{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T14:00:28Z","timestamp":1787666428118,"version":"build-2736575974"},"reference-count":55,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,1,8]],"date-time":"2023-01-08T00:00:00Z","timestamp":1673136000000},"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":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>The aim was to determine the accuracy of cell\u2010free DNA testing (cfDNA) for detecting sex chromosome aneuploidies (SCA) in singleton pregnancies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A systematic review and meta\u2010analysis was performed to assess cfDNA accuracy for prenatal detection of 45,X, 47,XXY, 47,XXX and 47,XYY. Inclusion was restricted to studies published between January 2010 and December 2021 reporting both cfDNA and confirmatory diagnostic test results.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>For 45,X, the sensitivity was 98.8% (95%CI 94.6%\u2013100%), specificity 99.4% (95%CI 98.7%\u201399.9%) and positive predictive value (PPV) 14.5% (95%CI 7.0%\u201343.8%). For 47,XXY, the sensitivity was 100% (95%CI 99.6%\u2013100%), specificity 100% (95%CI 99.9%\u2013100%) and PPV 97.7% (95%CI 78.6%\u2013100%). For 47,XXX, the sensitivity was 100% (95%CI 96.9%\u2013100%), specificity 99.9% (95%CI 99.7%\u2013100%) and PPV 61.6% (95%CI 37.6%\u201395.4%). For 47,XYY, the sensitivity was 100% (95%CI 91.3%\u2013100%), specificity 100% (95% CI 100%\u2013100%) and PPV 100% (95%CI 76.5%\u2013100%). All four SCAs had estimated negative predictive values (NPV) exceeding 99.99%, though false negatives were reported.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This analysis suggests that cfDNA is a reliable screening test for SCA, though both false negatives and false positives were reported. These estimates of test performance are derived from pregnancies at high pretest risk for aneuploidy, limiting the generalisability to average risk pregnancies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6298","type":"journal-article","created":{"date-parts":[[2023,1,2]],"date-time":"2023-01-02T00:04:00Z","timestamp":1672617840000},"page":"133-143","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["A systematic review and meta\u2010analysis of cell\u2010free DNA testing for detection of fetal sex chromosome aneuploidy"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4134-5665","authenticated-orcid":false,"given":"Matthew A.","family":"Shear","sequence":"first","affiliation":[{"name":"Department of Obstetrics, Gynecology, &amp; Reproductive Sciences University of California  San Francisco California USA"},{"name":"Department of Pediatrics Division of Medical Genetics University of California  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1174-1501","authenticated-orcid":false,"given":"Kate","family":"Swanson","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology, &amp; Reproductive Sciences University of California  San Francisco California USA"},{"name":"Department of Pediatrics Division of Medical Genetics University of California  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ria","family":"Garg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Medical Genetics 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":"Department of Gynecology and Obstetrics The Johns Hopkins Hospital  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Boscardin","sequence":"additional","affiliation":[{"name":"Department of Medicine University of California  San Francisco California USA"},{"name":"Department of Epidemiology and Biostatistics University of California  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary E.","family":"Norton","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology, &amp; Reproductive Sciences University of California  San Francisco California USA"},{"name":"Department of Pediatrics Division of Medical Genetics University of California  San Francisco California USA"},{"name":"Institute of Human Genetics University of California  San Francisco California USA"},{"name":"Center for Maternal Fetal Precision Medicine University of California  San Francisco California 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":"Department of Obstetrics, Gynecology, &amp; Reproductive Sciences University of California  San Francisco California USA"},{"name":"Institute of Human Genetics University of California  San Francisco California USA"},{"name":"Center for Maternal Fetal Precision Medicine University of California  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,1,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD011767"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010021\u201000955\u20106"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5207"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2014.882306"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(97)02174\u20100"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000004084"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5928"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2022.01.036"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2022.01.019"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.265"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.312.7022.16"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471\u20100528.14050"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000358326"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1654"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5118"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5621"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17484"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20284"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen\u20102015\u2010010002"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5529"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15975"},{"issue":"20","key":"e_1_2_9_23_1","first-page":"347","article-title":"Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated","volume":"110","author":"Nieschlag E","year":"2013","journal-title":"Dtsch Arzteblatt Int"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6217"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5044"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5580"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003\u20104819\u2010155\u20108\u2010201110180\u201000009"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/2049\u20103258\u201072\u201039"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4951"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040704"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1097\/aog.0b013e318258c419"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/aog.0b013e31828ba3d8"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010021\u201001147\u20104"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4338"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2011.635730"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2016.02.030"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010018\u20100407\u2010z"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4033"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4127"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2015.04.001"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4103"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ogx.0000450115.09778.f5"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1097\/aog.0000000000000363"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4773"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2017.10.005"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.03.042"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1177\/0969141319873682"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2011.165910"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5178"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.13460"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00069"},{"key":"e_1_2_9_52_1","volume-title":"Smith\u2019s Recognizable Patterns of Human Malformation","author":"Jones K","year":"2021"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10391"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6071"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.109"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje\u201017\u20100430"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6298","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6298","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6298","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T00:02:43Z","timestamp":1721088163000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6298"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,8]]},"references-count":55,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1002\/pd.6298"],"URL":"https:\/\/doi.org\/10.1002\/pd.6298","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,8]]},"assertion":[{"value":"2022-09-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-08","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}