{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T01:28:01Z","timestamp":1771464481699,"version":"3.50.1"},"reference-count":50,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,7,4]],"date-time":"2012-07-04T00:00:00Z","timestamp":1341360000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Our knowledge about miscarriages mainly concerns pregnancies of at least 8\u2009weeks\u2019 gestation. Information about the morphology and the genetic determinants of early aborted embryos remains limited. In addition, it is known that aneuploidies account for less than half of recurrent spontaneous abortions. We hypothesized that (recurrent) early pregnancy losses might have other genetic causes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Products of conception from 51 couples with at least one previous miscarriage were collected by hystero\u2010embryoscopy. The extracted DNA was analyzed by low resolution array comparative genomic hybridization and high resolution single nucleotide polymorphism arrays to detect aneuploidies, polyploidies, submicroscopic copy number variants or copy neutral loss of heterozygosity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Chromosomal aberrations were identified in 65.6% (21\/32) of miscarriages and in 89% (8\/9) of anembryonic cases. Interestingly, 4\/11 chromosomally euploid embryos contained regions of loss of heterozygosity &gt;5\u2009Mb, suggesting the miscarriages might be due to an underlying lethal recessive disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Hystero\u2010embryoscopic biopsy followed by array comparative genomic hybridization is a valuable diagnostic tool for early and recurrent miscarriages. Genome\u2010wide high resolution single nucleotide polymorphism microarray analysis of a larger group of miscarriages could provide more insight into the genetic causes of recurrent spontaneous abortion. \u00a9 2012 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.3936","type":"journal-article","created":{"date-parts":[[2012,7,5]],"date-time":"2012-07-05T07:49:42Z","timestamp":1341474582000},"page":"933-942","source":"Crossref","is-referenced-by-count":39,"title":["Cytogenetic and morphological analysis of early products of conception following hystero\u2010embryoscopy from couples with recurrent pregnancy loss"],"prefix":"10.1002","volume":"32","author":[{"given":"Caroline","family":"Robberecht","sequence":"first","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Pexsters","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology University Hospitals, KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Deprest","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology University Hospitals, KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Pierre","family":"Fryns","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"D'Hooghe","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology University Hospitals, KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joris Robert","family":"Vermeesch","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"},{"name":"Center for Human Genetics  Herestraat 49 3000 Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,7,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198807283190401"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(16)58144-8"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/beog.2000.0124"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1980.tb00955.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/302878"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/421250"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1016666301481"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10476"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deg309"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2004.04.057"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(00)01801-X"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/17.2.446"},{"key":"e_1_2_5_14_1","first-page":"465","article-title":"Does the Karyotype of A Spontaneous\u2010Abortion Predict the Karyotype of A Subsequent Abortion \u2010 Evidence from 273 Women with 2 Karyotyped Spontaneous\u2010Abortions","volume":"41","author":"Warburton D","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.AOG.0000137832.86727.e2"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/491719"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/507471"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039453"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1230"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-89"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181abc92a"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31421"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01131.x"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1697"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1696"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1098918"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/431652"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/del150"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.8884"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10397-010-0565-4"},{"key":"e_1_2_5_31_1","first-page":"141","article-title":"Introduction to the study of embryonic stages in man","volume":"65","author":"O'Rahilly R","year":"1981","journal-title":"Bull Assoc Anat (Nancy)"},{"key":"e_1_2_5_32_1","first-page":"1","article-title":"Spontaneous\u2010Abortion \u2010 A Study of 1,961 Women and Their Conceptuses","volume":"102","author":"Poland BJ","year":"1981","journal-title":"Acta Obstet Gynecol Scand Suppl"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1369\/jhc.4A6436.2005"},{"key":"e_1_2_5_34_1","unstructured":"Database of Genomic Variants. URLhttp:\/\/projects.tcag.ca\/variation\/[accessed on 10 October 2011]."},{"key":"e_1_2_5_35_1","unstructured":"JirtleRL.Geneimprint. URLwww.geneimprint.com[accessed on 10 Octobert 2011]."},{"key":"e_1_2_5_36_1","unstructured":"MorisonIM PatonCJ CleverleySD.Catalogue of Imprinted Genes. URLwww.otago.ac.nz\/IGC[accessed on 10 October 2011]."},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.08.007"},{"key":"e_1_2_5_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.7681"},{"key":"e_1_2_5_39_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1996.08050314.x"},{"key":"e_1_2_5_40_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/12.4.823"},{"key":"e_1_2_5_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(99)00495-1"},{"key":"e_1_2_5_42_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-082410-101404"},{"key":"e_1_2_5_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.08.006"},{"key":"e_1_2_5_44_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028936"},{"key":"e_1_2_5_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0787-2"},{"key":"e_1_2_5_46_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.044370"},{"key":"e_1_2_5_47_1","first-page":"89","article-title":"Genomic changes detected by array CGH in human embryos with developmental defects","volume":"17","author":"Rajcan\u2010Separovic E","year":"2009","journal-title":"Chromosome Res"},{"key":"e_1_2_5_48_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deq202"},{"key":"e_1_2_5_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.591"},{"key":"e_1_2_5_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(02)01117-6"},{"key":"e_1_2_5_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30960"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.3936","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.3936","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.3936","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T12:54:06Z","timestamp":1695473646000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.3936"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,4]]},"references-count":50,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["10.1002\/pd.3936"],"URL":"https:\/\/doi.org\/10.1002\/pd.3936","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,4]]}}}