title: Antenatal molecular diagnosis of X-linked ichthyosis by maternal serum screening for Down's syndrome.
abstract: A case of X-linked ichthyosis diagnosed antenatally by molecular analysis of fetal DNA is described. The diagnosis was made at 16 weeks gestation, following the finding of a maternal serum unconjugated estriol level lower than 0.1 MoM when performing a triple test. Fetal DNA was obtained from cultured amniocytes; two specific regions were amplified by polymerase chain reaction at 5' and 3' ends of the steroid sulfatase (STS) gene on Xp22.3 region. Analysis showed complete deletion of the STS gene on the distal tip of the X-chromosome short arm.
authors.affiliation: Department of Obstetrics and Gynecology, Center for Prenatal Diagnosis, IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Di Mario
authors.forename: A
authors.initials: A
authors.lastname: Ferrari
authors.forename: V
authors.initials: V
authors.lastname: Morales
authors.forename: D
authors.initials: D
authors.lastname: Perosin
authors.forename: F
authors.initials: F
authors.lastname: Pazzoni
authors.forename: G
authors.initials: G
authors.lastname: Piazzi
mesh_terms: D000649:Amniocentesis; D001192:Arylsulfatases / Q000235:genetics; D004252:DNA Mutational Analysis; D004314:Down Syndrome / Q000175:diagnosis*; D004964:Estriol / Q000097:blood*; D005260:Female; D017353:Gene Deletion; D008040:Genetic Linkage; D005865:Gestational Age; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics*; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D043266:Steryl-Sulfatase; D014960:X Chromosome
chemical_list: D001192:Arylsulfatases; D043266:Steryl-Sulfatase; D004964:Estriol