Hispanic Infants with Cystic Fibrosis Show Low CFTR Mutation Detection Rates in the Illinois Newborn Screening Program

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...

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Bibliographic Details
Published in:Journal of genetic counseling 2012-10, Vol.21 (5), p.671-675
Main Authors: Watts, Kimberly Danieli, Layne, Benjamin, Harris, Ann, McColley, Susanna A.
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Clinical Psychology
Cystic fibrosis
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Data processing
Detection
Epidemiology
Ethics
Ethnic groups
Genetic epidemiology
Genetic screening
Gynecology
Health care
Health disparities
Hispanic Americans
Hispanic people
Human Genetics
Humans
Illinois
Infant, Newborn
Infants
Lung disease
Medical screening
Mutation
Neonatal Screening
Neonates
Newborn babies
Newborn screening
Original Research
Public Health
Reviews
Screening
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Description
Summary: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  
ISSN:1059-7700
1573-3599
DOI:10.1007/s10897-012-9481-2