{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T14:31:23Z","timestamp":1792506683372,"version":"4.5.0"},"reference-count":29,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study aimed to evaluated the clinical utility of an integrated prenatal screening strategy combining non\u2010invasive prenatal testing (NIPT) and maternal serum unconjugated estriol (uE3) quantification for detecting X\u2010linked ichthyosis (XLI) in male fetuses.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Within a retrospective cohort of 95,485 screened pregnancies, 147 cases exhibiting low second\u2010trimester uE3 levels (Multiple of the Median, MoM \u2264 0.3) were identified. Participants were stratified based on uE3 MoM values into Group 1 (uE3\u00a0\u2264\u00a00.1) and Group 2 (0.1\u00a0&lt;\u00a0uE3\u00a0\u2264\u00a00.3). NIPT was performed in 41 cases to detect maternal Xp22.31 microdeletions encompassing the\n                      <jats:italic>STS<\/jats:italic>\n                      gene. Fetal genotypes were verified via chromosomal microarray analysis (CMA) of amniotic fluid in cases opting for invasive prenatal diagnosis. For those without prenatal diagnosis, verification was conducted by\n                      <jats:italic>STS<\/jats:italic>\n                      \u2010specific PCR using newborn heel blood samples.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The incidence of confirmed XLI was significantly higher in Group 1 (49.3%, 35\/71) than in Group 2 (1.3%, 1\/76). Among the 41 cases that underwent NIPT, maternal Xp22.31 deletions were detected in 28 cases. When this deletion combined with an extremely low maternal serum uE3 level (MoM \u2264 0.3), the positive predictive value for XLI reached 100%, which was markedly higher than that of NIPT alone (theoretical \u223c50% PPV) or uE3 screening alone (49.3% PPV).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Integrating NIPT\u2010based maternal CNV detection with maternal serum uE3 quantification significantly improves the accuracy of prenatal XLI screening. This combined approach is most clinically actionable in a specific scenario: a male fetus presenting with normal ultrasound findings, extremely low maternal uE3, and a positive family history of isolated XLI without comorbidities.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70139","type":"journal-article","created":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T04:10:50Z","timestamp":1774584650000},"page":"1000-1007","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Prenatal Screening for Fetal X\u2010Linked Ichthyosis: A Large Cohort Study Combining Non\u2010Invasive Prenatal Testing and Maternal Serum Unconjugated Estriol Analysis"],"prefix":"10.1002","volume":"46","author":[{"given":"Miao","family":"Han","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis Lianyungang Maternal and Child Health Hospital  Lianyungang 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