Document Detail


Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned?
MedLine Citation:
PMID:  20721872     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: Although prenatal diagnosis and genotyping are available for Gaucher disease, genetic counseling for an affected child's parents reflects the inability to predict disease course with certainty. The purpose of this survey is to ascertain disease status of children identified by prenatal screening.
METHODS: All carrier couples for glucocerebrosidase mutations who were counseled at our large Gaucher Clinic were included; none had genotyped the fetus. Medical status of children was assessed by questionnaires and data were collected from clinic charts and/or telephone contact with the parents.
RESULTS: Of 34 children born, 1 died in utero, 5 fetuses (N370S/N370S) aborted. Of 21 genotyped N370S/N370S, 7 children had Gaucher-like symptoms/signs but for only one child (two symptoms) were these ascribable to Gaucher disease; four children had non-Gaucher symptoms/signs.
CONCLUSION: Of 21 children whose parents pursued prenatal counseling for Gaucher disease and were found to have the N370S/N370S genotype, none has presented with severe disease with follow-up of 15 years. The Israeli experience shows that Gaucher disease N370S screening does not identify children requiring treatment, but rather leads to termination of asymptomatic fetuses; this may lead to reconsideration of guidelines regarding Gaucher screening.
Authors:
Yael Eitan; Ayala Abrahamov; Mici Phillips; Deborah Elstein; Ari Zimran
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  30     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-29     Completed Date:  2011-01-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  924-7     Citation Subset:  IM    
Copyright Information:
© 2010 John Wiley & Sons, Ltd.
Affiliation:
Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem 91031, Israel.
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MeSH Terms
Descriptor/Qualifier:
Abortion, Eugenic
Female
Gaucher Disease / diagnosis,  ethnology,  genetics*
Genetic Counseling*
Genetic Markers
Genotype
Glucosylceramidase / genetics
Heterozygote
Homozygote*
Humans
Infant, Newborn
Israel / epidemiology
Jews / ethnology
Male
Mutation
Phenotype
Prenatal Diagnosis
Registries
Chemical
Reg. No./Substance:
0/Genetic Markers; EC 3.2.1.45/Glucosylceramidase

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


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