Document Detail

Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels.
MedLine Citation:
PMID:  7516514     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To report an association between fetal oculocerebrorenal syndrome of Lowe and elevations in maternal serum alpha-fetoprotein (MSAFP) and amniotic fluid alpha-fetoprotein (AFAFP). METHODS: Case 1 was identified during routine MSAFP screening. Cases 2-5 were identified through review of a data base of individuals with oculocerebrorenal syndrome enrolled at the National Institutes of Health. To estimate the frequency of this association, only those whose mothers would have been in the early second trimester from February 1987 to August 1993 were enumerated. The MSAFP was assumed to be normal unless explicitly reported or unless information outside the data base confirmed that MSAFP was not determined. RESULTS: An elevated MSAFP (2.5 multiples of the median [MoM] or greater) was detected in five of 20 pregnancies with a fetus affected by oculocerebrorenal syndrome. Maternal serum alpha-fetoprotein was greater than 5.0 MoM in three pregnancies undergoing amniocentesis, and all had an elevated AFAFP without significant acetylcholinesterase activity. No abnormalities were found by ultrasound, and there was no other cause of elevated AFP identified postnatally. Family history was positive in three of the five cases. The mothers were carriers in four of the five cases, whereas the fifth case appeared to be a spontaneous mutation. CONCLUSIONS: Elevated MSAFP and AFAFP appear to occur at a higher than expected frequency in pregnancies carrying an oculocerebrorenal syndrome fetus. The mechanism of elevation of AFP may be related to fetal renal tubular dysfunction. A directed interview, focusing on a maternal family history of male relatives with unexplained mental retardation, early institutionalization, or congenital rubella, is appropriate with unexplained MSAFP elevations and, particularly, with unexplained AFAFP elevations without acetylcholinesterase activity.
R C Miller; E J Wolf; M Gould; C J Macri; L R Charnas
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Obstetrics and gynecology     Volume:  84     ISSN:  0029-7844     ISO Abbreviation:  Obstet Gynecol     Publication Date:  1994 Jul 
Date Detail:
Created Date:  1994-07-21     Completed Date:  1994-07-21     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0401101     Medline TA:  Obstet Gynecol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  77-80     Citation Subset:  AIM; IM    
Department of Obstetrics and Gynecology, National Naval Medical Center, Uniformed Services University of the Health Sciences, Bethesda, Maryland.
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MeSH Terms
Acetylcholinesterase / analysis
Amniotic Fluid / chemistry*
Databases, Factual
Fetal Diseases / diagnosis,  epidemiology*,  genetics,  prevention & control
Genetic Testing
Gestational Age
Heterozygote Detection
Medical History Taking
Oculocerebrorenal Syndrome / diagnosis,  epidemiology*,  genetics,  prevention & control
Pregnancy / blood*
Prenatal Diagnosis / methods*
Risk Factors
alpha-Fetoproteins / analysis*
Reg. No./Substance:
0/alpha-Fetoproteins; EC

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

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