Document Detail

Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome.
MedLine Citation:
PMID:  8052574     Owner:  NLM     Status:  MEDLINE    
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.
I Bartels; J Caesar; U Sancken
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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    
Institute of Human Genetics, University of Göttingen, Germany.
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MeSH Terms
Down Syndrome / diagnosis*
Estriol / blood*
Hematologic Tests
Ichthyosis / diagnosis*,  genetics
Linkage (Genetics)*
Mass Screening / methods
Prenatal Diagnosis / methods*
X Chromosome*
Reg. No./Substance:

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