{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:17:20Z","timestamp":1787066240911,"version":"build-2736575974"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T00:00:00Z","timestamp":1643155200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T00:00:00Z","timestamp":1643155200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2016\/23\/N\/NZ2\/02364"],"award-info":[{"award-number":["2016\/23\/N\/NZ2\/02364"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Assist Reprod Genet"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Spontaneous abortion occurs in 8\u201320% of recognized pregnancies and usually takes place in the first trimester (7\u201311\u00a0weeks). There are many causes of pregnancy loss, but the most important (about 75%) is the presence of chromosomal aberrations. We present the results of oligonucleotide array application in a cohort of 62 miscarriage cases. The inclusion criteria for the study were the loss after 8th week of pregnancy and the appearance of recurrent miscarriages. DNA was extracted from trophoblast or fetal skin fibroblasts. In the 62 tested materials from recurrent miscarriages, the detection rate was 56.5% (35\/62). The most commonly found were aneuploidies (65%) (chromosomal trisomy 14, 16, 18, 21, and 22), Turner syndrome, and triploidy (17.1%). Other chromosomal abnormalities included pathogenic and likely pathogenic structural aberrations: 1) pathogenic: deletion 7p22.3p12.3 and duplication 9p24.3p13.2 inherited from the normal father, deletion 3q13.31q22.2 and deletion 3q22.3q23 of unknown inheritance and duplication of 17p12 inherited from father with foot malformation; 2) likely pathogenic variants: deletion 17p13.1 inherited from normal mother, deletion 5q14.3 of unknown inheritance and de novo deletion 1q21.1q21.2. Among these aberrations, six CNVs\u00a0(copy number variants) were responsible for the miscarriage: deletion 7p22.3p12.3 and duplication 9p24.3p13.2, deletion 3q13.31q22.2 and deletion 3q22.3q23, and deletion 17p13.1 and deletion 1q21.1q21.2. Other two findings were classified as incidental findings (deletion 5q14.3 and 17p12 duplication). Our research shows that 17% of the aberrations (6\/35 abnormal results) that cannot be identified by the\u00a0routine kariotype analysis are structural aberrations containing genes important for fetal development, the mutations of which may cause spontaneous abortion.<\/jats:p>","DOI":"10.1007\/s10815-022-02400-8","type":"journal-article","created":{"date-parts":[[2022,1,25]],"date-time":"2022-01-25T22:02:18Z","timestamp":1643148138000},"page":"357-367","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss"],"prefix":"10.1007","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9867-063X","authenticated-orcid":false,"given":"Katarzyna","family":"Kowalczyk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Smyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Bartnik-G\u0142aska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izabela","family":"Plaskota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Wi\u015bniowiecka-Kowalnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Bernaciak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Chojnacka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Paczkowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Niemiec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Dutkiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Kozar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00f3\u017ca","family":"Magdziak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wojciech","family":"Krawczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grzegorz","family":"Pietras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u017cbieta","family":"Michalak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Klepacka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Obersztyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerzy","family":"Bal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata Anna","family":"Nowakowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,26]]},"reference":[{"key":"2400_CR1","doi-asserted-by":"crossref","unstructured":"Berghella M 2007 Recurrent pregnancy loss: obstetric evidence base guidelines (red. Berghella V). Informa Healthcare, London, pp: 109\u2013115.","DOI":"10.3109\/9780203931639.014"},{"issue":"7","key":"2400_CR2","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1186\/1755-8166-7-43","volume":"24","author":"S Bug","year":"2014","unstructured":"Bug S, Solfrank B, Schmitz F, Pricelius J, Stecher M, Craig A, Botcherby M, Nevinny-Stickel-Hinzepeter C. Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy. Mol Cytogenet. 2014;24(7):43. https:\/\/doi.org\/10.1186\/1755-8166-7-43.","journal-title":"Mol Cytogenet"},{"issue":"2","key":"2400_CR3","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1016\/j.fertnstert.2005.07.1305","volume":"85","author":"H Carp","year":"2006","unstructured":"Carp H, Guetta E, Dorf H, Soriano D, Barkai G, Schiff E. Embryonic karyotype in recurrent miscarriage with parental karyotypic aberrations. Fertil Steril. 2006;85(2):446\u201350. https:\/\/doi.org\/10.1016\/j.fertnstert.2005.07.1305.","journal-title":"Fertil Steril"},{"key":"2400_CR4","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1146\/annurev.ge.05.120171.000433","volume":"5","author":"DH Carr","year":"1971","unstructured":"Carr DH. Genetic basis of abortion. Annu Rev Genet. 1971;5:65\u201380. https:\/\/doi.org\/10.1146\/annurev.ge.05.120171.000433.","journal-title":"Annu Rev Genet"},{"key":"2400_CR5","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1016\/j.rbmo.2015.07.001","volume":"31","author":"A Caseiro","year":"2015","unstructured":"Caseiro A, Regalo A, Pereira E, Esteves T, Fernandes F, Carvalho J. Implication of sperm chromosomal abnormalities in recurrent abortion and multiple implantation failure. Reprod Biomed Online. 2015;31:481\u20135. https:\/\/doi.org\/10.1016\/j.rbmo.2015.07.001.","journal-title":"Reprod Biomed Online"},{"key":"2400_CR6","doi-asserted-by":"publisher","unstructured":"Colley E, Hamilton S, Smith P, Morgan NV, Coomarasamy A, Allen S (2019) Potential genetic causes of miscarriage in euploid pregnancies: a systematic review. Hum Reprod Update 1;25(4):452\u2013472. https:\/\/doi.org\/10.1093\/humupd\/dmz015","DOI":"10.1093\/humupd\/dmz015"},{"issue":"4","key":"2400_CR7","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1016\/s1472-6483(10)60132-0","volume":"18","author":"BE De la Fuente-Cort\u00e9s","year":"2009","unstructured":"De la Fuente-Cort\u00e9s BE, Cerda-Flores RM, D\u00e1vila-Rodr\u00edguez MI, Garc\u00eda-Vielma C, De la Rosa Alvarado RM, Cort\u00e9s-Guti\u00e9rrez EI. Chromosomal abnormalities and polymorphic variants in couples with repeated miscarriage in Mexico. Reprod Biomed Online. 2009;18(4):543\u20138. https:\/\/doi.org\/10.1016\/s1472-6483(10)60132-0.","journal-title":"Reprod Biomed Online"},{"issue":"1","key":"2400_CR8","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1111\/1471-0528.12382","volume":"121","author":"RK Dhillon","year":"2014","unstructured":"Dhillon RK, Hillman SC, Morris RK, McMullan D, Williams D, Coomarasamy A, Kilby MD. 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(1):11\u201321. https:\/\/doi.org\/10.1111\/1471-0528.12382.","journal-title":"BJOG"},{"issue":"11\u201312","key":"2400_CR9","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1016\/j.placenta.2007.07.005","volume":"28","author":"J Dackor","year":"2007","unstructured":"Dackor J, Strunk KE, Wehmeyer MM, Threadgill DW. Altered trophoblast proliferation is insufficient to account for placental dysfunction in Egfr null embryos. Placenta. 2007;28(11\u201312):1211\u20138. https:\/\/doi.org\/10.1016\/j.placenta.2007.07.005.","journal-title":"Placenta"},{"issue":"2","key":"2400_CR10","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1016\/j.ejogrb.2009.07.023","volume":"147","author":"S D\u00f3ria","year":"2009","unstructured":"D\u00f3ria S, Carvalho F, Ramalho C, Lima V, Francisco T, Machado AP, Brand\u00e3o O, Sousa M, Matias A, Barros A. An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths. Eur J Obstet Gynecol Reprod. 2009;147(2):144\u201350. https:\/\/doi.org\/10.1016\/j.ejogrb.2009.07.023.","journal-title":"Eur J Obstet Gynecol Reprod"},{"issue":"9","key":"2400_CR11","doi-asserted-by":"publisher","first-page":"331","DOI":"10.2147\/IJWH.S100817","volume":"17","author":"H El Hachem","year":"2017","unstructured":"El Hachem H, Crepaux V, May-Panloup P, Descamps P, Legendre G, Bouet PE. Recurrent pregnancy loss: current perspectives. Int J Womens Health. 2017;17(9):331\u201345. https:\/\/doi.org\/10.2147\/IJWH.S100817.","journal-title":"Int J Womens Health"},{"issue":"4","key":"2400_CR12","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1093\/humupd\/dmn009","volume":"14","author":"ESHRE Capri Workshop Group","year":"2008","unstructured":"ESHRE Capri Workshop Group. Genetic aspects of female reproduction. Hum Reprod Update. 2008;14(4):293\u2013307. https:\/\/doi.org\/10.1093\/humupd\/dmn009.","journal-title":"Hum Reprod Update"},{"key":"2400_CR13","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1159\/000450971","volume":"7","author":"B Gamba","year":"2016","unstructured":"Gamba B, Zechi-Ceide RM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Krepischi Santos ACV, Ribeiro-Bicudo L, Richieri-Costa A. Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability. Mol Syndromol. 2016;7:344\u20138. https:\/\/doi.org\/10.1159\/000450971.","journal-title":"Mol Syndromol"},{"key":"2400_CR14","doi-asserted-by":"publisher","unstructured":"Gao J, Liu C, Yao F, Hao N, Zhou J, Zhou Q, Zhang L, Liu X, Bian X, Liu J (2012) Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion. Mol Cytogenet 16;5(1):33. https:\/\/doi.org\/10.1186\/1755-8166-5-33","DOI":"10.1186\/1755-8166-5-33"},{"issue":"4","key":"2400_CR15","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1093\/humrep\/deh172","volume":"19","author":"M Goddijn","year":"2004","unstructured":"Goddijn M, Joosten JH, Knegt AC, van der Veen F, Franssen MT, Bonsel GJ, Leschot NJ. Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage. Hum Reprod. 2004;19(4):1013\u20137. https:\/\/doi.org\/10.1093\/humrep\/deh172.","journal-title":"Hum Reprod"},{"issue":"5","key":"2400_CR16","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1053\/beog.2000.0124","volume":"14","author":"M Goddijn","year":"2000","unstructured":"Goddijn M, Leschot NJ. Genetic aspects of miscarriage. Baillieres Best Pract Res Clin Obstet Gynaecol. 2000;14(5):855\u201365. https:\/\/doi.org\/10.1053\/beog.2000.0124.","journal-title":"Baillieres Best Pract Res Clin Obstet Gynaecol"},{"issue":"1","key":"2400_CR17","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1002\/uog.14653","volume":"45","author":"SC Hillman","year":"2015","unstructured":"Hillman SC, Willams D, Carss KJ, McMullan DJ, Hurles ME, Kilby MD. Prenatal exome sequencing for fetuses with structural abnormalities: the next step. Ultrasound Obstet Gynecol. 2015;45(1):4\u20139. https:\/\/doi.org\/10.1002\/uog.14653.","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2400_CR18","doi-asserted-by":"publisher","unstructured":"Kablar B, Krastel K, Tajbakhsh S, Rudnicki MA (2003) Myf5 and MyoD activation define independent myogenic compartments during embryonic development. Dev Biol. 15;258(2):307\u201318. https:\/\/doi.org\/10.1016\/s0012-1606(03)00139-8","DOI":"10.1016\/s0012-1606(03)00139-8"},{"issue":"2","key":"2400_CR19","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.repbio.2017.03.003","volume":"17","author":"S Karim","year":"2017","unstructured":"Karim S, Jamal HS, Rouzi A, Ardawi MSM, Schulten HJ, Mirza Z, Alansari NA, Al-Quaiti MM, Abusamra H, Naseer MI, Turki R, Chaudhary AG, Gari M, Abuzenadah AM, Al-Qhatani MH. Genomic answers for recurrent spontaneous abortion in Saudi Arabia: an array comparative genomic hybridization approach. Reprod Biol. 2017;17(2):133\u201343. https:\/\/doi.org\/10.1016\/j.repbio.2017.03.003.","journal-title":"Reprod Biol"},{"key":"2400_CR20","unstructured":"Lawce HJ, Brown MG: Cytogenetics. An overview. W: The AGT Cytogenetics Laboratory Manual (red. Barch MJ, Knutsen T, Spurbeck JL). Lippincott- Raven, Philadelphia \u2013 New York 1997: 20\u201323."},{"issue":"2\u20134","key":"2400_CR21","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1159\/000324120","volume":"133","author":"I Lebedev","year":"2011","unstructured":"Lebedev I. Mosaic aneuploidy in early fetal losses. Cytogenet Genome Res. 2011;133(2\u20134):169\u201383. https:\/\/doi.org\/10.1159\/000324120.","journal-title":"Cytogenet Genome Res"},{"issue":"11","key":"2400_CR22","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1111\/j.0001-6349.2005.00882.x","volume":"84","author":"E Ljunger","year":"2015","unstructured":"Ljunger E, Cnattingius S, Lundin C, Anner\u00e9n G. Chromosomal anomalies in first-trimester miscarriages. Acta Obstet Gynecol Scand. 2015;84(11):1103\u20137. https:\/\/doi.org\/10.1111\/j.0001-6349.2005.00882.x.","journal-title":"Acta Obstet Gynecol Scand"},{"issue":"7","key":"2400_CR23","doi-asserted-by":"publisher","first-page":"632","DOI":"10.1080\/09513590.2020.1751107","volume":"36","author":"J Lou","year":"2010","unstructured":"Lou J, Zou Y, Luo Y, Zhang ZY, Liu FY, Tan J, Zeng X, Wan L, Huang OP. Novel MYH8 mutations in 152 Han Chinese samples with ovarian endometriosis. Gynecol Endocrinol. 2010;36(7):632\u20135. https:\/\/doi.org\/10.1080\/09513590.2020.1751107.","journal-title":"Gynecol Endocrinol"},{"issue":"12","key":"2400_CR24","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.980","volume":"7","author":"L Lovre\u010di\u0107","year":"2019","unstructured":"Lovre\u010di\u0107 L, Pereza N, Jakli\u010d H, Ostoji\u0107 S, Peterlin B. Combination of QF-PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage. Mol Genet Genomic Med. 2019;7(12): e980. https:\/\/doi.org\/10.1002\/mgg3.980.","journal-title":"Mol Genet Genomic Med"},{"key":"2400_CR25","doi-asserted-by":"publisher","first-page":"1951","DOI":"10.1016\/j.bbadis.2012.07.001","volume":"12","author":"MM van den Berg","year":"1822","unstructured":"van den Berg MM, van Maarle MC, van Wely M. Goddijn M (2012) Genetics of early miscarriage. Biochim Biophys Acta. 1822;12:1951\u20139. https:\/\/doi.org\/10.1016\/j.bbadis.2012.07.001.","journal-title":"Biochim Biophys Acta"},{"issue":"5","key":"2400_CR26","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","volume":"86","author":"DT Miller","year":"2010","unstructured":"Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749\u201364. https:\/\/doi.org\/10.1016\/j.ajhg.2010.04.006.","journal-title":"Am J Hum Genet"},{"key":"2400_CR27","doi-asserted-by":"publisher","unstructured":"Pellestor F, Anahory T, Hamamah S (2005) The chromosomal analysis of human oocytes. An overview of established procedures. Hum Reprod Update 11(1):15\u201332. https:\/\/doi.org\/10.1093\/humupd\/dmh051","DOI":"10.1093\/humupd\/dmh051"},{"key":"2400_CR28","unstructured":"Pertile MD, Oertel R, Hills L, Boys A, Norris F, Burns I, Bruno DL, Slater HR (2012) Whole genome microarray in clinical practice: investigation of 2,024miscarriage, stillbirth and fetal malformation referrals. Eur J Hum Genet 20 Suppl. 1: P05.34."},{"issue":"8","key":"2400_CR29","doi-asserted-by":"publisher","first-page":"1724","DOI":"10.1093\/humrep\/deg309","volume":"18","author":"T Philipp","year":"2003","unstructured":"Philipp T, Philipp K, Reiner A, Beer F, Kalousek DK. Embryoscopic and cytogenetic analysis of 233 missed abortions: factors involved in the pathogenesis of developmental defects of early failed pregnancies. Hum Reprod A. 2003;18(8):1724\u201332. https:\/\/doi.org\/10.1093\/humrep\/deg309.","journal-title":"Hum Reprod A"},{"issue":"2","key":"2400_CR30","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.04.001","volume":"63","author":"E Rajcan-Separovic","year":"2020","unstructured":"Rajcan-Separovic E. Next generation sequencing in recurrent pregnancy loss-approaches and outcomes. Eur J Med Genet. 2020;63(2): 103644. https:\/\/doi.org\/10.1016\/j.ejmg.2019.04.001.","journal-title":"Eur J Med Genet"},{"issue":"11","key":"2400_CR31","doi-asserted-by":"publisher","first-page":"2913","DOI":"10.1093\/humrep\/deq202","volume":"25","author":"E Rajcan-Separovic","year":"2010","unstructured":"Rajcan-Separovic E, Diego-Alvarez D, Robinson WP, Tyson C, Qiao Y, Harvard C, Fawcett C, Kalousek D, Philipp T, Somerville MJ, Stephenson MD. Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss. Hum Reprod. 2010;25(11):2913\u201322. https:\/\/doi.org\/10.1093\/humrep\/deq202.","journal-title":"Hum Reprod"},{"issue":"6","key":"2400_CR32","doi-asserted-by":"publisher","first-page":"1168","DOI":"10.1086\/421250","volume":"74","author":"AJ Schaeffer","year":"2004","unstructured":"Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Lese Martin C. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet. 2004;74(6):1168\u201374. https:\/\/doi.org\/10.1086\/421250.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"2400_CR33","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1038\/gim.2017.111","volume":"20","author":"HE Shamseldin","year":"2018","unstructured":"Shamseldin HE, Kurdi W, Almusafri F, Alnemer M, Alkaff A, Babay Z, Alhashem A, Tulbah M, Alsahan N, Khan R, Sallout B, Al Mardawi E, Seidahmed MZ, Meriki N, Alsaber Y, Qari A, Khalifa O, Eyaid W, Rahbeeni Z, Kurdi A, Hashem M, Alshidi T, Al-Obeid E, Abdulwahab F, Ibrahim N, Ewida N, El-Akouri K, Al Mulla M, Ben-Omran T, Pergande M, Cirak S, Al Tala S, Shaheen R, Faqeih E, Alkuraya FS. Molecular autopsy in maternal-fetal medicine. Genet Med. 2018;20(4):420\u20137. https:\/\/doi.org\/10.1038\/gim.2017.111.","journal-title":"Genet Med"},{"issue":"9","key":"2400_CR34","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/s13039-015-0210-z","volume":"26","author":"J Shen","year":"2016","unstructured":"Shen J, Wu W, Gao C, Ochin H, Qu D, Xie J, Gao L, Zhou Y, Cui Y, Liu J. Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology. Mol Cytogenet. 2016;26(9):7. https:\/\/doi.org\/10.1186\/s13039-015-0210-z.","journal-title":"Mol Cytogenet"},{"key":"2400_CR35","doi-asserted-by":"publisher","unstructured":"Shimokawa O, Harada N, Miyake N, Satoh K, Mizuguchi T, Niikawa N, Matsumoto N (2006) Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes. Am J Med Genet A 15;140(18):1931\u20135https:\/\/doi.org\/10.1002\/ajmg.a.314211935","DOI":"10.1002\/ajmg.a.314211935"},{"issue":"1","key":"2400_CR36","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41431-018-0244-x","volume":"27","author":"M Silva","year":"2019","unstructured":"Silva M, de Leeuw N, Mann K, Schuring-Blom H, Morgan S, Giardino D, Rack K, Hastings R. European guidelines for constitutional cytogenomic analysis. Eur J Hum Genet. 2019;27(1):1\u201316. https:\/\/doi.org\/10.1038\/s41431-018-0244-x.","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"2400_CR37","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1097\/GRF.0b013e31802f11f6","volume":"50","author":"JL Simpson","year":"2007","unstructured":"Simpson JL. Causes of fetal wastage. Clinical Obstetrics And Gynecology. 2007;50(1):10\u201330. https:\/\/doi.org\/10.1097\/GRF.0b013e31802f11f6.","journal-title":"Clinical Obstetrics And Gynecology"},{"key":"2400_CR38","doi-asserted-by":"publisher","unstructured":"South ST, Lee C, Lamb AN, Higgins AW, Kearney HM (2013) Working group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med 15(11):901\u20139. https:\/\/doi.org\/10.1038\/gim.2013.129","DOI":"10.1038\/gim.2013.129"},{"issue":"2","key":"2400_CR39","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1093\/humrep\/17.2.446","volume":"17","author":"MD Stephenson","year":"2002","unstructured":"Stephenson MD, Awartani KA, Robinson WP. Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Hum Reprod. 2002;17(2):446\u201351. https:\/\/doi.org\/10.1093\/humrep\/17.2.446.","journal-title":"Hum Reprod"},{"issue":"4","key":"2400_CR40","doi-asserted-by":"publisher","first-page":"1076","DOI":"10.1093\/humrep\/dei417","volume":"21","author":"MD Stephenson","year":"2006","unstructured":"Stephenson MD, Sierra S. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Hum Reprod. 2006;21(4):1076\u201382. https:\/\/doi.org\/10.1093\/humrep\/dei417.","journal-title":"Hum Reprod"},{"issue":"3","key":"2400_CR41","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1007\/s13353-013-0157-x","volume":"54","author":"CD Viaggi","year":"2013","unstructured":"Viaggi CD, Cavani S, Malacarne M, Floriddia F, Zerega G, Baldo C, Mogni M, Castagnetta M, Piombo G, Coviello DA, Camandona F, Lijoi D, Insegno W, Traversa M, Pierluigi M. First-trimester euploid miscarriages analysed by array-CGH. J Appl Genet. 2013;54(3):353\u20139. https:\/\/doi.org\/10.1007\/s13353-013-0157-x.","journal-title":"J Appl Genet"},{"key":"2400_CR42","doi-asserted-by":"publisher","unstructured":"Zhou Q, Wu SY, Amato K, DiAdamo A, Li P (2016) Spectrum of cytogenomic abnormalities revealed by array comparative genomic hybridization on products of conception culture failure and normal karyotype samples. J Genet Genomics 20;43(3):121\u201331. https:\/\/doi.org\/10.1016\/j.jgg.2016.02.002","DOI":"10.1016\/j.jgg.2016.02.002"}],"container-title":["Journal of Assisted Reproduction and Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-022-02400-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10815-022-02400-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-022-02400-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,25]],"date-time":"2022-03-25T23:15:15Z","timestamp":1648250115000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10815-022-02400-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,26]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["2400"],"URL":"https:\/\/doi.org\/10.1007\/s10815-022-02400-8","relation":{},"ISSN":["1058-0468","1573-7330"],"issn-type":[{"value":"1058-0468","type":"print"},{"value":"1573-7330","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,26]]},"assertion":[{"value":"3 November 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 January 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 January 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the Bioethics Committee at the Institute of Mother and Child in Warsaw (opinion number: 35\/2017) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}