Document Detail


Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein.
MedLine Citation:
PMID:  7510931     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on the prenatal diagnosis of epidermolysis bullosa letalis with pyloric atresia in a pregnancy not known to be at risk for this condition. Elevated maternal serum alpha-fetoprotein levels led to ultrasonography which demonstrated gastric dilatation, consistent with pyloric atresia, and echogenic particles in the amniotic fluid, the "snowflake sign," previously described in two pregnancies of fetuses with disorders of skin sloughing. Amniotic fluid alpha-fetoprotein was markedly elevated and the acetylcholinesterase was positive. The diagnosis of epidermolysis bullosa letalis with pyloric atresia was confirmed after delivery by electron microscopy of fetal skin which showed typical changes of hypoplastic absent hemidesmosomes and separation along the dermal-epidermal junction. None of these abnormal prenatal findings are consistently present in pregnancies with epidermolysis bullosa with pyloric atresia. Thus, although useful when abnormal, when the test results are normal, the need for confirmatory fetoscopy and fetal skin biopsy remains.
Authors:
C R Dolan; L T Smith; V P Sybert
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  47     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1993 Sep 
Date Detail:
Created Date:  1994-04-19     Completed Date:  1994-04-19     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  395-400     Citation Subset:  IM    
Affiliation:
Inland Northwest Genetics Clinic, Spokane, Washington 99210-0248.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis*,  embryology
Adolescent
Amniotic Fluid / chemistry*
Biopsy
Consanguinity
Epidermolysis Bullosa / diagnosis*,  embryology,  genetics,  pathology
Fatal Outcome
Female
Fetal Diseases / diagnosis*
Fetoscopy
Genes, Lethal
Humans
Infant, Newborn
Pregnancy
Prenatal Diagnosis*
Pylorus / abnormalities*
Skin / embryology,  pathology
Ultrasonography, Prenatal*
alpha-Fetoproteins / analysis*
Grant Support
ID/Acronym/Agency:
N01AM 62272/AM/NIADDK NIH HHS; P01-AR21557/AR/NIAMS NIH HHS; R37HD17664/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/alpha-Fetoproteins

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


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