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Very low uE3 was associated with an adverse outcome in 13 pregnancies including fetal death and miscarriage (<jats:italic>N<\/jats:italic>=11), anencephaly (<jats:italic>N<\/jats:italic>=1), and Meckel\u2014Gruber syndrome (<jats:italic>N<\/jats:italic>=1). Dry scales on the skin appeared in the first year of life in four boys. From dermatological diagnosis, prenatal uE3 levels, and pedigree analysis, it is concluded that at least 5 in approximately 7500 male births in the study population are affected by steroid sulphatase deficiency, which is the biochemical defect in X\u2010linked ichthyosis. Very low uE3 levels in the second trimester are indicative of this disease in pregnancies with normal ultrasound findings.<\/jats:p>","DOI":"10.1002\/pd.1970140316","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T09:35:34Z","timestamp":1173000934000},"page":"227-229","source":"Crossref","is-referenced-by-count":24,"title":["Prenatal detection of X\u2010linked ichthyosis by maternal serum screening for down syndrome"],"prefix":"10.1002","volume":"14","author":[{"given":"Iris","family":"Bartels","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julius","family":"Caesar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Sancken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,12,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90311-X"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970120104"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(82)90085-7"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1980.tb02735.x"},{"key":"e_1_2_1_6_1","first-page":"49","article-title":"Placental steroid sulfatase deficiency: biochemical diagnosis and clinical review","volume":"64","author":"Lykkesfeldt G.","year":"1984","journal-title":"Obstet. 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