{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:24:28Z","timestamp":1787502268254,"version":"build-2736575974"},"reference-count":50,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,8,20]],"date-time":"2022-08-20T00:00:00Z","timestamp":1660953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To report uptake of genetic counseling (GC) and prenatal genetic testing after the finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings of these pregnancies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A retrospective cohort study (2017\u20132019) of atypical fetal genitalia in a large expert center for disorders\/differences of sex development. We describe counseling aspects, invasive prenatal testing, genetic and clinical outcome of fetuses apparently without [group 1,\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a022 (38%)] or with [group 2,\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a036 (62%)] additional anomalies on US.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In group 1, 86% of parents opted for GC versus 72% in group 2, and respectively 58% and 15% of these parents refrained from invasive testing. Atypical genitalia were postnatally confirmed in 91% (group 1) and 64% (group 2), indicating a high rate of false positive US diagnosis of ambiguous genitalia. Four genetic diagnoses were established in group 1 (18%) and 10 in group 2 (28%). The total genetic diagnostic yield was 24%. No terminations of pregnancy occurred in group 1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>For optimal care, referral for an expert fetal US scan, GC and invasive diagnostics including broad testing should be offered after prenatal detection of isolated atypical genitalia.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6205","type":"journal-article","created":{"date-parts":[[2022,7,9]],"date-time":"2022-07-09T03:11:50Z","timestamp":1657336310000},"page":"162-182","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2002-9145","authenticated-orcid":false,"given":"Yolande","family":"van Bever","sequence":"first","affiliation":[{"name":"DSD\u2010Expert Center Erasmus MC Sophia Children's Hospital University Medical Center, Rotterdam  The Netherlands"},{"name":"Department of Clinical Genetics Erasmus MC University Medical Center, Rotterdam  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene A. L.","family":"Groenenberg","sequence":"additional","affiliation":[{"name":"DSD\u2010Expert Center Erasmus MC Sophia Children's Hospital University Medical Center, Rotterdam  The Netherlands"},{"name":"Department of Obstetrics and Prenatal Medicine Erasmus MC University Medical Center, Rotterdam  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten F. C. M.","family":"Knapen","sequence":"additional","affiliation":[{"name":"DSD\u2010Expert Center Erasmus MC Sophia Children's Hospital University Medical Center, Rotterdam  The Netherlands"},{"name":"Department of Obstetrics and Prenatal Medicine Erasmus MC University Medical Center, Rotterdam  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arianne B.","family":"Dessens","sequence":"additional","affiliation":[{"name":"DSD\u2010Expert Center Erasmus MC Sophia Children's Hospital University Medical Center, Rotterdam  The Netherlands"},{"name":"Department of Child and Adolescent Psychiatry Erasmus MC University Medical Center Rotterdam  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine E.","family":"Hannema","sequence":"additional","affiliation":[{"name":"DSD\u2010Expert Center Erasmus MC Sophia Children's Hospital University Medical Center, Rotterdam  The Netherlands"},{"name":"Department of Pediatric Endocrinology Erasmus MC University Medical Center Rotterdam  The Netherlands"},{"name":"Department of Pediatrics Leiden University Medical Center  Leiden The Netherlands"},{"name":"Department of Paediatric Endocrinology Amsterdam University Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja P.","family":"Wolffenbuttel","sequence":"additional","affiliation":[{"name":"DSD\u2010Expert Center Erasmus MC Sophia Children's Hospital University Medical Center, Rotterdam  The Netherlands"},{"name":"Department of Urology and Pediatric Urology Erasmus MC University Medical Center Rotterdam  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2637-9998","authenticated-orcid":false,"given":"Karin E. M.","family":"Diderich","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center, Rotterdam  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lies H.","family":"Hoefsloot","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center, Rotterdam  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3429-6156","authenticated-orcid":false,"given":"Malgorzata I.","family":"Srebniak","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center, Rotterdam  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hennie T.","family":"Bruggenwirth","sequence":"additional","affiliation":[{"name":"DSD\u2010Expert Center Erasmus MC Sophia Children's Hospital University Medical Center, Rotterdam  The Netherlands"},{"name":"Department of Clinical Genetics Erasmus MC University Medical Center, Rotterdam  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8,20]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006\u20100738"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102019\u2010106354"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2019.11.005"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35338"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.569548"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/mop.0000000000000644"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2017.09.027"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5522"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)31940-8"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(18)32042\u20107"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5195"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5737"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010017\u20101860\u20101"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5102"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.13871"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100731\u20107"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ogc.2017.10.003"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010019\u201002085\u20107"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010018\u20100239\u20107"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5332"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5172"},{"key":"e_1_2_11_23_1","unstructured":"NVOG richtlijn foetale groeirestrictie.2017.https:\/\/www.nvog.nl\/wp\u2010content\/uploads\/2017\/12\/Foetate\u2010groeirestricie\u2010FGR\u201015\u201009\u20102017.pdf"},{"key":"e_1_2_11_24_1","unstructured":"https:\/\/www.erasmusmc.nl\/nl\u2010nl\/patientenzorg\/laboratoriumspecialismen\/klinische\u2010genetica"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.193"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100686\u20108"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_28_1","unstructured":"vanBeverY Br\u00fcggenwirthH DessensAB et\u00a0al.Multidisciplinaire richtlijn Diagnostiek bij disorders\/differences of sex development (DSD).2017.https:\/\/www.vkgn.org\/files\/93\/Richtlijn%20DSD2017.pdf"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12857"},{"key":"e_1_2_11_30_1","unstructured":"http:\/\/srhr.org\/fetalgrowthcalculator\/"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755\u20108166\u20103\u201013"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2015.10.030"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq287"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1590\/s0100\u2010720320150005373"},{"key":"e_1_2_11_35_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Deardorff MA","year":"1993"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008480\u2010200312000\u201000004"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.56"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010020\u20100626\u20108"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.215"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.8103"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14010"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005392\u2010200009020\u201000016"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100499\u20109"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010021\u201000964\u20100"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010018\u20100284\u20102"},{"key":"e_1_2_11_46_1","doi-asserted-by":"publisher","DOI":"10.1017\/thg.2015.55"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2019.02.022"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10728\u2010009\u20100111\u20106"},{"key":"e_1_2_11_49_1","unstructured":"http:\/\/www.bio\u2010bwa.sourceforge.net\/"},{"key":"e_1_2_11_50_1","unstructured":"http:\/\/www.broadinstitute.org\/gatk\/"},{"key":"e_1_2_11_51_1","unstructured":"https:\/\/varnomen.hgvs.org"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6205","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6205","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6205","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T00:01:50Z","timestamp":1721088110000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,20]]},"references-count":50,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1002\/pd.6205"],"URL":"https:\/\/doi.org\/10.1002\/pd.6205","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,20]]},"assertion":[{"value":"2021-11-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}