{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T10:51:31Z","timestamp":1792234291744,"version":"4.4.0"},"reference-count":36,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,5,20]],"date-time":"2022-05-20T00:00:00Z","timestamp":1653004800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["418081722"],"award-info":[{"award-number":["418081722"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["433158657"],"award-info":[{"award-number":["433158657"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To examine the diagnostic yield of trio exome sequencing in fetuses with multiple structural defects with no pathogenic findings in cytogenetic and microarray analyses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We recruited 51 fetuses with two or more defects, non\u2010immune fetal hydrops or fetal akinesia deformation syndrome|or fetal akinesia deformation sequence (FADS). Trio exome sequencing was performed on DNA from chorionic villi samples and parental blood. Detection of genomic variation and prioritization of clinically relevant variants was performed according to in\u2010house standard operating procedures.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Median maternal and gestational age was 32.0\u00a0years and 21.0\u00a0weeks, respectively. Forty\u2010three (84.3%) fetuses had two or more affected organ systems. The remaining fetuses had isolated fetal hydrops or FADS. In total, the exome analysis established the genetic cause for the clinical abnormalities in 22 (43.1%, 95% CI 29.4%\u201357.8%) pregnancies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In fetuses with multiple defects, hydrops or FADS and normal standard genetic results, trio exome sequencing has the potential to identify genetic anomalies in more than 40% of cases.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6170","type":"journal-article","created":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T09:24:52Z","timestamp":1652693092000},"page":"901-910","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A single center experience of prenatal parent\u2010fetus trio exome sequencing for pregnancies with congenital anomalies"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5616-5010","authenticated-orcid":false,"given":"Andreas","family":"Dufke","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"Centre for Rare Diseases University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Hoopmann","sequence":"additional","affiliation":[{"name":"Department for Women's Health University Hospital of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Waldm\u00fcller","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia Carmen","family":"Prodan","sequence":"additional","affiliation":[{"name":"Department for Women's Health University Hospital of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Beck\u2010W\u00f6dl","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Grasshoff","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tilman","family":"Heinrich","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelika","family":"Riess","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Kehrer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth J.","family":"Falb","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Liebmann","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiana","family":"Roggia","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Stampfer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malou","family":"Schadeck","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelie J.","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Grimmel","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"St\u00f6be","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darja","family":"Gauck","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Buchert\u2010Lo","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Baumann","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Sch\u00e4ferhoff","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Bertrand","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benita","family":"Menden","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Sturm","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leon","family":"Sch\u00fctz","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Riess","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"Centre for Rare Diseases University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Ossowski","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"Centre for Rare Diseases University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl Oliver","family":"Kagan","sequence":"additional","affiliation":[{"name":"Department for Women's Health University Hospital of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,5,20]]},"reference":[{"issue":"11","key":"e_1_2_8_2_1","first-page":"1","article-title":"Genome\u2010wide sequencing for unexplained developmental disabilities or multiple congenital anomalies: a health technology assessment","volume":"20","author":"Ontario H","year":"2020","journal-title":"Ont Health Technol Assess Ser"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010017\u20101860\u20101"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4648"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5102"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ogx.0000550387.91867.88"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu038"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.30"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100499\u20109"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4675"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.18915"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfx031"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010018\u20100409\u2010z"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ogx.0000569244.48139.92"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073\u2010018\u20100582\u2010x"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.7717\/peerj.1955"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(18)32042\u20107"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13185"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u20100750\u20104"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.33"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4674"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.31"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa2023643"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12030376"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104288"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6081"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.14053"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471\u20100528.16546"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010020\u201000869\u20108"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6115"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5532"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.190"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010021\u201001171\u20104"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102021\u2010108064"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073\u2010016\u20100386\u20109"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6170","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6170","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6170","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T07:04:05Z","timestamp":1692947045000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6170"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,20]]},"references-count":36,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1002\/pd.6170"],"URL":"https:\/\/doi.org\/10.1002\/pd.6170","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,20]]},"assertion":[{"value":"2022-01-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}