Newborn screening: Toward a uniform screening panel and system - Executive summary

Michael S. Watson; Marie Y. Mann; Michele A. Lloyd-Puryear; Piero Rinaldo; R. Rodney Howell; Jose Cordero; E. Steven Edwards; Jennifer L. Howse; Tricia Mullaley; Peter Van Dyck; William Becker; Coleen Boyle; George C. Cunningham; Michael R. DeBaun; Stephen M. Downs; Edward Goldman; Stephen I. Goodman; Fernando Guerra; W. Harry Hannon; James Hanson; Cecilia Larson; Scott McLean; Gurvaneet Randhawa; Derek Robertson; Mark Rothstein; Robert D. Steiner; Sonia Suter; Bradford Therrell; Thomas Tonniges; Wanda Yazzie; Donald Bailey; Celia I. Kaye; Alex R. Kemper; Kenneth Pass; Jennifer M. Puck; Franklin Desposito; Gary Hoffman; Kathy Stagni; Arnold Strauss; Tracy Trotter; Anne M. Willey; Harvey L. Levy; James R. Eckman; Fred Lorey; Deborah L. Marsden; Julie Miller; Danielle Laraque; Kelly R. Leight; Barbara Yawn; Edward B. Goldman; Beverly Dozier; Lynn D. Fleisher

doi:10.1542/peds.2005-2633I

Newborn screening: Toward a uniform screening panel and system - Executive summary

Michael S. Watson, Marie Y. Mann, Michele A. Lloyd-Puryear, Piero Rinaldo, R. Rodney Howell, Jose Cordero, E. Steven Edwards, Jennifer L. Howse, Tricia Mullaley, Peter Van Dyck, William Becker, Coleen Boyle, George C. Cunningham, Michael R. DeBaun, Stephen M. Downs, Edward Goldman, Stephen I. Goodman, Fernando Guerra, W. Harry Hannon, James HansonCecilia Larson, Scott McLean, Gurvaneet Randhawa, Derek Robertson, Mark Rothstein, Robert D. Steiner, Sonia Suter, Bradford Therrell, Thomas Tonniges, Wanda Yazzie, Donald Bailey, Celia I. Kaye, Alex R. Kemper, Kenneth Pass, Jennifer M. Puck, Franklin Desposito, Gary Hoffman, Kathy Stagni, Arnold Strauss, Tracy Trotter, Anne M. Willey, Harvey L. Levy, James R. Eckman, Fred Lorey, Deborah L. Marsden, Julie Miller, Danielle Laraque, Kelly R. Leight, Barbara Yawn, Edward B. Goldman, Beverly Dozier, Lynn D. Fleisher

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

175 Scopus citations

Abstract

The Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process of standardization of outcomes and guidelines for state newborn screening programs and to define responsibilities for collecting and evaluating outcome data, including a recommended uniform panel of conditions to include in state newborn screening programs. The expert panel identified 29 conditions for which screening should be mandated. An additional 25 conditions were identified because they are part of the differential diagnosis of a condition in the core panel, they are clinically significant and revealed with screening technology but lack an efficacious treatment, or they represent incidental findings for which there is potential clinical significance. The process of identification is described, and recommendations are provided.

Original language	English (US)
Pages (from-to)	S296-S307
Journal	Pediatrics
Volume	117
Issue number	5
DOIs	https://doi.org/10.1542/peds.2005-2633I
State	Published - May 2006

Keywords

Congenital
Genetics
Newborn
Panel
Public health
Screening

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1542/peds.2005-2633I

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Watson, M. S., Mann, M. Y., Lloyd-Puryear, M. A., Rinaldo, P., Howell, R. R., Cordero, J., Edwards, E. S., Howse, J. L., Mullaley, T., Van Dyck, P., Becker, W., Boyle, C., Cunningham, G. C., DeBaun, M. R., Downs, S. M., Goldman, E., Goodman, S. I., Guerra, F., Hannon, W. H., ... Fleisher, L. D. (2006). Newborn screening: Toward a uniform screening panel and system - Executive summary. Pediatrics, 117(5), S296-S307. https://doi.org/10.1542/peds.2005-2633I

Watson, MS, Mann, MY, Lloyd-Puryear, MA, Rinaldo, P, Howell, RR, Cordero, J, Edwards, ES, Howse, JL, Mullaley, T, Van Dyck, P, Becker, W, Boyle, C, Cunningham, GC, DeBaun, MR, Downs, SM, Goldman, E, Goodman, SI, Guerra, F, Hannon, WH, Hanson, J, Larson, C, McLean, S, Randhawa, G, Robertson, D, Rothstein, M, Steiner, RD, Suter, S, Therrell, B, Tonniges, T, Yazzie, W, Bailey, D, Kaye, CI, Kemper, AR, Pass, K, Puck, JM, Desposito, F, Hoffman, G, Stagni, K, Strauss, A, Trotter, T, Willey, AM, Levy, HL, Eckman, JR, Lorey, F, Marsden, DL, Miller, J, Laraque, D, Leight, KR, Yawn, B, Goldman, EB, Dozier, B & Fleisher, LD 2006, 'Newborn screening: Toward a uniform screening panel and system - Executive summary', Pediatrics, vol. 117, no. 5, pp. S296-S307. https://doi.org/10.1542/peds.2005-2633I

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abstract = "The Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process of standardization of outcomes and guidelines for state newborn screening programs and to define responsibilities for collecting and evaluating outcome data, including a recommended uniform panel of conditions to include in state newborn screening programs. The expert panel identified 29 conditions for which screening should be mandated. An additional 25 conditions were identified because they are part of the differential diagnosis of a condition in the core panel, they are clinically significant and revealed with screening technology but lack an efficacious treatment, or they represent incidental findings for which there is potential clinical significance. The process of identification is described, and recommendations are provided.",

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AU - Howell, R. Rodney

AU - Cordero, Jose

AU - Edwards, E. Steven

AU - Howse, Jennifer L.

AU - Mullaley, Tricia

AU - Van Dyck, Peter

AU - Becker, William

AU - Boyle, Coleen

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AU - Levy, Harvey L.

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Newborn screening: Toward a uniform screening panel and system - Executive summary

Abstract

Keywords

ASJC Scopus subject areas

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