{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:51:28Z","timestamp":1786978288284,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,12,7]],"date-time":"2021-12-07T00:00:00Z","timestamp":1638835200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100013774","name":"Fetal Health Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013774","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5K12HD001262\u201018"],"award-info":[{"award-number":["5K12HD001262\u201018"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5K23DK119949\u201002"],"award-info":[{"award-number":["5K23DK119949\u201002"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K23HDD088742"],"award-info":[{"award-number":["K23HDD088742"]}],"id":[{"id":"10.13039\/100000002","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":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>There is a paucity of knowledge regarding the prenatal presentation of Klinefelter syndrome, or 47, XXY. Accurate prenatal counseling is critical and in utero diagnosis is currently limited by a poor understanding of the prenatal phenotype of this condition.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This is a case series of fetuses with cytogenetically confirmed 47, XXY in the prenatal period or up to age 5\u00a0years, with prenatal records available for review from four academic institutions between 2006 and 2019. Ultrasound reports were reviewed in detail to assess for increased nuchal translucency and structural abnormalities. Additionally, we reviewed results of cell\u2010free DNA and serum analyte testing when performed to inform our understanding of the detection of fetal 47, XXY through standard genetic screening tests.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Forty\u2010one cases with confirmed cytogenetic diagnosis of 47, XXY and prenatal records available for review were identified: 37 had a prenatal diagnosis and 4 had a postnatal diagnosis. Nuchal translucency was increased \u22653.0\u00a0mm in 23.1% (6\/26) of cases with a documented measurement. In 29.2% (7\/24) of cases with a second trimester anatomical ultrasound available for review, a fetal abnormality was identified (3 brain anomalies, 1 cardiac abnormality, 1 echogenic bowel, and 2 limb abnormalities). Among those who had cell\u2010free DNA and serum analytes performed, 92.6% (25\/27) and 36.3% (4\/11) had an abnormal result respectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case series expands our knowledge of the prenatal presentation of 47, XXY by identifying first and second trimester fetal sonographic abnormalities. Prenatal identification of this condition enables accurate counseling, focused prenatal management, and early postnatal interventions to ameliorate some of the known complications.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6071","type":"journal-article","created":{"date-parts":[[2021,12,7]],"date-time":"2021-12-07T05:19:13Z","timestamp":1638854353000},"page":"207-212","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Prenatal phenotype of 47, XXY (Klinefelter syndrome)"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1174-1501","authenticated-orcid":false,"given":"Kate","family":"Swanson","sequence":"first","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences University of California  San Francisco California USA"},{"name":"Division of Medical Genetics, Department of Pediatrics University of California  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliet C.","family":"Bishop","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Gynecology and Obstetrics The Johns Hopkins University School of Medicine  Baltimore Maryland USA"},{"name":"Department of Genetic Medicine The Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2922-0333","authenticated-orcid":false,"given":"Huda B.","family":"Al\u2010Kouatly","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine Sidney Kimmel Medical College of Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Makhamreh","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine Sidney Kimmel Medical College of Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Felton","sequence":"additional","affiliation":[{"name":"McLendon Clinical Laboratories, Cytogenetics Laboratory University of North Carolina Health  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2504-9455","authenticated-orcid":false,"given":"Neeta L.","family":"Vora","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics and Gynecology University of North Carolina at Chapel Hill School of Medicine  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8593-2186","authenticated-orcid":false,"given":"Teresa N.","family":"Sparks","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences University of California  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1792-4029","authenticated-orcid":false,"given":"Angie C.","family":"Jelin","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine, Department of Gynecology and Obstetrics The Johns Hopkins University School of Medicine  Baltimore Maryland USA"},{"name":"Department of Genetic Medicine The Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,12,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021491"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16678-6"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2011.02156.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/GCO.0000000000000612"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dev192"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-020-0478-5"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2017.10.005"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2015.04.001"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.13877"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/andr.12909"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199806)18:6<581::AID-PD301>3.0.CO;2-6"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61038"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.545"},{"key":"e_1_2_8_16_1","first-page":"CD011767","article-title":"Genomics\u2010based non\u2010invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women","volume":"11","author":"Badeau M","year":"2017","journal-title":"Cochrane Database Syst Rev"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5044"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6071","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6071","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6071","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T00:03:14Z","timestamp":1721088194000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6071"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,7]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1002\/pd.6071"],"URL":"https:\/\/doi.org\/10.1002\/pd.6071","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,7]]},"assertion":[{"value":"2021-07-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}