Document Detail


Patient and family experiences and opinions on adding 22q11 deletion syndrome to the newborn screen.
MedLine Citation:
PMID:  20496046     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
22q11 deletion syndrome (22qDS) has recently been proposed for addition to the newborn screening panel in Wisconsin and it seems likely that it may soon be considered in other states as well. Input from patients with 22qDS and their family was gathered from 21 phone interviews. Cardiac, palate, hypocalcemia, and multiple anomalies were common reasons for involved patients to be diagnosed, though age at diagnosis ranged from birth to adulthood. Many commented on their struggles with 22qDS, including worries about the future and the patient's independence. In general, respondents favored newborn screening for 22qDS because it would help prevent some medical problems, increase access to services, explain existing problems, and identify mild cases. However, a minority expressed reservations, including concerns that it would disrupt bonding, could be too costly, and would not be useful for mild cases.
Authors:
Abigail M Bales; Christina A Zaleski; Elizabeth W McPherson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-05-22
Journal Detail:
Title:  Journal of genetic counseling     Volume:  19     ISSN:  1573-3599     ISO Abbreviation:  J Genet Couns     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-24     Completed Date:  2011-01-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9206865     Medline TA:  J Genet Couns     Country:  United States    
Other Details:
Languages:  eng     Pagination:  526-34     Citation Subset:  IM    
Affiliation:
Marshfield Clinic, Marshfield, WI, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Family / psychology*
Humans
Infant
Infant, Newborn
Neonatal Screening / psychology*
Young Adult

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


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