| Patient and family experiences and opinions on adding 22q11 deletion syndrome to the newborn screen. | |
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MedLine Citation:
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PMID: 20496046 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Abigail M Bales; Christina A Zaleski; Elizabeth W McPherson |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-05-22 |
Journal Detail:
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Title: Journal of genetic counseling Volume: 19 ISSN: 1573-3599 ISO Abbreviation: J Genet Couns Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-24 Completed Date: 2011-01-03 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9206865 Medline TA: J Genet Couns Country: United States |
Other Details:
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Languages: eng Pagination: 526-34 Citation Subset: IM |
Affiliation:
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Marshfield Clinic, Marshfield, WI, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 22* Family / psychology* Humans Infant Infant, Newborn Neonatal Screening / psychology* Young Adult |
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