Document Detail

Attitudes of couples identified through screening as carriers of Gaucher disease type 1.
MedLine Citation:
PMID:  18651845     Owner:  NLM     Status:  MEDLINE    
Gaucher disease (GD) type 1 is the most frequent autosomal recessive disorder among Ashkenazi Jews, but because the phenotype is tremendously variable, including it in the 'Ashkenazi Panel' of carrier screening is controversial. As part of a nationwide study conducted in Israel to evaluate the outcomes of carrier screening for GD, we studied the experience of 65/82 (79%) of the couples identified as being at risk for an affected child. We found that pre-test information was regarded as insufficient and improved in post-result counseling. About 70% of the subjects interpreted the genetic counseling as directive, mostly toward prenatal diagnosis (PND) but against pregnancy termination of affected fetuses. We evaluated the various motivations that had led couples to utilize PND. Subjects' attitudes toward pregnancy termination correlated with their specific genotypes, with their perception of the severity of GD and with attending additional medical consultation. Of the 30 interviewed participants who were faced with having an affected fetus, 80% came to terms with their decision to utilize PND, but about half of the few who terminated the pregnancy regret their decision. Despite questionable benefits of screening, most of the participants did not regret having been tested and supported the continuation of this program. We offer explanations for these findings and suggest extensive genetic and medical counseling for any future carrier screening for low penetrance, treatable disease.
S Zuckerman; A Lahad; A Zimran; E Levy-Lahad; M Sagi
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Publication Detail:
Type:  Journal Article     Date:  2008-07-21
Journal Detail:
Title:  Clinical genetics     Volume:  74     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-11-28     Completed Date:  2009-02-04     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  566-70     Citation Subset:  IM    
Genetic Counseling Program, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
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MeSH Terms
Family Characteristics*
Gaucher Disease / genetics*
Genetic Testing / psychology*,  statistics & numerical data*
Health Knowledge, Attitudes, Practice*
Prenatal Diagnosis / psychology*,  statistics & numerical data*
Risk Assessment

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

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