Document Detail

Hispanic Infants with Cystic Fibrosis Show Low CFTR Mutation Detection Rates in the Illinois Newborn Screening Program.
MedLine Citation:
PMID:  22311127     Owner:  NLM     Status:  Publisher    
States develop specific protocols for cystic fibrosis (CF) newborn screening to reflect the population served. We hypothesized that mutation distribution and detection rates would differ between Hispanic and non-Hispanic CF patients diagnosed by IL newborn screen with more Hispanic infants carrying mutations not detected by the state panel. Data from CF cases diagnosed via newborn screen in IL between 3/1/2008 and 10/31/2010 were reviewed. More Hispanic infants with CF had one or more undefined mutations after screening, in comparison to non-Hispanic Caucasian patients (40% vs. 9.5%; p < 0.002). The risk of having a positive diagnosis of CF with only one mutation noted by positive newborn screen increases 2-fold in Hispanic Caucasian versus non-Hispanic Caucasian infants (5% vs. 2.4%). Health care providers must be aware of the limitations of CF newborn screening to ensure appropriate counseling and prompt referral for a positive newborn screen, even when zero or one mutations are identified.
Kimberly Danieli Watts; Benjamin Layne; Ann Harris; Susanna A McColley
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-2-4
Journal Detail:
Title:  Journal of genetic counseling     Volume:  -     ISSN:  1573-3599     ISO Abbreviation:  -     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-2-7     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9206865     Medline TA:  J Genet Couns     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
The Division of Pulmonary Medicine, Children's Memorial Hospital, Chicago, IL, USA,
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