{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:48:08Z","timestamp":1747151288838,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,12,31]],"date-time":"2020-12-31T00:00:00Z","timestamp":1609372800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To find out whether the diagnostic yield of prenatal array comparative genomic hybridization (aCGH) can be improved by targeting preselected high\u2010risk pregnancies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>All the in\u2010house arrays ordered by the Fetomaternal Medical Center from February 2016 until December 2018 were retrospectively analyzed. The indications for array analysis included fetal structural abnormalities, increased nuchal translucency \u22653.5\u00a0mm and a chromosomal abnormality in a parent or a sibling. Common aneuploidies were excluded.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Diagnostic yield was 15.1% in the entire patient cohort and as high as 20% in fetuses with multiple structural anomalies. The diagnostic yield was lowest in the group with isolated growth retardation. A total of 76 copy number variants (CNVs) were reported from a total of 65 samples, including 16 CNVs associated with a well\u2010described microdeletion\/microduplication syndrome, six autosomal trisomies in mosaic form, and three pathogenic single\u2010gene deletions with dominant inheritance and 12 CNVs known to be risk factors for eg developmental delay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The diagnostic yield of aCGH was higher than what has previously been reported in less defined patient cohorts. However, the number of CNVs with unclear correlation to the fetal ultrasound findings was still relatively high. The importance of adequate pre\u2010 and posttest counseling must therefore be emphasized.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5877","type":"journal-article","created":{"date-parts":[[2020,12,19]],"date-time":"2020-12-19T11:46:10Z","timestamp":1608378370000},"page":"422-433","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal array comparative genomic hybridization in a well\u2010defined cohort of high\u2010risk pregnancies. A 3\u2010year implementation results in a public tertiary academic referral hospital"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4451-2238","authenticated-orcid":false,"given":"Laura M.","family":"Tanner","sequence":"first","affiliation":[{"name":"HUSLAB Department of Clinical Genetics Helsinki University Hospital Department of Medical and Clinical Genetics, University of Helsinki  Helsinki Finland"},{"name":"Department of Obstetrics and Gynecology Fetomaternal Medical Center Helsinki University Hospital and University of Helsinki  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiina","family":"Alitalo","sequence":"additional","affiliation":[{"name":"HUSLAB Genetics Laboratory Helsinki University Hospital  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vedran","family":"Stefanovic","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Fetomaternal Medical Center Helsinki University Hospital and University of Helsinki  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,12,31]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_8_2_1","DOI":"10.1136\/jmg.2005.037648"},{"key":"e_1_2_8_3_1","first-page":"2145","article-title":"A cytogeneticist\u00b4s perspective on genomic microarrays","volume":"12","author":"Shaffer LG","year":"2004","journal-title":"Hum Reprod Update"},{"doi-asserted-by":"publisher","key":"e_1_2_8_4_1","DOI":"10.1093\/ije\/dyi021"},{"doi-asserted-by":"publisher","key":"e_1_2_8_5_1","DOI":"10.1002\/pd.405"},{"doi-asserted-by":"publisher","key":"e_1_2_8_6_1","DOI":"10.1002\/pd.5324"},{"doi-asserted-by":"publisher","key":"e_1_2_8_7_1","DOI":"10.1002\/pd.3945"},{"doi-asserted-by":"publisher","key":"e_1_2_8_8_1","DOI":"10.1056\/NEJMoa1203382"},{"doi-asserted-by":"publisher","key":"e_1_2_8_9_1","DOI":"10.1002\/pd.3861"},{"doi-asserted-by":"publisher","key":"e_1_2_8_10_1","DOI":"10.1186\/s12881-016-0345-8"},{"doi-asserted-by":"publisher","key":"e_1_2_8_11_1","DOI":"10.1002\/uog.12575"},{"doi-asserted-by":"publisher","key":"e_1_2_8_12_1","DOI":"10.1038\/gim.2012.113"},{"doi-asserted-by":"publisher","key":"e_1_2_8_13_1","DOI":"10.1016\/j.ajog.2017.11.559"},{"doi-asserted-by":"publisher","key":"e_1_2_8_14_1","DOI":"10.1007\/s10897-016-9960-y"},{"doi-asserted-by":"publisher","key":"e_1_2_8_15_1","DOI":"10.1002\/uog.17533"},{"doi-asserted-by":"publisher","key":"e_1_2_8_16_1","DOI":"10.1002\/uog.18928"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.5877","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.5877","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.5877","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T15:16:08Z","timestamp":1693581368000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.5877"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,31]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1002\/pd.5877"],"URL":"https:\/\/doi.org\/10.1002\/pd.5877","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2020,12,31]]},"assertion":[{"value":"2020-04-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}