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    
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.
Abigail M Bales; Christina A Zaleski; Elizabeth W McPherson
Related Documents :
8546996 - Keratoderma with scleroatrophy of the extremities or sclerotylosis (huriez syndrome): a...
8638216 - Polyposis coli, craniofacial exostosis and astrocytoma: the concomitant occurrence of t...
8256806 - The williams syndrome: evidence for possible autosomal dominant inheritance.
17431906 - Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnorm...
25280796 - Ganser-like syndrome after loss of psychic self-activation syndrome: psychogenic or org...
7806836 - Reactive hemophagocytic syndrome simulating acute hepatitis. a case due to hepatic peri...
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    
Marshfield Clinic, Marshfield, WI, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Family / psychology*
Infant, Newborn
Neonatal Screening / psychology*
Young Adult

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

Previous Document:  Deposition of Albuterol Aerosol Generated by Pneumatic Nebulizer in the Sophia Anatomical Infant Nos...
Next Document:  "My Child is Shy and Has No Friends: What Does Parenting Have to Do with It?".