title: Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency.
abstract: Twenty-four women out of 7,875 pregnant women who enrolled in a prenatal screening program showed extremely low levels of unconjugated estriol (< 0.15 MOM). In 19 cases, intrauterine fetal death was reported. In 1 case anencephalus was detected. In the remaining 4 cases apparently normal healthy babies (1 female and 3 males) were born following uneventful pregnancies. Physical examination of the 3 boys at 4-6 weeks revealed mild ichthyosis compatible with the X-linked type. Two of them had a positive family history of X-linked ichthyosis. The examination of the girl did not reveal any significant findings. In both cases in which amniocentesis was performed, low levels of steroid sulfatase and arylsulfatase C were found. The prevalence of X-linked ichthyosis in this study is higher than previously reported, i.e. 1:1,300 males. Our results suggest that the prenatal screening program for neural tube defects and for Down's syndrome is useful for the prenatal detection of X-linked ichthyosis as well. These results are in accordance with two recent reports. The implications regarding genetic counseling are discussed.
authors.affiliation: Simon Winter Institute of Human Genetics, Bnai Zion Medical Center, Haifa, Israel.
authors.forename: M
authors.initials: M
authors.lastname: David
authors.forename: N
authors.initials: N
authors.lastname: Israel
authors.forename: R
authors.initials: R
authors.lastname: Merksamer
authors.forename: N
authors.initials: N
authors.lastname: Bar-Nizan
authors.forename: Z
authors.initials: Z
authors.lastname: Borochowitz
authors.forename: H
authors.initials: H
authors.lastname: Bar-el
authors.forename: I
authors.initials: I
authors.lastname: Yehudai
authors.forename: H
authors.initials: H
authors.lastname: Dar
mesh_terms: D000328:Adult; D000649:Amniocentesis; D001192:Arylsulfatases / Q000172:deficiency*; D015415:Biomarkers / Q000097:blood; D004964:Estriol / Q000097:blood*; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000175:diagnosis* / Q000201:enzymology; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second / Q000097:blood; D011296:Prenatal Diagnosis / Q000379:methods*; D015995:Prevalence; D043266:Steryl-Sulfatase
chemical_list: D015415:Biomarkers; D001192:Arylsulfatases; D043266:Steryl-Sulfatase; D004964:Estriol