Document Detail


Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome.
MedLine Citation:
PMID:  8052574     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
I Bartels; J Caesar; U Sancken
Related Documents :
15915084 - Trends in the use of second trimester maternal serum screening from 1991 to 2003.
24695104 - Effect of vitamin b deprivation during pregnancy and lactation on homocysteine metaboli...
11387304 - Are elevated fsh concentrations in the pre-conceptional period a risk factor for down's...
15203574 - Maternal serum screening for trisomy 21 in women with a false positive result in last p...
17701774 - Iodine and thyroid hormones during pregnancy and postpartum.
7726494 - Effect of zidovudine on transplacental pharmacokinetics of ddi in the pigtailed macaque...
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  14     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1994 Mar 
Date Detail:
Created Date:  1994-09-08     Completed Date:  1994-09-08     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  227-9     Citation Subset:  IM    
Affiliation:
Institute of Human Genetics, University of Göttingen, Germany.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Down Syndrome / diagnosis*
Estriol / blood*
Female
Hematologic Tests
Humans
Ichthyosis / diagnosis*,  genetics
Linkage (Genetics)*
Male
Mass Screening / methods
Pregnancy
Prenatal Diagnosis / methods*
X Chromosome*
Chemical
Reg. No./Substance:
50-27-1/Estriol

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Significance of septations in isolated fetal cystic hygroma detected in the first trimester.
Next Document:  Bioavailability to rats of iron from fortified grain amaranth.