title: Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome.
abstract: Maternal serum unconjugated oestriol (uE3) was measured in 15,375 pregnancies during 2 years of second-trimester risk assessment for Down syndrome using biochemical markers. Very low levels of uE3 (< 0.1 MOM) were detected in 22 serum samples (0.14 per cent). Very low uE3 was associated with an adverse outcome in 13 pregnancies including fetal death and miscarriage (N = 11) anencephaly (N = 1), and Meckel-Gruber syndrome (N = 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-linked ichthyosis. Very low uE3 levels in the second trimester are indicative of this disease in pregnancies with normal ultrasound findings.
authors.affiliation: Institute of Human Genetics, University of Göttingen, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Bartels
authors.forename: J
authors.initials: J
authors.lastname: Caesar
authors.forename: U
authors.initials: U
authors.lastname: Sancken
mesh_terms: D004314:Down Syndrome / Q000175:diagnosis*; D004964:Estriol / Q000097:blood*; D005260:Female; D008040:Genetic Linkage; D006403:Hematologic Tests; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008403:Mass Screening / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014960:X Chromosome
chemical_list: D004964:Estriol