{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T15:08:22Z","timestamp":1776524902514,"version":"3.51.2"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2002,10,1]],"date-time":"2002-10-01T00:00:00Z","timestamp":1033430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>It has been previously reported that a low or absent maternal serum unconjugated estriol (uE3) level is associated with placental steroid sulfatase (STS) deficiency. Here we report a correlation between patients who present with a very low or absent maternal serum uE3 and a deletion of the <jats:italic>STS<\/jats:italic> gene as assessed by fluorescence <jats:italic>in situ<\/jats:italic> hybridization (FISH). We studied nine prenatal cases that presented to the clinical laboratory with an abnormal triple screen, specifically low or absent maternal serum uE3 and a 46,XY karyotype. FISH analysis showed complete deletion of a probe containing the <jats:italic>STS<\/jats:italic> gene in six cases and one case had a partial deletion (reduced but not absent signal). The remaining two cases were not deleted for the <jats:italic>STS<\/jats:italic> probe. All mothers tested whose fetus showed a deletion were shown to be <jats:italic>STS<\/jats:italic> deletion carriers using FISH. Biochemical analysis was performed on 7\/9 prenatal specimens. All fetuses deleted for the <jats:italic>STS<\/jats:italic> probe were also found to be deficient for STS by biochemical analysis of cultured amniotic fluid (5\/5). Of the two fetuses not deleted for the <jats:italic>STS<\/jats:italic> probe, one was deficient for STS activity, while the other had a normal result. The abnormal result of enzyme deficiency by biochemical analysis in a non\u2010deletion case likely represents a mutation in the <jats:italic>STS<\/jats:italic> gene, not detectable by this FISH assay. Postnatal FISH confirmation of the <jats:italic>STS<\/jats:italic> deletion was performed in 1\/7 cases. Clinical follow\u2010up was available for 4\/9 cases following birth. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.466","type":"journal-article","created":{"date-parts":[[2002,11,8]],"date-time":"2002-11-08T15:25:37Z","timestamp":1036769137000},"page":"1028-1032","source":"Crossref","is-referenced-by-count":36,"title":["Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence <i>in situ<\/i> hybridization and biochemical analysis"],"prefix":"10.1002","volume":"22","author":[{"given":"Catherine D.","family":"Kashork","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. 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