{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T09:49:44Z","timestamp":1761817784403,"version":"build-2065373602"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,30]]},"DOI":"10.7759\/cureus.95728","type":"journal-article","created":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T09:47:38Z","timestamp":1761817658000},"source":"Crossref","is-referenced-by-count":0,"title":["Combined Preimplantation Genetic Testing for Aneuploidy (PGT-A) and Monogenic Disorders (PGT-M) to Prevent Autosomal Dominant Polycystic Kidney Disease After Kidney Transplant"],"prefix":"10.7759","author":[{"given":"Wael","family":"Elbanna","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osama","family":"Azmy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manal A","family":"Elhinnawi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfw240","article-title":"Prevalence of autosomal dominant polycystic kidney disease in the European Union","volume":"32","author":"Willey CJ","year":"2016","unstructured":"Willey CJ, Blais JD, Hall AK, Krasa HB, Makin AJ, Czerwiec FS. Prevalence of autosomal dominant polycystic kidney disease in the European Union. Nephrol Dial Transplant. 2016, 32:1356-63. 10.1093\/ndt\/gfw240","journal-title":"Nephrol Dial Transplant"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s44162-023-00017-8","article-title":"Many lessons still to learn about autosomal dominant polycystic kidney disease","volume":"2","author":"Orr S","year":"2023","unstructured":"Orr S, Sayer JA. Many lessons still to learn about autosomal dominant polycystic kidney disease. J Rare Dis (Berlin). 2023, 2:10.1007\/s44162-023-00017-8","journal-title":"J Rare Dis (Berlin)"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)32782-X","article-title":"Autosomal dominant polycystic kidney disease","volume":"393","author":"Gall EC","year":"2019","unstructured":"Gall EC, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019, 393:919-35. 10.1016\/S0140-6736(18)32782-X","journal-title":"Lancet"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.60.101707.125712","article-title":"Polycystic kidney disease","volume":"60","author":"Harris PC","year":"2009","unstructured":"Harris PC, Torres VE. Polycystic kidney disease. Annu Rev Med. 2009, 60:321-37. 10.1146\/annurev.med.60.101707.125712","journal-title":"Annu Rev Med"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201162","article-title":"Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2)","volume":"12","author":"Boucher C","year":"2004","unstructured":"Boucher C, Sandford R. Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). Eur J Hum Genet. 2004, 12:347-54. 10.1038\/sj.ejhg.5201162","journal-title":"Eur J Hum Genet"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2018.01.048","article-title":"Preimplantation genetic diagnosis counseling in autosomal dominant polycystic kidney disease","volume":"72","author":"Murphy EL","year":"2018","unstructured":"Murphy EL, Droher ML, DiMaio MS, Dahl NK. Preimplantation genetic diagnosis counseling in autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2018, 72:866-72. 10.1053\/j.ajkd.2018.01.048","journal-title":"Am J Kidney Dis"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2022.22847","article-title":"Exome sequencing of a clinical population for autosomal dominant polycystic kidney disease","volume":"328","author":"Chang AR","year":"2022","unstructured":"Chang AR, Moore BS, Luo JZ, et al.. Exome sequencing of a clinical population for autosomal dominant polycystic kidney disease. JAMA. 2022, 328:2412-21. 10.1001\/jama.2022.22847","journal-title":"JAMA"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1172\/JCI90129","article-title":"Isolated polycystic liver disease genes define effectors of polycystin-1 function","volume":"127","author":"Besse W","year":"2017","unstructured":"Besse W, Dong K, Choi J, et al.. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest. 2017, 127:1772-85. 10.1172\/JCI90129","journal-title":"J Clin Invest"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2019030298","article-title":"ALG9 mutation carriers develop kidney and liver cysts","volume":"30","author":"Besse W","year":"2019","unstructured":"Besse W, Chang AR, Luo JZ, et al.. ALG9 mutation carriers develop kidney and liver cysts. J Am Soc Nephrol. 2019, 30:2091-102. 10.1681\/ASN.2019030298","journal-title":"J Am Soc Nephrol"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2007.09.010","article-title":"Reproductive issues for adults with autosomal dominant polycystic kidney disease","volume":"51","author":"Vora N","year":"2008","unstructured":"Vora N, Perrone R, Bianchi DW. Reproductive issues for adults with autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008, 51:307-18. 10.1053\/j.ajkd.2007.09.010","journal-title":"Am J Kidney Dis"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.11360720","article-title":"Genetic testing is beneficial to the entire family","volume":"15","author":"Verma M","year":"2020","unstructured":"Verma M. Genetic testing is beneficial to the entire family. Clin J Am Soc Nephrol. 2020, 15:10.2215\/CJN.11360720","journal-title":"Clin J Am Soc Nephrol"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2015.07.037","article-title":"Autosomal dominant polycystic kidney disease: Core Curriculum 2016","volume":"67","author":"Chebib FT","year":"2016","unstructured":"Chebib FT, Torres VE. Autosomal dominant polycystic kidney disease: Core Curriculum 2016. Am J Kidney Dis. 2016, 67:792-810. 10.1053\/j.ajkd.2015.07.037","journal-title":"Am J Kidney Dis"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-021-04974-4","article-title":"The wind of change in the management of autosomal dominant polycystic kidney disease in childhood","volume":"37","author":"Gimpel C","year":"2022","unstructured":"Gimpel C, Bergmann C, Mekahli D. The wind of change in the management of autosomal dominant polycystic kidney disease in childhood. Pediatr Nephrol. 2022, 37:473-87. 10.1007\/s00467-021-04974-4","journal-title":"Pediatr Nephrol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.03550320","article-title":"Preimplantation genetic testing for monogenic kidney disease","volume":"15","author":"Snoek R","year":"2020","unstructured":"Snoek R, Stokman MF, Lichtenbelt KD, et al.. Preimplantation genetic testing for monogenic kidney disease. Clin J Am Soc Nephrol. 2020, 15:1279-86. 10.2215\/CJN.03550320","journal-title":"Clin J Am Soc Nephrol"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-021-02188-z","article-title":"A comprehensive PGT-M strategy for ADPKD patients with de novo PKD1 mutations using affected embryo or gametes as proband","volume":"38","author":"Wang Y","year":"2021","unstructured":"Wang Y, Zhai F, Guan S, et al.. A comprehensive PGT-M strategy for ADPKD patients with de novo PKD1 mutations using affected embryo or gametes as proband. J Assist Reprod Genet. 2021, 38:2425-34. 10.1007\/s10815-021-02188-z","journal-title":"J Assist Reprod Genet"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2024.06.031","article-title":"Prenatal and preimplantation genetic testing for monogenic kidney disorders","volume":"107","author":"Knoers NV","year":"2025","unstructured":"Knoers NV. Prenatal and preimplantation genetic testing for monogenic kidney disorders. Kidney Int. 2025, 107:255-61. 10.1016\/j.kint.2024.06.031","journal-title":"Kidney Int"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1093\/hropen\/hoaa020","article-title":"ESHRE PGT consortium and SIG embryology good practice recommendations for polar body and embryo biopsy for PGT","volume":"2020","author":"Kokkali G","year":"2020","unstructured":"Kokkali G, Coticchio G, Bronet F, et al.. ESHRE PGT consortium and SIG embryology good practice recommendations for polar body and embryo biopsy for PGT. Hum Reprod Open. 2020, 2020:10.1093\/hropen\/hoaa020","journal-title":"Hum Reprod Open"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dey346","article-title":"To test or not to test? A framework for counselling patients on preimplantation genetic testing for aneuploidy (PGT-A)","volume":"34","author":"Murphy LA","year":"2019","unstructured":"Murphy LA, Seidler EA, Vaughan DA, et al.. To test or not to test? A framework for counselling patients on preimplantation genetic testing for aneuploidy (PGT-A). Hum Reprod. 2019, 34:268-75. 10.1093\/humrep\/dey346","journal-title":"Hum Reprod"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2025.05.010","article-title":"Autosomal dominant polycystic kidney disease: Core Curriculum 2025","volume":"86","author":"Gordon CE","year":"2025","unstructured":"Gordon CE, Garimella PS, Perrone RD, Miskulin DC. Autosomal dominant polycystic kidney disease: Core Curriculum 2025. Am J Kidney Dis. 2025, 86:525-42. 10.1053\/j.ajkd.2025.05.010","journal-title":"Am J Kidney Dis"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1159\/000518253","article-title":"Preimplantation genetic testing for kidney disease-related genes: a laboratory's experience","volume":"52","author":"Chaperon JL","year":"2021","unstructured":"Chaperon JL, Wemmer NM, McKanna TA, et al.. Preimplantation genetic testing for kidney disease-related genes: a laboratory's experience. Am J Nephrol. 2021, 52:684-90. 10.1159\/000518253","journal-title":"Am J Nephrol"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/den488","article-title":"The causes of misdiagnosis and adverse outcomes in PGD","volume":"24","author":"Wilton L","year":"2009","unstructured":"Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper JC. The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod. 2009, 24:1221-8. 10.1093\/humrep\/den488","journal-title":"Hum Reprod"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2022.936578","article-title":"Combined preimplantation genetic testing for genetic kidney disease: genetic risk identification, assisted reproductive cycle, and pregnancy outcome analysis","volume":"9","author":"Xiao M","year":"2022","unstructured":"Xiao M, Shi H, Rao J, et al.. Combined preimplantation genetic testing for genetic kidney disease: genetic risk identification, assisted reproductive cycle, and pregnancy outcome analysis. Front Med (Lausanne). 2022, 9:10.3389\/fmed.2022.936578","journal-title":"Front Med (Lausanne)"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dez027","article-title":"Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease","volume":"34","author":"Berckmoes V","year":"2019","unstructured":"Berckmoes V, Verdyck P, De Becker P, et al.. Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease. Hum Reprod. 2019, 34:949-58. 10.1093\/humrep\/dez027","journal-title":"Hum Reprod"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.3390\/genes11060692","article-title":"Combined preimplantation genetic testing for autosomal dominant polycystic kidney disease: consequences for embryos available for transfer","volume":"11","author":"Pardo PM","year":"2020","unstructured":"Pardo PM, Mart\u00ednez-Conejero JA, Mart\u00edn J, Sim\u00f3n C, Cervero A. Combined preimplantation genetic testing for autosomal dominant polycystic kidney disease: consequences for embryos available for transfer. Genes (Basel). 2020, 11:10.3390\/genes11060692","journal-title":"Genes (Basel)"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sfae356","article-title":"Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis","volume":"18","author":"Liu X","year":"2025","unstructured":"Liu X, Zhang Q, Cao K, et al.. Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis. Clin Kidney J. 2025, 18:10.1093\/ckj\/sfae356","journal-title":"Clin Kidney J"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0582-8","article-title":"Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD","volume":"64","author":"Pandita S","year":"2019","unstructured":"Pandita S, Ramachandran V, Balakrishnan P, et al.. Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD. J Hum Genet. 2019, 64:409-19. 10.1038\/s10038-019-0582-8","journal-title":"J Hum Genet"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2020.111718","article-title":"Mutational screening of PKD1 and PKD2 in Indian ADPKD patients identified 95 genetic variants","volume":"821","author":"Raj S","year":"2020","unstructured":"Raj S, Singh RG, Das P. Mutational screening of PKD1 and PKD2 in Indian ADPKD patients identified 95 genetic variants. Mutat Res. 2020, 821:10.1016\/j.mrfmmm.2020.111718","journal-title":"Mutat Res"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0289096","article-title":"Surging trends of infertility and its behavioural determinants in India","volume":"18","author":"Kundu S","year":"2023","unstructured":"Kundu S, Ali B, Dhillon P. Surging trends of infertility and its behavioural determinants in India. PLoS One. 2023, 18:10.1371\/journal.pone.0289096","journal-title":"PLoS One"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.46234\/ccdcw2024.155","article-title":"Preplanned studies: trends and distribution of infertility - Asia Pacific Region, 1990-2021","volume":"6","author":"Luo Y","year":"2024","unstructured":"Luo Y, Hong C, Fan H, Huang Y, Zhong P, Zhao Y, Zheng X. Preplanned studies: trends and distribution of infertility - Asia Pacific Region, 1990-2021. China CDC Wkly. 2024, 6:689-94. 10.46234\/ccdcw2024.155","journal-title":"China CDC Wkly"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/401521-combined-preimplantation-genetic-testing-for-aneuploidy-pgt-a-and-monogenic-disorders-pgt-m-to-prevent-autosomal-dominant-polycystic-kidney-disease-after-kidney-transplant","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T09:47:38Z","timestamp":1761817658000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/401521-combined-preimplantation-genetic-testing-for-aneuploidy-pgt-a-and-monogenic-disorders-pgt-m-to-prevent-autosomal-dominant-polycystic-kidney-disease-after-kidney-transplant"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,30]]},"references-count":29,"URL":"https:\/\/doi.org\/10.7759\/cureus.95728","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,10,30]]}}}