Elevated IRT levels in African-American infants: Implications for newborn screening in an ethnically diverse population

Robert Giusti; P. Comber; J. Germana; A. Ting; L. Quittell; M. Berdella; C. Ren; C. Kier; R. Anbar; J. Boyer; M. Caggana

doi:10.1002/ppul.20824

Elevated IRT levels in African-American infants: Implications for newborn screening in an ethnically diverse population

Robert Giusti, P. Comber, J. Germana, A. Ting, L. Quittell, M. Berdella, C. Ren, C. Kier, R. Anbar, J. Boyer, M. Caggana

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

Abstract

During the first 4 years of newborn screening (NBS) for Cystic Fibrosis (CF) in New York there was a statistically significant, twofold greater relative risk of an Immunoreactive Trypsinogen (IRT) level greater than 95% in African-American infants. The reason for this previously reported increase in IRT level in African-American infants is unclear. The positive predictive value of a screen positive result in this population was only 0.3%. The bulk of screen-positive African-American infants were in the top 0.2% (IRT) group, with no CF mutations isolated. Repeat IRT testing at 2-3 weeks of age may represent a suitable approach to decrease the false-positive rate in this population.

Original language	English
Pages (from-to)	638-641
Number of pages	4
Journal	Pediatric Pulmonology
Volume	43
Issue number	7
DOIs	https://doi.org/10.1002/ppul.20824
State	Published - Jul 2008
Externally published	Yes

Keywords

Cystic fibrosis
Immunoreactive trypsinogen
Newborn screen

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10.1002/ppul.20824

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title = "Elevated IRT levels in African-American infants: Implications for newborn screening in an ethnically diverse population",

abstract = "During the first 4 years of newborn screening (NBS) for Cystic Fibrosis (CF) in New York there was a statistically significant, twofold greater relative risk of an Immunoreactive Trypsinogen (IRT) level greater than 95\% in African-American infants. The reason for this previously reported increase in IRT level in African-American infants is unclear. The positive predictive value of a screen positive result in this population was only 0.3\%. The bulk of screen-positive African-American infants were in the top 0.2\% (IRT) group, with no CF mutations isolated. Repeat IRT testing at 2-3 weeks of age may represent a suitable approach to decrease the false-positive rate in this population.",

keywords = "Cystic fibrosis, Immunoreactive trypsinogen, Newborn screen",

author = "Robert Giusti and P. Comber and J. Germana and A. Ting and L. Quittell and M. Berdella and C. Ren and C. Kier and R. Anbar and J. Boyer and M. Caggana",

year = "2008",

month = jul,

doi = "10.1002/ppul.20824",

language = "English",

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journal = "Pediatric Pulmonology",

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TY - JOUR

T1 - Elevated IRT levels in African-American infants

T2 - Implications for newborn screening in an ethnically diverse population

AU - Giusti, Robert

AU - Comber, P.

AU - Germana, J.

AU - Ting, A.

AU - Quittell, L.

AU - Berdella, M.

AU - Ren, C.

AU - Kier, C.

AU - Anbar, R.

AU - Boyer, J.

AU - Caggana, M.

PY - 2008/7

Y1 - 2008/7

N2 - During the first 4 years of newborn screening (NBS) for Cystic Fibrosis (CF) in New York there was a statistically significant, twofold greater relative risk of an Immunoreactive Trypsinogen (IRT) level greater than 95% in African-American infants. The reason for this previously reported increase in IRT level in African-American infants is unclear. The positive predictive value of a screen positive result in this population was only 0.3%. The bulk of screen-positive African-American infants were in the top 0.2% (IRT) group, with no CF mutations isolated. Repeat IRT testing at 2-3 weeks of age may represent a suitable approach to decrease the false-positive rate in this population.

AB - During the first 4 years of newborn screening (NBS) for Cystic Fibrosis (CF) in New York there was a statistically significant, twofold greater relative risk of an Immunoreactive Trypsinogen (IRT) level greater than 95% in African-American infants. The reason for this previously reported increase in IRT level in African-American infants is unclear. The positive predictive value of a screen positive result in this population was only 0.3%. The bulk of screen-positive African-American infants were in the top 0.2% (IRT) group, with no CF mutations isolated. Repeat IRT testing at 2-3 weeks of age may represent a suitable approach to decrease the false-positive rate in this population.

KW - Cystic fibrosis

KW - Immunoreactive trypsinogen

KW - Newborn screen

UR - https://www.scopus.com/pages/publications/46849086377

U2 - 10.1002/ppul.20824

DO - 10.1002/ppul.20824

M3 - Article

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AN - SCOPUS:46849086377

SN - 8755-6863

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SP - 638

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JO - Pediatric Pulmonology

JF - Pediatric Pulmonology

IS - 7

ER -

Elevated IRT levels in African-American infants: Implications for newborn screening in an ethnically diverse population

Abstract

Keywords

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