Integration of New Genetic Diseases into Statewide Newborn Screening: New England Experience
Using a data set of newborn screening specimens tested by the New England Newborn Screening Program (NENSP) between January 1999 and February 2003, we analyzed the number of infants with positive newborn screening results and determined how many positive screening results were due to a recent mult...
Guardado en:
| Autores principales: | , , |
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| Formato: | Artículo |
| Lenguaje: | Inglés |
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Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
2014
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| Acceso en línea: | http://repositorio.ub.edu.ar/handle/123456789/2849 |
| Aporte de: |
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I36-R142-123456789-2849 |
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| record_format |
dspace |
| institution |
Universidad de Belgrano |
| institution_str |
I-36 |
| repository_str |
R-142 |
| collection |
Repositorio Institucional - Universidad de Belgrano (UB) |
| language |
Inglés |
| topic |
newborn screening newborn screening expansion cystic fibrosis screening Evaluación del recién nacido expansión evaluación del recién nacido cribado de la fibrosis quística |
| spellingShingle |
newborn screening newborn screening expansion cystic fibrosis screening Evaluación del recién nacido expansión evaluación del recién nacido cribado de la fibrosis quística Comeau, Anne Marie Larson, Cecilia Eaton, Roger B. Integration of New Genetic Diseases into Statewide Newborn Screening: New England Experience |
| topic_facet |
newborn screening newborn screening expansion cystic fibrosis screening Evaluación del recién nacido expansión evaluación del recién nacido cribado de la fibrosis quística |
| description |
Using a data set of newborn screening specimens tested by the New England Newborn Screening Program
(NENSP) between January 1999 and February 2003, we analyzed the number of infants with positive newborn
screening results and determined how many positive screening results were due to a recent multiplex expansion of
services in some of the states. We found that for the subset of the 4-year cohort for which there was a 233%
increase in the number of disorders screened (from 9 to 30 disorders), there was a 31% increase in the number of
affected infants identified by the screen. We project that if all states in the program expanded their services and if
the incidence of disorders is similar across states, there would be an observed 45% increase in the number of
infants detected by the screen and a 43% increase in the number of infants for whom the screening algorithm
would require some contact with the infants’ health care provider. Furthermore, of those requiring contact, we
project a 300% increase in the number of screened-positive infants who would be referred to tertiary care centers
for a diagnostic evaluation. Increased contact with the medical community from additions to newborn screening
as demonstrated in this report emphasizes the need for an approach in which the newborn screening program
assures coordinated communications between birth units, laboratory, primary health care providers, and
specialists. |
| format |
Article |
| author |
Comeau, Anne Marie Larson, Cecilia Eaton, Roger B. |
| author_facet |
Comeau, Anne Marie Larson, Cecilia Eaton, Roger B. |
| author_sort |
Comeau, Anne Marie |
| title |
Integration of New Genetic Diseases into Statewide Newborn Screening: New England Experience |
| title_short |
Integration of New Genetic Diseases into Statewide Newborn Screening: New England Experience |
| title_full |
Integration of New Genetic Diseases into Statewide Newborn Screening: New England Experience |
| title_fullStr |
Integration of New Genetic Diseases into Statewide Newborn Screening: New England Experience |
| title_full_unstemmed |
Integration of New Genetic Diseases into Statewide Newborn Screening: New England Experience |
| title_sort |
integration of new genetic diseases into statewide newborn screening: new england experience |
| publisher |
Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas |
| publishDate |
2014 |
| url |
http://repositorio.ub.edu.ar/handle/123456789/2849 |
| work_keys_str_mv |
AT comeauannemarie integrationofnewgeneticdiseasesintostatewidenewbornscreeningnewenglandexperience AT larsoncecilia integrationofnewgeneticdiseasesintostatewidenewbornscreeningnewenglandexperience AT eatonrogerb integrationofnewgeneticdiseasesintostatewidenewbornscreeningnewenglandexperience |
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Repositorios |
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