{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T00:55:58Z","timestamp":1776128158100,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T00:00:00Z","timestamp":1349827200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Scand J Immunol"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this study, we investigated how to prenatally diagnose <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked chronic granulomatous disease (<jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">CGD<\/jats:styled-content>) effectively and accurately. Percutaneous umbilical blood sampling was conducted in the 22nd week of pregnancy. <jats:styled-content style=\"fixed-case\">NADPH<\/jats:styled-content> oxidase activity and gp91<jats:sup>phox<\/jats:sup> protein expression of neutrophils were analysed using flow cytometry. Direct sequencing was used to detect <jats:italic><jats:styled-content style=\"fixed-case\">CYBB<\/jats:styled-content><\/jats:italic> gene mutations. Umbilical blood was obtained from seven foetuses whose mothers were <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">CGD<\/jats:styled-content> carriers. Six foetuses, whose mothers needed prenatal diagnosis because of other diseases, were used as control. The neutrophils in all 13 foetuses showed lower hydrogen peroxide generation (stimulation index\u00a0&lt;\u00a0100) and gp91<jats:sup>phox<\/jats:sup> protein expression. Among the seven foetuses whose mothers were <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">CGD<\/jats:styled-content> carriers, four foetuses (<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content>amily 2, 4, 5 and 7) had <jats:italic><jats:styled-content style=\"fixed-case\">CYBB<\/jats:styled-content><\/jats:italic> gene mutations and showed very low hydrogen peroxide generation (stimulation index\u00a0&lt;\u00a010) and no gp91<jats:sup>phox<\/jats:sup> expression. The other three foetuses (<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content>amily 1, 3 and 6) had no <jats:italic><jats:styled-content style=\"fixed-case\">CYBB<\/jats:styled-content><\/jats:italic> gene mutations and showed stimulation index of 20\u201350 and partial or normal gp91<jats:sup>phox<\/jats:sup> protein expression (no difference with controls). Two of the three mothers (<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content>amily 1 and 3) have delivered healthy infants with normal hydrogen peroxide generation and expression of gp91<jats:sup>phox<\/jats:sup> in neutrophils. Combined with direct sequencing, dihydrorhodamine oxidation analysis and gp91<jats:sup>phox<\/jats:sup> protein detection is an effective and accurate method for prenatal screening for <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">CGD<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/j.1365-3083.2012.02772.x","type":"journal-article","created":{"date-parts":[[2012,8,24]],"date-time":"2012-08-24T15:41:19Z","timestamp":1345822879000},"page":"512-518","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Prenatal Diagnosis of X\u2010Linked Chronic Granulomatous Disease by Percutaneous Umbilical Blood Sampling"],"prefix":"10.1111","volume":"76","author":[{"given":"J.","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Clinical Immunology Children's Hospital of Fudan University Shanghai 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