diagnostics Pvt Ltd , Hyderabad , 500016 , India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,12,3]]},"reference":[{"key":"2026051215133581055_j_jpm-2025-0240_ref_001","doi-asserted-by":"crossref","unstructured":"Quenby, S, Gallos, ID, Dhillon-Smith, RK, Podesek, M, Stephenson, MD, Fisher, J, et al.. Miscarriage matters: the epidemiological, physical, psychological, and economic costs of early pregnancy loss. Lancet 2021;397:1658\u201367. https:\/\/doi.org\/10.1016\/S0140-6736(21)00682-6.","DOI":"10.1016\/S0140-6736(21)00682-6"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_002","doi-asserted-by":"crossref","unstructured":"Matuszewska, KE, Bukowska-Olech, E, Piechota, M, Staniek-\u0141acna, K, Drews, K, Wi\u0119ckowska, B, et al.. From chromosomal aberrations to mutations in individual genes\u00a0\u2013\u00a0the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages. J\u00a0Matern Fetal Neonatal Med 2024;37:2364249. https:\/\/doi.org\/10.1080\/14767058.2024.2364249.","DOI":"10.1080\/14767058.2024.2364249"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_003","doi-asserted-by":"crossref","unstructured":"Magnus, MC, Wilcox, AJ, Morken, NH, Weinberg, CR, H\u00e5berg, SE. Role of maternal age and pregnancy history in risk of miscarriage: prospective register based study. BMJ 2019;364:l869. https:\/\/doi.org\/10.1136\/bmj.l869.","DOI":"10.1136\/bmj.l869"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_004","doi-asserted-by":"crossref","unstructured":"du Foss\u00e9, NA, van der Hoorn, MP, van Lith, JMM, le Cessie, S, Lashley, EELO. Advanced paternal age is associated with an increased risk of spontaneous miscarriage: a systematic review and meta-analysis. Hum Reprod Update 2020;26:650\u201369. https:\/\/doi.org\/10.1093\/humupd\/dmaa010.","DOI":"10.1093\/humupd\/dmaa010"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_005","doi-asserted-by":"crossref","unstructured":"Dhillon, RK, Hillman, SC, Morris, RK, McMullan, D, Williams, D, Coomarasamy, A, et al.. Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis. BJOG 2014;121:11\u201321. https:\/\/doi.org\/10.1111\/1471-0528.12382.","DOI":"10.1111\/1471-0528.12382"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_006","doi-asserted-by":"crossref","unstructured":"Kutteh, WH, Papas, RS, Maisenbacher, MK, Dahdouh, EM. Role of genetic analysis of products of conception and PGT in managing early pregnancy loss. Reprod Biomed Online 2024;49:103738. https:\/\/doi.org\/10.1016\/j.rbmo.2023.103738.","DOI":"10.1016\/j.rbmo.2023.103738"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_007","doi-asserted-by":"crossref","unstructured":"Zhao, C, Chai, H, Zhou, Q, Wen, J, Reddy, UM, Kastury, R, et al.. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genet Med 2021;23:435\u201342. https:\/\/doi.org\/10.1038\/s41436-020-01008-6.","DOI":"10.1038\/s41436-020-01008-6"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_008","doi-asserted-by":"crossref","unstructured":"Gou, L, Liu, T, Wang, Y, Wu, Q, Hu, S, Dong, B, et al.. Clinical utilization of chromosomal microarray analysis for the genetic analysis in subgroups of pregnancy loss. J\u00a0Matern Fetal Neonatal Med 2022;35:4404\u201311. https:\/\/doi.org\/10.1080\/14767058.2020.1849126.","DOI":"10.1080\/14767058.2020.1849126"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_009","doi-asserted-by":"crossref","unstructured":"Kato, T, Miyai, S, Suzuki, H, Murase, Y, Ota, S, Yamauchi, H, et al.. Usefulness of combined NGS and QF-PCR analysis for product of conception karyotyping. Reprod Med Biol 2022;21:e12449. https:\/\/doi.org\/10.1002\/rmb2.12449.","DOI":"10.1002\/rmb2.12449"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_010","doi-asserted-by":"crossref","unstructured":"Sahoo, T, Dzidic, N, Strecker, MN, Commander, S, Travis, MK, Doherty, C, et al.. Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges. Genet Med 2017;19:83\u20139. https:\/\/doi.org\/10.1038\/gim.2016.69.","DOI":"10.1038\/gim.2016.69"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_011","doi-asserted-by":"crossref","unstructured":"Gajjar, K, Patel, A, Patel, B, Chettiar, S, Jhala, D. Array comparative genomic hybridization analysis of products of conception in recurrent pregnancy loss for specific anomalies detected by USG. Reprod Fertil 2023;4:e220092. https:\/\/doi.org\/10.1530\/RAF-22-0092.","DOI":"10.1530\/RAF-22-0092"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_012","doi-asserted-by":"crossref","unstructured":"Ouchi, N, Takeshita, T, Kasano, S, Yokote, R, Yonezawa, M, Kurashina, R, et al.. Maternal cell contamination in embryonic chromosome analysis of missed abortions. J\u00a0Obstet Gynaecol Res 2022;48:1641\u20137. https:\/\/doi.org\/10.1111\/jog.15249.","DOI":"10.1111\/jog.15249"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_013","doi-asserted-by":"crossref","unstructured":"Lei, D, Zhang, XY, Zheng, PS. Recurrent pregnancy loss: fewer chromosomal abnormalities in products of conception? A meta-analysis. J\u00a0Assist Reprod Genet 2022;39:559\u201372. https:\/\/doi.org\/10.1007\/s10815-022-02414-2.","DOI":"10.1007\/s10815-022-02414-2"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_014","doi-asserted-by":"crossref","unstructured":"Zhou, Q, Wu, SY, Amato, K, DiAdamo, A, Li, P. Spectrum of cytogenomic abnormalities revealed by array comparative genomic hybridization on products of conception culture failure and normal karyotype samples. J\u00a0Genet Genomics 2016;43:121\u201331. https:\/\/doi.org\/10.1016\/j.jgg.2016.02.002.","DOI":"10.1016\/j.jgg.2016.02.002"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_015","doi-asserted-by":"crossref","unstructured":"Xue, H, Guo, Q, Yu, A, Lin, M, Chen, X, Xu, L, et al.. Genetic analysis of chorionic villus tissues in early missed abortions. Sci Rep 2023;13:21719. https:\/\/doi.org\/10.1038\/s41598-023-48358-0.","DOI":"10.1038\/s41598-023-48358-0"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_016","doi-asserted-by":"crossref","unstructured":"Jia, CW, Wang, L, Lan, YL, Song, R, Zhou, LY, Yu, L, et al.. Aneuploidy in early miscarriage and its related factors. Chin Med J (Engl). 2015;128:2772\u20136. https:\/\/doi.org\/10.4103\/0366-6999.167352.","DOI":"10.4103\/0366-6999.167352"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_017","doi-asserted-by":"crossref","unstructured":"Blaicher, W, Ulm, B, Ulm, MR, Hengstschl\u00e4ger, M, Deutinger, J, Bernaschek, G, et al.. Dandy-walker malformation as sonographic marker for fetal triploidy. Ultraschall Med 2002;23:129\u201333. https:\/\/doi.org\/10.1055\/s-2002-25189.","DOI":"10.1055\/s-2002-25189"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_018","doi-asserted-by":"crossref","unstructured":"Wang, HL, Wu, B, Guo, KM, Tian, RH. Psychological characteristics of and counseling for carriers of structural chromosome abnormalities. Genet Mol Res. 2016;15. https:\/\/doi.org\/10.4238\/gmr.15028159.","DOI":"10.4238\/gmr.15028159"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_019","doi-asserted-by":"crossref","unstructured":"Kasak, L, Rull, K, Yang, T, Roden, DM, Laan, M. Recurrent pregnancy loss and concealed long-QT syndrome. J\u00a0Am Heart Assoc 2021;10:e021236. https:\/\/doi.org\/10.1161\/JAHA.121.021236.","DOI":"10.1161\/JAHA.121.021236"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_020","doi-asserted-by":"crossref","unstructured":"Albertini, L, Ezekian, J, Care, M, Silversides, C, Sermer, M, Gollob, MH, et al.. Assessment of severity of long QT syndrome phenotype and risk of fetal death. J\u00a0Am Heart Assoc 2023;12:e029407. https:\/\/doi.org\/10.1161\/JAHA.122.029407.","DOI":"10.1161\/JAHA.122.029407"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_021","doi-asserted-by":"crossref","unstructured":"Cao, J, Chen, A, Tian, L, Yan, L, Li, H, Zhou, B, et al.. Application of whole exome sequencing in fetal cases with skeletal abnormalities. Heliyon 2022;8:e09819. https:\/\/doi.org\/10.1016\/j.heliyon.2022.e09819.","DOI":"10.1016\/j.heliyon.2022.e09819"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_022","doi-asserted-by":"crossref","unstructured":"Kraft, J, Sunder-Plassmann, R, Mannhalter, C, Quehenberger, P, Tews, G, Langer, M, et al.. Women with homozygous AT deficiency type II heparin-binding site (HBS) are at high risk of pregnancy loss and pregnancy complications. Ann Hematol 2017;96:1023\u201331. https:\/\/doi.org\/10.1007\/s00277-017-2965-2.","DOI":"10.1007\/s00277-017-2965-2"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_023","doi-asserted-by":"crossref","unstructured":"Anum, EA, Hill, LD, Pandya, A, Strauss, JF3rd. Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity. Placenta 2009;30:207\u201315. https:\/\/doi.org\/10.1016\/j.placenta.2008.12.007.","DOI":"10.1016\/j.placenta.2008.12.007"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_024","doi-asserted-by":"crossref","unstructured":"Qin, M, Chen, W, Hua, L, Meng, Y, Wang, J, Li, H, et al.. DNA methylation abnormalities induced by advanced maternal age in villi prime a high-risk state for spontaneous abortion. Clin Epigenet 2023;15:44. https:\/\/doi.org\/10.1186\/s13148-023-01432-w.","DOI":"10.1186\/s13148-023-01432-w"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_025","doi-asserted-by":"crossref","unstructured":"Peregrino, PFM, Gomes, A, Fujii, M, Bonetti, TCS, Riboldi, M, Monteleone, PAA, et al.. The impact of balanced reciprocal translocation\u00a0\u2013\u00a046,XX,t(7;17)(p13;q24) probably involving the SOX9 gene in the in\u00a0vitro fertilization with own oocytes evaluated by preimplantation genetic testing or donated oocytes. JBRA Assist Reprod. 2019;23:68\u201371. https:\/\/doi.org\/10.5935\/1518-0557.20180066.","DOI":"10.5935\/1518-0557.20180066"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_026","doi-asserted-by":"crossref","unstructured":"Iyer, NS, Mossayebi, MH, Gao, TJ, Haizler-Cohen, L, Di Mascio, D, McLaren, RAJr, et al.. Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: a systematic review. Mol Genet Genomic Med 2024;12:e2491. https:\/\/doi.org\/10.1002\/mgg3.2491.","DOI":"10.1002\/mgg3.2491"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_027","doi-asserted-by":"crossref","unstructured":"Chang, HY, Cheng, HY, Tsao, AN, Liu, C, Tsai, JW. Multiple functions of KBP in neural development underlie brain anomalies in goldberg-shprintzen syndrome. Front Mol Neurosci 2019;12:265. https:\/\/doi.org\/10.3389\/fnmol.2019.00265.","DOI":"10.3389\/fnmol.2019.00265"},{"key":"2026051215133581055_j_jpm-2025-0240_ref_028","doi-asserted-by":"crossref","unstructured":"Li, P, Shi, Y, Shuai, H, Cai, Y, Lu, W, Wang, G, et al.. Altered SLIT2\/ROBO1 signalling is linked to impaired placentation of missed and threatened\u00a0miscarriage in early pregnancy. Histopathology 2017;71:543\u201352. https:\/\/doi.org\/10.1111\/his.13250.","DOI":"10.1111\/his.13250"}],"container-title":["Journal of Perinatal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpm-2025-0240\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpm-2025-0240\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T15:26:34Z","timestamp":1778599594000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpm-2025-0240\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,3]]},"references-count":28,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,12,22]]},"published-print":{"date-parts":[[2026,3,26]]}},"alternative-id":["10.1515\/jpm-2025-0240"],"URL":"https:\/\/doi.org\/10.1515\/jpm-2025-0240","relation":{},"ISSN":["0300-5577","1619-3997"],"issn-type":[{"value":"0300-5577","type":"print"},{"value":"1619-3997","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,3]]}}}