186 results on '"Caggana M"'
Search Results
2. 151 Variable genetic counseling access and services for parents of infants who screen positive for cystic fibrosis in New York State
- Author
-
Langfelder-Schwind, E., primary, Kay, D., additional, Berdella, M., additional, Joan, D., additional, Soultan, Z., additional, Dozor, A., additional, Fortner, C., additional, Giusti, R., additional, Goetz, D., additional, Kaslovsky, R., additional, Voter, K., additional, Welter, J., additional, Caggana, M., additional, Sadeghi, H., additional, and Kier, C., additional
- Published
- 2022
- Full Text
- View/download PDF
3. 32 Characteristics of 225 infants with cystic fibrosis screen positive, inconclusive diagnosis and cystic fibrosis transmembrane conductance regulator–related metabolic syndrome identified in New York State over a 3-year period
- Author
-
Kier, C., primary, Sadeghi, H., additional, Kay, D., additional, Langfelder-Schwind, E., additional, Berdella, M., additional, Joan, D., additional, Soultan, Z., additional, Caggana, M., additional, Dozor, A., additional, Fortner, C., additional, Giusti, R., additional, Goetz, D., additional, Kaslovsky, R., additional, Stevens, C., additional, Voter, K., additional, and Welter, J., additional
- Published
- 2022
- Full Text
- View/download PDF
4. EPS7.03 Variability in evaluation and follow-up of newborns with CFSPID/CRMS In New York State Cystic Fibrosis Specialty Care Centres
- Author
-
Sadeghi, H., Kier, C., Kay, D., Langfelder-Schwind, E., Berdella, M., DeCelie-Germana, J., Soultan, Z., Goetz, D., Caggana, M., Dozor, A., Fortner, C., Giusti, R., Kaslovsky, R., Stevens, C., Voter, K., and Welter, J.
- Published
- 2023
- Full Text
- View/download PDF
5. A COMPARATIVE ANALYSIS OF NEW YORK STATE CF NEWBORN SCREENING MUTATION PANEL AND CFF REGISTRY DATA: 440
- Author
-
Langfelder-Schwind, E., Kay, D., Caggana, M., Kier, C., and New York State, C.
- Published
- 2012
6. IMPROVING THE POSITIVE PREDICTIVE VALUE OF THE VERY HIGH IRT NO MUTATION REFERRALS IN THE NEW YORK STATE CYSTIC FIBROSIS NEWBORN SCREENING PROGRAM: ONE YEAR POSTALGORITHM CHANGE: 421★
- Author
-
Kier, C., Langfelder-Schwind, E., Kay, D. M., DeCelie-Germana, J., and Caggana, M.
- Published
- 2012
7. THE DILEMMA OF THE VERY-HIGH IRT, SCREENPOSITIVE INFANTS IN IRT/DNA CF NEWBORN SCREENING PROGRAMS: THE NEW YORK STATE EXPERIENCE: 552⋆
- Author
-
Sharp, J. K., Langfelder-Schwind, E., Giusti, R., Rodriguez, D. A., Caggana, M., and For, T.
- Published
- 2008
8. Genetic mapping of the determinants of plaque morphology of coxsackievirus B4
- Author
-
Ramsingh, A. I., Caggana, M., and Ronstrom, S.
- Published
- 1995
- Full Text
- View/download PDF
9. The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects
- Author
-
Fitzgerald, T, Duva, S, Ostrer, H, Pass, K, Oddoux, C, Ruben, R, and Caggana, M
- Published
- 2004
10. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
- Author
-
Mchugh, Dm, Cameron, Ca, Abdenur, Je, Abdulrahman, M., Adair, O., Al Nuaimi SA, Åhlman, H., Allen, Jj, Antonozzi, I., Archer, S., Au, S., Auray Blais, C., Baker, M., Bamforth, F., Beckmann, K., Pino, Gb, Berberich, Sl, Binard, R., Boemer, F., Bonham, J., Breen, Nn, Bryant, Sc, Caggana, M., Caldwell, Sg, Camilot, M., Campbell, C., Carducci, C., Cariappa, R., Carlisle, C., Caruso, U., Cassanello, M., Castilla, Am, Ramos, De, Chakraborty, P., Chandrasekar, R., Ramos, Ac, Cheillan, D., Chien, Yh, Childs, Ta, Chrastina, P., Sica, Yc, de Juan JA, Colandre, Me, Espinoza, Vc, Corso, G., Currier, R., Cyr, D., Czuczy, N., D Apolito, O., Davis, T., de Sain Van der Velden MG, Delgado Pecellin, C., Di Gangi IM, Di Stefano CM, Dotsikas, Y., Downing, M., Downs, Sm, Dy, B., Dymerski, M., Rueda, I., Elvers, B., Eaton, R., Eckerd, Bm, El Mougy, F., Eroh, S., Espada, M., Evans, C., Fawbush, S., Fijolek, Kf, Fisher, L., Franzson, L., Frazier, Dm, Garcia, Lr, Bermejo, Ms, Gavrilov, D., Gerace, R., Giordano, G., Irazabal, Yg, Greed, Lc, Grier, R., Grycki, E., Gu, X., Gulamali Majid, F., Hagar, Af, Han, L., Hannon, Wh, Haslip, C., Hassan, Fa, He, M., Hietala, A., Himstedt, L., Hoffman, Gl, Hoffman, W., Hoggatt, P., Hopkins, Pv, Hougaard, Dm, Hughes, K., Hunt, Pr, Hwu, Wl, Hynes, J., Ibarra González, I., Ingham, Ca, Ivanova, M., Jacox, Wb, John, C., Johnson, Jp, Jónsson, Jj, Karg, E., Kasper, D., Klopper, B., Katakouzinos, D., Khneisser, I., Knoll, D., Kobayashi, H., Koneski, R., Kozich, V., Kouapei, R., Kohlmueller, D., Kremensky, I., giancarlo la marca, Lavochkin, M., Lee, Sy, Lehotay, Dc, Lemes, A., Lepage, J., Lesko, B., Lewis, B., Lim, C., Linard, S., Lindner, M., Lloyd Puryear MA, Lorey, F., Loukas, Yl, Luedtke, J., Maffitt, N., Magee, Jf, Manning, A., Manos, S., Marie, S., Hadachi, Sm, Marquardt, G., Martin, Sj, Matern, D., Mayfield Gibson SK, Mayne, P., Mccallister, Td, Mccann, M., Mcclure, J., Mcgill, Jj, Mckeever, Cd, Mcneilly, B., Morrissey, Ma, Moutsatsou, P., Mulcahy, Ea, Nikoloudis, D., Norgaard Pedersen, B., Oglesbee, D., Oltarzewski, M., Ombrone, D., Ojodu, J., Papakonstantinou, V., Reoyo, Sp, Park, Hd, Pasquali, M., Pasquini, E., Patel, P., Pass, Ka, Peterson, C., Pettersen, Rd, Pitt, Jj, Poh, S., Pollak, A., Porter, C., Poston, Pa, Price, Rw, Queijo, C., Quesada, J., Randell, E., Ranieri, E., Raymond, K., Reddic, Je, Reuben, A., Ricciardi, C., Rinaldo, P., Rivera, Jd, Roberts, A., Rocha, H., Roche, G., Greenberg, Cr, Mellado, Jm, Juan Fita MJ, Ruiz, C., Ruoppolo, M., Rutledge, Sl, Ryu, E., Saban, C., Sahai, I., García Blanco MI, Santiago Borrero, P., Schenone, A., Schoos, R., Schweitzer, B., Scott, P., Seashore, Mr, Seeterlin, Ma, Sesser, De, Sevier, Dw, Shone, Sm, Sinclair, G., Skrinska, Va, Stanley, El, Strovel, Et, Jones, Al, Sunny, S., Takats, Z., Tanyalcin, T., Teofoli, F., Thompson, Jr, Tomashitis, K., Domingos, Mt, Torres, J., Torres, R., Tortorelli, S., Turi, S., Turner, K., Tzanakos, N., Valiente, Ag, Vallance, H., Vela Amieva, M., Vilarinho, L., Döbeln, U., Vincent, Mf, Vorster, Bc, Watson, Ms, Webster, D., Weiss, S., Wilcken, B., Wiley, V., Williams, Sk, Willis, Sa, Woontner, M., Wright, K., Yahyaoui, R., Yamaguchi, S., Yssel, M., Zakowicz, W. M., Mchugh, D, Cameron, Ca, Abdenur, Je, Abdulrahman, M, Adair, O, Al Nuaimi, Sa, Åhlman, H, Allen, Jj, Antonozzi, I, Archer, S, Au, S, Auray Blais, C, Baker, M, Bamforth, F, Beckmann, K, Pino, Gb, Berberich, Sl, Binard, R, Boemer, F, Bonham, J, Breen, Nn, Bryant, Sc, Caggana, M, Caldwell, Sg, Camilot, M, Campbell, C, Carducci, C, Cariappa, R, Carlisle, C, Caruso, U, Cassanello, M, Castilla, Am, Ramos, De, Chakraborty, P, Chandrasekar, R, Ramos, Ac, Cheillan, D, Chien, Yh, Childs, Ta, Chrastina, P, Sica, Yc, de Juan, Ja, Colandre, Me, Espinoza, Vc, Corso, G, Currier, R, Cyr, D, Czuczy, N, D'Apolito, O, Davis, T, de Sain Van der Velden, Mg, Delgado Pecellin, C, Di Gangi, Im, Di Stefano, Cm, Dotsikas, Y, Downing, M, Downs, Sm, Dy, B, Dymerski, M, Rueda, I, Elvers, B, Eaton, R, Eckerd, Bm, El Mougy, F, Eroh, S, Espada, M, Evans, C, Fawbush, S, Fijolek, Kf, Fisher, L, Franzson, L, Frazier, Dm, Garcia, Lr, Bermejo, M, Gavrilov, D, Gerace, R, Giordano, G, Irazabal, Yg, Greed, Lc, Grier, R, Grycki, E, Gu, X, Gulamali Majid, F, Hagar, Af, Han, L, Hannon, Wh, Haslip, C, Hassan, Fa, He, M, Hietala, A, Himstedt, L, Hoffman, Gl, Hoffman, W, Hoggatt, P, Hopkins, Pv, Hougaard, Dm, Hughes, K, Hunt, Pr, Hwu, Wl, Hynes, J, Ibarra González, I, Ingham, Ca, Ivanova, M, Jacox, Wb, John, C, Johnson, Jp, Jónsson, Jj, Karg, E, Kasper, D, Klopper, B, Katakouzinos, D, Khneisser, I, Knoll, D, Kobayashi, H, Koneski, R, Kozich, V, Kouapei, R, Kohlmueller, D, Kremensky, I, la Marca, G, Lavochkin, M, Lee, Sy, Lehotay, Dc, Lemes, A, Lepage, J, Lesko, B, Lewis, B, Lim, C, Linard, S, Lindner, M, Lloyd Puryear, Ma, Lorey, F, Loukas, Yl, Luedtke, J, Maffitt, N, Magee, Jf, Manning, A, Manos, S, Marie, S, Hadachi, Sm, Marquardt, G, Martin, Sj, Matern, D, Mayfield Gibson, Sk, Mayne, P, Mccallister, Td, Mccann, M, Mcclure, J, Mcgill, Jj, Mckeever, Cd, Mcneilly, B, Morrissey, Ma, Moutsatsou, P, Mulcahy, Ea, Nikoloudis, D, Norgaard Pedersen, B, Oglesbee, D, Oltarzewski, M, Ombrone, D, Ojodu, J, Papakonstantinou, V, Reoyo, Sp, Park, Hd, Pasquali, M, Pasquini, E, Patel, P, Pass, Ka, Peterson, C, Pettersen, Rd, Pitt, Jj, Poh, S, Pollak, A, Porter, C, Poston, Pa, Price, Rw, Queijo, C, Quesada, J, Randell, E, Ranieri, E, Raymond, K, Reddic, Je, Reuben, A, Ricciardi, C, Rinaldo, P, Rivera, Jd, Roberts, A, Rocha, H, Roche, G, Greenberg, Cr, Mellado, Jm, Juan Fita, Mj, Ruiz, C, Ruoppolo, Margherita, Rutledge, Sl, Ryu, E, Saban, C, Sahai, I, García Blanco, Mi, Santiago Borrero, P, Schenone, A, Schoos, R, Schweitzer, B, Scott, P, Seashore, Mr, Seeterlin, Ma, Sesser, De, Sevier, Dw, Shone, Sm, Sinclair, G, Skrinska, Va, Stanley, El, Strovel, Et, Jones, Al, Sunny, S, Takats, Z, Tanyalcin, T, Teofoli, F, Thompson, Jr, Tomashitis, K, Domingos, Mt, Torres, J, Torres, R, Tortorelli, S, Turi, S, Turner, K, Tzanakos, N, Valiente, Ag, Vallance, H, Vela Amieva, M, Vilarinho, L, von Döbeln, U, Vincent, Mf, Vorster, Bc, Watson, M, Webster, D, Weiss, S, Wilcken, B, Wiley, V, Williams, Sk, Willis, Sa, Woontner, M, Wright, K, Yahyaoui, R, Yamaguchi, S, Yssel, M, and Zakowicz, W. M.
- Subjects
Analyte ,Percentile ,Pediatrics ,medicine.medical_specialty ,International Cooperation ,tandem mass spectrometry ,amino acids ,newborn screening ,inborn errors of metabolism ,acylcarnitines ,Tandem mass spectrometry ,Sensitivity and Specificity ,Neonatal Screening ,Metabolic Diseases ,Reference Values ,Carnitine ,Range (statistics) ,Humans ,Medicine ,Cutoff ,Clinical significance ,Genetics (clinical) ,mass spectrometry ,Newborn screening ,business.industry ,Infant, Newborn ,Biochemistry ,False positive rate ,business ,Software ,metabolic disorders, newborn screening - Abstract
Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass 215 spectrometry through a worldwide collaboration. Methods: Cumulative percentiles of amino 216 acids and acylcarnitines in dried blood spots of approximately 30 million normal newborns and 217 10,615 true positive cases are compared to assign clinical significance, which is achieved when 218 the median of a disease range is either >99%ile or
- Published
- 2011
11. An effective pooling strategy for feasible newborn screening of GBJ-2 gene mutations
- Author
-
Caggana, M., Duva, S., Ostrer, H., Oddoux, C., Ruben, R., and Pass, K.
- Subjects
Human genetics -- Research ,Genetic disorders -- Diagnosis ,Infants -- Genetic aspects ,Deafness -- Genetic aspects ,Biological sciences - Published
- 2001
12. Characterization of [Beta]-globin haplotypes among an admixed, population-based cohort of newborns with sickle cell disease
- Author
-
Crawford, D.C., Caggana, M., Tempelis, C., Harris, K.B., Lorey, F., Nash, C., Pass, K., and Olney, R.
- Subjects
Human genetics -- Research ,Globin genes -- Research ,Haplotypes -- Genetic aspects ,Infants (Newborn) -- Genetic aspects ,Sickle cell anemia -- Genetic aspects ,Biological sciences - Published
- 2001
13. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
- Author
-
Kwan, A, Abraham, RS, Currier, R, Brower, A, Andruszewski, K, Abbott, JK, Baker, M, Ballow, M, Bartoshesky, LE, Bonilla, FA, Brokopp, C, Brooks, E, Caggana, M, Celestin, J, Church, JA, Comeau, AM, Connelly, JA, Cowan, MJ, Cunningham-Rundles, C, Dasu, T, Dave, N, De La Morena, MT, Duffner, U, Fong, CT, Forbes, L, Freedenberg, D, Gelfand, EW, Hale, JE, Hanson, IC, Hay, BN, Hu, D, Infante, A, Johnson, D, Kapoor, N, Kay, DM, Kohn, DB, Lee, R, Lehman, H, Lin, Z, Lorey, F, Abdel-Mageed, A, Manning, A, McGhee, S, Moore, TB, Naides, SJ, Notarangelo, LD, Orange, JS, Pai, SY, Porteus, M, Rodriguez, R, Romberg, N, Routes, J, Ruehle, M, Rubenstein, A, Saavedra-Matiz, CA, Scott, G, Scott, PM, Secord, E, Seroogy, C, Shearer, WT, Siegel, S, Silvers, SK, Stiehm, ER, Sugerman, RW, Sullivan, JL, Tanksley, S, Tierce, ML, Verbsky, J, Vogel, B, Walker, R, Walkovich, K, Walter, JE, Wasserman, RL, Watson, MS, Weinberg, GA, Weiner, LB, Wood, H, Yates, AB, and Puck, JM
- Abstract
Importance: Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100 000 births. Objectives: To present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia and document early institution of effective treatments. DESIGN Epidemiological and retrospective observational study. Setting: Representatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3 030 083 newborns screened with a TREC test. Main Outcomes and Measures: Infants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked. Results: Screening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58 000 infants (95%CI, 1/46 000-1/80 000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87%(45/52), 92%(45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in definitions and follow-up practices influenced the rates of detection of non-SCID T-cell lymphopenia. Conclusions and Relevance: Newborn screening in 11 programs in the United States identified SCID in 1 in 58 000 infants, with high survival. The usefulness of detection of non-SCID T-cell lymphopenias by the same screening remains to be determined. Copyright © 2014 American Medical Association. All rights reserved.
- Published
- 2014
14. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
- Author
-
McHugh, D.M.S. Cameron, C.A. Abdenur, J.E. Abdulrahman, M. Adair, O. Al Nuaimi, S.A. Åhlman, H. Allen, J.J. Antonozzi, I. Archer, S. Au, S. Auray-Blais, C. Baker, M. Bamforth, F. Beckmann, K. Pino, G.B. Berberich, S.L. Binard, R. Boemer, F. Bonham, J. Breen, N.N. Bryant, S.C. Caggana, M. Caldwell, S.G. Camilot, M. Campbell, C. Carducci, C. Cariappa, R. Carlisle, C. Caruso, U. Cassanello, M. Castilla, A.M. Ramos, D.E.C. Chakraborty, P. Chandrasekar, R. Ramos, A.C. Cheillan, D. Chien, Y.-H. Childs, T.A. Chrastina, P. Sica, Y.C. Cocho De Juan, J.A. Colandre, M.E. Espinoza, V.C. Corso, G. Currier, R. Cyr, D. Czuczy, N. D'Apolito, O. Davis, T. De Sain-Van Der Velden, M.G. Pecellin, C.D. Di Gangi, I.M. Di Stefano, C.M. Dotsikas, Y. Downing, M. Downs, S.M. Dy, B. Dymerski, M. Rueda, I. Elvers, B. Eaton, R. Eckerd, B.M. El Mougy, F. Eroh, S. Espada, M. Evans, C. Fawbush, S. Fijolek, K.F. Fisher, L. Franzson, L. Frazier, D.M. Garcia, L.R.C. Bermejo, M.S.G.-V. Gavrilov, D. Gerace, R. Giordano, G. Irazabal, Y.G. Greed, L.C. Grier, R. Grycki, E. Gu, X. Gulamali-Majid, F. Hagar, A.F. Han, L. Hannon, W.H. Haslip, C. Hassan, F.A. He, M. Hietala, A. Himstedt, L. Hoffman, G.L. Hoffman, W. Hoggatt, P. Hopkins, P.V. Hougaard, D.M. Hughes, K. Hunt, P.R. Hwu, W.-L. Hynes, J. Ibarra-González, I. Ingham, C.A. Ivanova, M. Jacox, W.B. John, C. Johnson, J.P. Jónsson, J.J. Karg, E. Kasper, D. Klopper, B. Katakouzinos, D. Khneisser, I. Knoll, D. Kobayashi, H. Koneski, R. Kožich, V. Kouapei, R. Kohlmueller, D. Kremensky, I. La Marca, G. Lavochkin, M. Lee, S.-Y. Lehotay, D.C. Lemes, A. Lepage, J. Lesko, B. Lewis, B. Lim, C. Linard, S. Lindner, M. Lloyd-Puryear, M.A. Lorey, F. Loukas, Y.L. Luedtke, J. Maffitt, N. Magee, J.F. Manning, A. Manos, S. Marie, S. Hadachi, S.M. Marquardt, G. Martin, S.J. Matern, D. Gibson, S.K.M. Mayne, P. McCallister, T.D. McCann, M. McClure, J. McGill, J.J. McKeever, C.D. McNeilly, B. Morrissey, M.A. Moutsatsou, P. Mulcahy, E.A. Nikoloudis, D. Norgaard-Pedersen, B. Oglesbee, D. Oltarzewski, M. Ombrone, D. Ojodu, J. Papakonstantinou, V. Reoyo, S.P. Park, H.-D. Pasquali, M. Pasquini, E. Patel, P. Pass, K.A. Peterson, C. Pettersen, R.D. Pitt, J.J. Poh, S. Pollak, A. Porter, C. Poston, P.A. Price, R.W. Queijo, C. Quesada, J. Randell, E. Ranieri, E. Raymond, K. Reddic, J.E. Reuben, A. Ricciardi, C. Rinaldo, P. Rivera, J.D. Roberts, A. Rocha, H. Roche, G. Greenberg, C.R. Mellado, J.M.E. Juan-Fita, M.J. Ruiz, C. Ruoppolo, M. Rutledge, S.L. Ryu, E. Saban, C. Sahai, I. García-Blanco, M.I.S. Santiago-Borrero, P. Schenone, A. Schoos, R. Schweitzer, B. Scott, P. Seashore, M.R. Seeterlin, M.A. Sesser, D.E. Sevier, D.W. Shone, S.M. Sinclair, G. Skrinska, V.A. Stanley, E.L. Strovel, E.T. Jones, A.L.S. Sunny, S. Takats, Z. Tanyalcin, T. Teofoli, F. Thompson, J.R. Tomashitis, K. Domingos, M.T. Torres, J. Torres, R. Tortorelli, S. Turi, S. Turner, K. Tzanakos, N. Valiente, A.G. Vallance, H. Vela-Amieva, M. Vilarinho, L. Von Döbeln, U. Vincent, M.-F. Vorster, B.C. Watson, M.S. Webster, D. Weiss, S. Wilcken, B. Wiley, V. Williams, S.K. Willis, S.A. Woontner, M. Wright, K. Yahyaoui, R. Yamaguchi, S. Yssel, M. Zakowicz, W.M.
- Abstract
PURPOSE:: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS:: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS:: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION:: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders. © 2011 Lippincott Williams & Wilkins.
- Published
- 2011
15. Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines
- Author
-
Vogel, B.H., primary, Bradley, S.E., additional, Adams, D.J., additional, D'Aco, K., additional, Erbe, R.W., additional, Fong, C., additional, Iglesias, A., additional, Kronn, D., additional, Levy, P., additional, Morrissey, M., additional, Orsini, J., additional, Parton, P., additional, Pellegrino, J., additional, Saavedra-Matiz, C.A., additional, Shur, N., additional, Wasserstein, M., additional, Raymond, G.V., additional, and Caggana, M., additional
- Published
- 2015
- Full Text
- View/download PDF
16. Evolution of an influenza pandemic in 13 countries from 5 continents monitored by protein microarray from neonatal screening bloodspots
- Author
-
de Bruin, E., primary, Loeber, J.G., additional, Meijer, A., additional, Castillo, G. Martinez, additional, Cepeda, M.L. Granados, additional, Torres-Sepúlveda, M. Rosario, additional, Borrajo, G.J.C., additional, Caggana, M., additional, Giguere, Y., additional, Meyer, M., additional, Fukushi, M., additional, Devi, A.R. Rama, additional, Khneisser, I., additional, Vilarinho, L., additional, von Döbeln, U., additional, Torresani, T., additional, Mackenzie, J., additional, Zutt, I., additional, Schipper, M., additional, Elvers, L.H., additional, and Koopmans, M.P.G., additional
- Published
- 2014
- Full Text
- View/download PDF
17. Simultaneous Detection of TRECs and KRECs in Newborn DNA Isolated From Dried Blood Spots (Guthrie Cards)
- Author
-
Bonagura, V.R., primary, DeVoti, J., additional, Massaro, L., additional, Sharif, N., additional, Isabelle, J., additional, and Caggana, M., additional
- Published
- 2012
- Full Text
- View/download PDF
18. Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards
- Author
-
Puckett, R.L., primary, Orsini, J.J., additional, Pastores, G.M., additional, Wang, R.Y., additional, Chang, R., additional, Saavedra-Matiz, C.A., additional, Torres, P.A., additional, Zeng, B., additional, Caggana, M., additional, Lorey, F., additional, and Abdenur, J.E., additional
- Published
- 2012
- Full Text
- View/download PDF
19. Newborn screening for Tyr-I: Two years' experience of the New York State program
- Author
-
Morrissey, M.A., primary, Sunny, S., additional, Fahim, A., additional, Lubowski, C., additional, and Caggana, M., additional
- Published
- 2011
- Full Text
- View/download PDF
20. The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests
- Author
-
Adam, B.W., primary, Orsini, J.J., additional, Martin, M., additional, Hall, E.M., additional, Zobel, S.D., additional, Caggana, M., additional, and Hannon, W.H., additional
- Published
- 2011
- Full Text
- View/download PDF
21. Analysis of Cellulose Acetate Membranes for Lab-on-a-Chip Applications
- Author
-
Mohamed, H, primary, Szarowski, D H, additional, Spencer, M G, additional, Martin, D L, additional, Caggana, M, additional, and Turner, J N, additional
- Published
- 2005
- Full Text
- View/download PDF
22. Development of a Rare Cell Fractionation Device: Application for Cancer Detection
- Author
-
Mohamed, H., primary, McCurdy, L.D., additional, Szarowski, D.H., additional, Duva, S., additional, Turner, J.N., additional, and Caggana, M., additional
- Published
- 2004
- Full Text
- View/download PDF
23. Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach
- Author
-
OLIVAREZ, L., primary, CAGGANA, M., additional, PASS, K. A., additional, FERGUSON, P., additional, and BREWER, G. J., additional
- Published
- 2001
- Full Text
- View/download PDF
24. Mutagenesis after cancer therapy.
- Author
-
Kelsey, K T, primary, Caggana, M, additional, Mauch, P M, additional, Coleman, C N, additional, Clark, J R, additional, and Liber, H L, additional
- Published
- 1993
- Full Text
- View/download PDF
25. Identification of a single amino acid residue in the capsid protein VP1 of coxsackievirus B4 that determines the virulent phenotype
- Author
-
Caggana, M, primary, Chan, P, additional, and Ramsingh, A, additional
- Published
- 1993
- Full Text
- View/download PDF
26. Progress in prevention of mother-to-child transmission of HIV in New York State: 1988-2008.
- Author
-
Birkhead GS, Pulver WP, Warren BL, Klein SJ, Parker MM, Caggana M, and Smith LC
- Published
- 2010
- Full Text
- View/download PDF
27. In vivo exposure of human lymphocytes to technetium-99m in nuclear medicine patients does not induce deteetable genetic effects
- Author
-
Kelsey, K.T., primary, Donohoe, K.J., additional, Memisoglu, A., additional, Baxter, B., additional, Caggana, M., additional, and Liber, H.L., additional
- Published
- 1991
- Full Text
- View/download PDF
28. Short Report The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects.
- Author
-
Fitzgerald, T., Duva, S., Ostrer, H., Pass, K., Oddoux, C., Ruben, R., and Caggana, M.
- Subjects
DEAFNESS in children ,GENETIC mutation ,GENETIC disorders in children ,OLIGONUCLEOTIDES ,GENES ,BLOOD testing - Abstract
Fitzgerald T, Duva S, Ostrer H, Pass K, Oddoux C, Ruben R, Caggana M. The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects. In the US, approximately one in every 1000 children has hearing loss sufficiently severe to interfere with the acquisition of normal speech [Ann NY Acad Sci 630 (1991) 16]. The causes of non-syndromic hearing loss (NSHL) are known to be heterogeneous, with genetic factors accounting for 50–75%[Am J Med Genet 46 (1993) 486]. Often individuals with NSHL thought to be caused by mutations in GJB2 have only one detectable mutant allele [Am J Hum Genet 62 (1998) 792, Hum Mol Genet 6 (12) (1997) 2173]. Another gene that has been identified as a possible cause of NSHL is GJB6 that codes for the gap junction protein, connexin 30. A consecutive series of anonymous newborn dried blood specimens ( n = 2089) was tested for two GJB2 mutations: (i) 35delG, a pan-ethnic mutation; and (ii) 167delT, a mutation more frequently found in individuals of Ashkenazi Jewish and Mediterranean descents. Mutation detection was validated using allele-specific oligonucleotide hybridization in single wells. Once the positive samples had been identified, the samples were pooled and retested. All positives in the individual experiment were correctly identified in the pooled experiment. The same random set of anonymous newborn dried blood specimens plus some additional samples were tested ( n = 2112) for the 342-kb deletion in the GJB6 gene. [ABSTRACT FROM AUTHOR]
- Published
- 2004
- Full Text
- View/download PDF
29. The Allele Frequency of Mutations in Four Genes that Confer Enhanced Susceptibility to Venous Thromboembolism in an Unselected Group of New York State Newborns
- Author
-
Conroy, J. M., Trivedi, G., Sovd, T., and Caggana, M.
- Published
- 2000
- Full Text
- View/download PDF
30. Newborn screening: on-chip analysis of inborn errors of metabolism.
- Author
-
Turner JN, Caggana M, Mohamed H, and Pass K
- Published
- 2007
31. In vivo exposure of human lymphocytes to technetium-99 m in nuclear medicine patients does not induce deteetable genetic effects
- Author
-
Kelsey, K.T., Donohoe, K.J., Memisoglu, A., Baxter, B., Caggana, M., and Liber, H.L.
- Published
- 1991
- Full Text
- View/download PDF
32. Mutagenesis after cancer therapy
- Author
-
Clark, J. R., Kelsey, K. T., Mauch, P. M., Caggana, M., Coleman, C. N., and Liber, H. L.
- Subjects
- *
CANCER treatment , *HUMAN beings , *MUTAGENESIS - Published
- 1993
33. Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
- Author
-
Kay DM, Sadeghi H, Kier C, Berdella M, DeCelie-Germana JK, Soultan ZN, Goetz DM, Caggana M, Fortner CN, Giusti R, Kaslovsky R, Stevens C, Voter K, Welter JJ, and Langfelder-Schwind E
- Subjects
- Humans, New York, Infant, Newborn, Male, Female, Phenotype, Health Services Accessibility statistics & numerical data, Infant, Cystic Fibrosis Transmembrane Conductance Regulator genetics, Cystic Fibrosis genetics, Genetic Counseling, Neonatal Screening methods, Parents, Genotype
- Abstract
Background: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with >1 CFTR variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis (CF) Specialty Care Centers (SCCs)., Aims: As part of ongoing quality improvement efforts, demographic, screening, diagnostic, and clinical data were evaluated for 289 CFNBS-positive infants identified in NYS between December 2017 and November 2020 who did not meet diagnostic criteria for CF and were classified as either: CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID) or CF carriers., Results: Overall, 194/289 (67.1%) had CFTR phasing to confirm whether the infant's CFTR variants were in cis or in trans. Eighteen complex alleles were identified in cis; known haplotypes (p.R117H+5T, p.F508del+p.L467F, and p.R74W+p.D1270N) were the most common identified. Thirty-two infants (16.5%) with all variants in cis were reclassified as CF carriers rather than CRMS/CFSPID. Among 263 infants evaluated at an NYS SCC, 70.3% were reported as having received genetic counseling about their results by any provider, with 96/263 (36.5%) counseled by a certified genetic counselor., Conclusion: Given the particularly complex genetic interpretation of results generated by CFNBS algorithms including sequencing analysis, additional efforts are needed to ensure families of infants with a positive CFNBS result have CFTR phasing when needed to distinguish carriers from infants with CRMS/CFSPID, and access to genetic counseling to address implications of CFNBS results., (© 2024 Wiley Periodicals LLC.)
- Published
- 2024
- Full Text
- View/download PDF
34. Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening.
- Author
-
Kellar-Guenther Y, Barringer L, Raboin K, Nichols G, Chou KYF, Nguyen K, Burke AR, Fawbush S, Meyer JB, Dorsey M, Brower A, Chan K, Lietsch M, Taylor J, Caggana M, and Sontag MK
- Abstract
Newborn screening (NBS) is hailed as a public health success, but little is known about the long-term outcomes following a positive newborn screen. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort. Six programs developed and tested a core set of minimal LTFU data elements. After an iterative data collection process and the development of a data collection tool, the group agreed on the minimal LTFU data elements. The denominator captured all infants with an NBS diagnosis, accounting for children who moved or died prior to the follow-up year. They also agreed on three LTFU outcomes: if the child was still alive, had contact with a specialist, and received appropriate care specific to their diagnosis within the year. The six programs representing NBS public health programs, clinical providers, and research programs provided data across multiple NBS disorders. In 2022, 83.8% (563/672) of the children identified by the LTFU programs were alive and living in the jurisdiction; of those, 92.0% (518/563) saw a specialist, and 87.7% (494/563) received appropriate care. The core LTFU data elements can be applied as a foundation to address the impact of early diagnosis by NBS within and across jurisdictions.
- Published
- 2024
- Full Text
- View/download PDF
35. Variability in evaluation and follow-up of newborns with CRMS/CFSPID in New York State.
- Author
-
Kier C, Kay DM, Langfelder-Schwind E, Goetz DM, Berdella M, DeCelie-Germana JK, Soultan ZN, Caggana M, Fortner CN, Giusti R, Kaslovsky R, Voter K, Welter JJ, and Sadeghi H
- Subjects
- Humans, Infant, Newborn, New York, Follow-Up Studies, Female, Male, Congenital Bone Marrow Failure Syndromes
- Published
- 2024
- Full Text
- View/download PDF
36. ScreenPlus: A comprehensive, multi-disorder newborn screening program.
- Author
-
Kelly NR, Orsini JJ, Goldenberg AJ, Mulrooney NS, Boychuk NA, Clarke MJ, Paleologos K, Martin MM, McNeight H, Caggana M, Bailey SM, Eiland LR, Ganesh J, Kupchik G, Lumba R, Nafday S, Stroustrup A, Gelb MH, and Wasserstein MP
- Abstract
The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. Pilot newborn screening (NBS) studies are a way to gather objective evidence about the feasibility and utility of screening, the accuracy of screening assays, and the incidence of disease. They are also an optimal way to evaluate the complex ethical, legal and social implications (ELSI) that accompany NBS expansion for disorders. ScreenPlus is a consented pilot NBS program that aims to enroll over 100,000 infants across New York City. The initial ScreenPlus panel includes 14 disorders and uses an analyte-based, multi-tiered screening platform in an effort to enhance screening accuracy. Infants who receive an abnormal result are referred to a ScreenPlus provider for confirmatory testing, management, and therapy as needed, along with longitudinal capture of outcome data. Participation in ScreenPlus requires parental consent, which is obtained in active and passive manners. Patient-facing documents are translated into the ten most common languages spoken at our nine pilot hospitals, all of which serve diverse communities. At the time of consent, parents are invited to receive a series of online surveys to capture their opinions about specific ELSI-related topics, such as NBS policy, residual dried blood spot retention, and the types of disorders that should be on NBS panels. ScreenPlus has developed a stakeholder-based, collective funding model that includes federal support in addition to funding from 14 advocacy and industry sponsors, all of which have a particular interest in NBS for at least one of the ScreenPlus disorders. Taken together, ScreenPlus is a model, multi-sponsored pilot NBS program that will provide critical data about NBS for a broad panel of disorders, while gathering key stakeholder opinions to help guide ethically sensitive decision-making about NBS expansion., Competing Interests: MW has received consulting and speaker fees from Sanofi Genzyme, Takeda, and Orchard Therapeutics., (© 2023 The Authors. Published by Elsevier Inc.)
- Published
- 2023
- Full Text
- View/download PDF
37. Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
- Author
-
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, and Rehder C
- Subjects
- Infant, Newborn, Humans, United States, Genetic Testing methods, Genome, Human, Genomics methods, Genetic Variation, Glycogen Storage Disease Type II diagnosis, Glycogen Storage Disease Type II genetics
- Abstract
Accurate determination of the clinical significance of genetic variants is critical to the integration of genomics in medicine. To facilitate this process, the NIH-funded Clinical Genome Resource (ClinGen) has assembled Variant Curation Expert Panels (VCEPs), groups of experts and biocurators which provide gene- and disease- specifications to the American College of Medical Genetics & Genomics and Association for Molecular Pathology's (ACMG/AMP) variation classification guidelines. With the goal of classifying the clinical significance of GAA variants in Pompe disease (Glycogen storage disease, type II), the ClinGen Lysosomal Diseases (LD) VCEP has specified the ACMG/AMP criteria for GAA. Variant classification can play an important role in confirming the diagnosis of Pompe disease as well as in the identification of carriers. Furthermore, since the inclusion of Pompe disease on the Recommended Uniform Screening Panel (RUSP) for newborns in the USA in 2015, the addition of molecular genetic testing has become an important component in the interpretation of newborn screening results, particularly for asymptomatic individuals. To date, the LD VCEP has submitted classifications and supporting data on 243 GAA variants to public databases, specifically ClinVar and the ClinGen Evidence Repository. Here, we describe the ACMG/AMP criteria specification process for GAA, an update of the GAA-specific variant classification guidelines, and comparison of the ClinGen LD VCEP's GAA variant classifications with variant classifications submitted to ClinVar. The LD VCEP has added to the publicly available knowledge on the pathogenicity of variants in GAA by increasing the number of expert-curated GAA variants present in ClinVar, and aids in resolving conflicting classifications and variants of uncertain clinical significance., Competing Interests: Declaration of Competing Interest The following authors work or have worked in a fee-for-service diagnostic laboratory that offers GAA sequence analysis or enzymatic testing for Pompe disease: JM, DK, SG, YP, BD, TD, RU, DB, CH, LR, RS, FV, YW, and CR. RS is a medical consultant for the Wisconsin Newborn Screening Program; consults and has equity interest in Acer Therapeutics, and PTC Therapeutics; consults for DNARx, Best Doctors/Teladoc, Leadiant, Travere; has received honoraria from Medscape/WebMD, and research support from Alexion., (Copyright © 2023. Published by Elsevier Inc.)
- Published
- 2023
- Full Text
- View/download PDF
38. Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
- Author
-
Tavakoli NP, Gruber D, Armstrong N, Chung WK, Maloney B, Park S, Wynn J, Koval-Burt C, Verdade L, Tegay DH, Cohen LL, Shapiro N, Kennedy A, Noritz G, Ciafaloni E, Weinberger B, Ellington M Jr, Schleien C, Spinazzola R, Sood S, Brower A, Lloyd-Puryear M, and Caggana M
- Subjects
- Infant, Humans, Male, Infant, Newborn, Female, Neonatal Screening methods, Pilot Projects, Genetic Testing methods, High-Throughput Nucleotide Sequencing, Muscular Dystrophy, Duchenne diagnosis, Muscular Dystrophy, Duchenne genetics
- Abstract
Objective: Duchenne muscular dystrophy (DMD) is an X-linked disorder resulting in progressive muscle weakness and atrophy, cardiomyopathy, and in late stages, cardiorespiratory impairment, and death. As treatments for DMD have expanded, a DMD newborn screening (NBS) pilot study was conducted in New York State to evaluate the feasibility and benefit of NBS for DMD and to provide an early pre-symptomatic diagnosis., Methods: At participating hospitals, newborns were recruited to the pilot study, and consent was obtained to screen the newborn for DMD. The first-tier screen measured creatine kinase-MM (CK-MM) in dried blood spot specimens submitted for routine NBS. Newborns with elevated CK-MM were referred for genetic counseling and genetic testing. The latter included deletion/duplication analysis and next-generation sequencing (NGS) of the DMD gene followed by NGS for a panel of neuromuscular conditions if no pathogenic variants were detected in the DMD gene., Results: In the two-year pilot study, 36,781 newborns were screened with CK-MM. Forty-two newborns (25 male and 17 female) were screen positive and referred for genetic testing. Deletions or duplications in the DMD gene were detected in four male infants consistent with DMD or Becker muscular dystrophy. One female DMD carrier was identified., Interpretation: This study demonstrated that the state NBS program infrastructure and screening technologies we used are feasible to perform NBS for DMD. With an increasing number of treatment options, the clinical utility of early identification for affected newborns and their families lends support for NBS for this severe disease., (© 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)
- Published
- 2023
- Full Text
- View/download PDF
39. Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy.
- Author
-
Maloney B, Park S, Sowizral M, Brackett I, Moslehi R, Chung WK, Gruber D, Brower A, Lloyd-Puryear M, Caggana M, and Tavakoli NP
- Subjects
- Infant, Humans, Infant, Newborn, Neonatal Screening, Birth Weight, Pilot Projects, Creatine Kinase, Muscular Dystrophy, Duchenne diagnosis, Muscular Dystrophy, Duchenne genetics
- Abstract
Introduction: Newborn screening for Duchenne muscular dystrophy can be performed via a first-tier creatine kinase-MM measurement followed by reflex testing to second-tier molecular analysis of the DMD gene. In order to establish appropriate cut-offs for the creatine kinase-MM screen, factors that influence creatine kinase-MM in newborns were investigated., Materials and Methods: Creatine kinase-MM data from a consented pilot study in New York State were collected over a two-year period and combined with de-identified validation data and analyzed. Univariate analysis and multiple linear regression analysis were performed., Results: The analysis indicated that age of newborn at specimen collection, gestational age and birth weight were significant influencers of CK-MM levels in newborns. In addition, to a lesser extent, sex, race/ethnicity and seasonal temperature also affect CK-MM levels in newborns., Conclusions: To reduce false positive and false negative cases, newborn screening programs should be cognizant of factors that influence CK-MM when determining cut-offs for the assay. Variability based on age at specimen collection and birth weight are primarily observed within the first week of life. Therefore, particularly during this time period, multi-tiered cut-offs based on age of collection and lower cut-offs for premature and low birth weight babies are recommended. Other cut-off determinants may include sex, race/ethnicity and seasonal temperature., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Wadsworth Center, New York State Department of Health. Published by Elsevier Inc. All rights reserved.)
- Published
- 2023
- Full Text
- View/download PDF
40. Are we prepared to deliver gene-targeted therapies for rare diseases?
- Author
-
Yu TW, Kingsmore SF, Green RC, MacKenzie T, Wasserstein M, Caggana M, Gold NB, Kennedy A, Kishnani PS, Might M, Brooks PJ, Morris JA, Parisi MA, and Urv TK
- Subjects
- Humans, Rare Diseases genetics, Rare Diseases therapy, Genetic Therapy
- Abstract
The cost and time needed to conduct whole-genome sequencing (WGS) have decreased significantly in the last 20 years. At the same time, the number of conditions with a known molecular basis has steadily increased, as has the number of investigational new drug applications for novel gene-based therapeutics. The prospect of precision gene-targeted therapy for all seems in reach… or is it? Here we consider practical and strategic considerations that need to be addressed to establish a foundation for the early, effective, and equitable delivery of these treatments., (© 2023 Wadsworth Center, New York State Department of Health and The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.)
- Published
- 2023
- Full Text
- View/download PDF
41. When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.
- Author
-
Parisi MA, Caggana M, Cohen JL, Gold NB, Morris JA, Orsini JJ, Urv TK, and Wasserstein MP
- Subjects
- Infant, Newborn, Humans, Child, Longevity, Genetic Testing
- Abstract
This paper focuses on the question of, "When is the best time to identify an individual at risk for a treatable genetic condition?" In this review, we describe a framework for considering the optimal timing for pursuing genetic and genomic screening for treatable genetic conditions incorporating a lifespan approach. Utilizing the concept of a carousel that represents the four broad time periods when critical decisions might be made around genetic diagnoses during a person's lifetime, we describe genetic testing during the prenatal period, the newborn period, childhood, and adulthood. For each of these periods, we describe the objectives of genetic testing, the current status of screening or testing, the near-term vision for the future of genomic testing, the advantages and disadvantages of each approach, and the feasibility and ethical considerations of testing and treating. The notion of a "Genomics Passbook" is one where an early genomic screening evaluation could be performed on each individual through a public health program, with that data ultimately serving as a "living document" that could be queried and/or reanalyzed at prescribed times during the lifetime of that person, or in response to concerns about symptoms of a genetic disorder in that individual., (© 2023 Wadsworth Center, New York State Department of Health and The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.)
- Published
- 2023
- Full Text
- View/download PDF
42. Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays.
- Author
-
Dantonio P, Tavakoli NP, Migliore B, McCown E, Lim T, Park S, Caggana M, Kucera KS, Phan H, Street N, Petritis K, and Vogt RF
- Abstract
Pilot studies to detect newborns with Duchenne Muscular Dystrophy (DMD) by newborn bloodspot screening (NBS) have been conducted under the New York State Newborn Screening Program (NYS) and are currently in progress as part of the Early Check Program at Research Triangle Institute (RTI) International. The Newborn Screening Quality Assurance Program (NSQAP) at the U.S. Centers for Disease Control and Prevention (CDC) produced a set of seven prototype dried blood spot (DBS) reference materials spiked with varying levels of creatine kinase MM isoform (CK-MM). These DBS were evaluated over a 3-week period by CDC, NYS, and RTI, all using the same CK-MM isoform-specific fluoroimmunoassay. Results from each laboratory were highly correlated with the relative proportion of CK-MM added to each of the six spiked pools. Based on reference ranges established by NYS and RTI for their pilot studies, these contrived DBS collectively spanned the CK-MM ranges found in typical newborns and the elevated ranges associated with DMD. This set allows quality assessment over the wide range of fluctuating CK-MM levels in typical and DMD-affected newborns.
- Published
- 2023
- Full Text
- View/download PDF
43. Regulation of Laboratory-Developed Tests in Preventive Oncology: Emerging Needs and Opportunities.
- Author
-
Offit K, Sharkey CM, Green D, Wu X, Trottier M, Hamilton JG, Walsh MF, Dandiker S, Belhadj S, Lipkin SM, Sugrañes TA, Caggana M, and Stadler ZK
- Subjects
- Aged, Humans, United States, Pandemics, Medicare, COVID-19 prevention & control, Clinical Laboratory Services, Neoplasms diagnosis, Neoplasms prevention & control, Neoplasms genetics
- Abstract
Cancer predictive or diagnostic assays, offered as Laboratory-Developed Tests (LDTs), have been subject to regulatory authority and enforcement discretion by the US Food and Drug Administration. Many LDTs enter the market without US Food and Drug Administration or any regulatory review. The Centers for Medicare & Medicaid Services under the Clinical Laboratory Improvement Amendments focuses on analytic performance, but has limited oversight of the quality or utility of LDTs, including whether patients have been harmed as a result of their use. Increasingly, LDTs for cancer risk or early detection have been marketed directly to consumers, with many LDT developers depicting these tests, requested by patients but ordered by personal or company-associated physicians, as procedures falling under the practice of medicine. This patchwork of regulation and enforcement uncertainty regarding LDTs and public concerns about accuracy of tests given emergency authorization during the COVID-19 pandemic led to the Verifying Accurate Leading-edge IVCT (in vitro clinical test) Development Act of 2021. This pending federal legislation represents an opportunity to harmonize regulatory policies and address growing concerns over quality, utility, and safety of LDTs for cancer genomics, including tests marketed directly to consumers. We review here questions regarding the potential benefits and harms of some cancer-related LDTs for cancer risk and presymptomatic molecular diagnosis, increasingly marketed to oncologists or directly to the worried well. We offer specific proposals to strengthen oversight of the accuracy and clinical utility of cancer genetic testing to ensure public safety.
- Published
- 2023
- Full Text
- View/download PDF
44. Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors.
- Author
-
Kharrazi M, Sacramento C, Comeau AM, Hale JE, Caggana M, Kay DM, Lee R, Reilly B, Thompson JD, Nasr SZ, Kleyn M, Hoffman G, Baker MW, Clarke C, Harris CL, Dorley MC, Fryman H, Sutaria A, Hietala A, Winslow H, Richards H, and Therrell BL
- Abstract
Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are missed. This survey aimed to find factors associated with missed CF cases due to IRT levels below program cutoffs. Twenty-nine states responded to a U.S-wide survey and 13 supplied program-related data for low IRT false screen negative cases (CFFN) and CF true screen positive cases (CFTP) for analysis. Rates of missed CF cases and odds ratios were derived for each factor in CFFNs, and two CFFN subgroups, IRT above ("high") and below ("low") the CFFN median (39 ng/mL) compared to CFTPs for this entire sample set. Factors associated with "high" CFFN subgroup were Black race, higher IRT cutoff, fixed IRT cutoff, genotypes without two known CF-causing variants, and meconium ileus. Factors associated with "low" CFFN subgroup were older age at specimen collection, Saturday birth, hotter season of newborn dried blood spot collection, maximum ≥ 3 days laboratories could be closed, preterm birth, and formula feeding newborns. Lowering IRT cutoffs may reduce "high" IRT CFFNs. Addressing hospital and laboratory factors (like training staff in collection of blood spots, using insulated containers during transport and reducing consecutive days screening laboratories are closed) may reduce "low" IRT CFFNs.
- Published
- 2022
- Full Text
- View/download PDF
45. Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.
- Author
-
Lee BH, Deng S, Chiriboga CA, Kay DM, Irumudomon O, Laureta E, Delfiner L, Treidler SO, Anziska Y, Sakonju A, Kois C, Farooq O, Engelstad K, Laurenzano A, Hogan K, Caggana M, Saavedra-Matiz CA, Stevens CF, and Ciafaloni E
- Subjects
- Infant, Infant, Newborn, Humans, New York, Retrospective Studies, Real-Time Polymerase Chain Reaction, Neonatal Screening, Muscular Atrophy, Spinal diagnosis, Muscular Atrophy, Spinal genetics, Muscular Atrophy, Spinal therapy
- Abstract
Background and Objectives: Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability and efficacy of newly approved disease-modifying therapies. New York State (NYS) started universal newborn screening for SMA in October 2018. The authors report the findings from the first 3 years of screening., Methods: Statewide neonatal screening was conducted using DNA extracted from dried blood spots using a real-time quantitative PCR assay. Retrospective follow-up data were collected from 9 referral centers across the state on 34 infants., Results: In the first 3 years since statewide implementation, nearly 650,000 infants have been screened for SMA. Thirty-four babies screened positive and were referred to a neuromuscular specialty care center. The incidence remains lower than previously predicted. The majority (94%), including all infants with 2-3 copies of survival motor neuron ( SMN) 2, have received treatment. Among treated infants, the overwhelming majority (94%; 30/32) have received gene replacement. All infants in this cohort with 3 copies of SMN2 are clinically asymptomatic posttreatment based on early clinical follow-up data. Infants with 2 copies of SMN2 are more variable in their outcomes. Electrodiagnostic outcomes data obtained from a subgroup of patients (n = 11) demonstrated either improvement or no change in compound muscle action potential (CMAP) amplitude at last clinical follow-up compared with pretreatment baseline. Most infants were treated before 6 weeks of age (median = 34.5 days of life; range 11-180 days). Delays and barriers to treatment identified by treating clinicians followed 2 broad themes: medical and nonmedical. Medical delays most commonly reported were the presence of AAV9 antibodies and elevated troponin I levels. Nonmedical barriers included delays in obtaining insurance and insurance policies regarding specific treatment modalities., Discussion: The findings from the NYS cohort of newborn screen-identified infants are consistent with other reports of improved outcomes from early diagnosis and treatment. Additional biomarkers of motor neuron health including EMG can potentially be helpful in detecting preclinical decline., (© 2022 American Academy of Neurology.)
- Published
- 2022
- Full Text
- View/download PDF
46. Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot.
- Author
-
Hartnett MJ, Lloyd-Puryear MA, Tavakoli NP, Wynn J, Koval-Burt CL, Gruber D, Trotter T, Caggana M, Chung WK, Armstrong N, and Brower AM
- Abstract
Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the formation of the Duchenne Newborn Screening Consortium, the development of the pilot protocols, data collection tools including parent surveys, and findings from the first year of a two-year pilot. The DMD pilot design is population-based recruitment of infants born in New York State. Data tools were developed to document the analytical and clinical validity of DMD NBS, capture parental attitudes, and collect longitudinal health information for diagnosed newborns. Data visualizations were updated monthly to inform the consortium on enrollment. After 12 months, 15,754 newborns were screened for DMD by the New York State Newborn Screening (NYS NBS) Program. One hundred and forty screened infants had borderline screening results, and sixteen infants were referred for molecular testing. Three male infants were diagnosed with dystrophinopathy. Data from the first year of a two-year NBS pilot for DMD demonstrate the feasibility of NBS for DMD. The consortia approach was found to be a useful model, and the Newborn Screening Translational Research Network's data tools played a key role in describing the NBS pilot findings and engaging stakeholders.
- Published
- 2022
- Full Text
- View/download PDF
47. Utility of Newborn Dried Blood Spots to Ascertain Seroprevalence of SARS-CoV-2 Antibodies Among Individuals Giving Birth in New York State, November 2019 to November 2021.
- Author
-
Damjanovic A, Styer LM, Nemeth K, Yauney E, Rock JM, Bievenue R, Hoen R, Ehrbar D, Kay DM, Caggana M, and Parker MM
- Subjects
- Adult, Antibodies, Viral, Birth Weight, COVID-19 Vaccines, Cross-Sectional Studies, Female, Humans, Immunoglobulin G, Infant, Infant, Newborn, Male, New York epidemiology, Parturition, Pregnancy, Seroepidemiologic Studies, COVID-19 diagnosis, COVID-19 epidemiology, SARS-CoV-2
- Abstract
Importance: Serosurveys can be used to monitor population-level dynamics of COVID-19 and vaccination. Dried blood spots (DBSs) collected from infants contain maternal IgG antibodies and are useful for serosurveys of individuals recently giving birth., Objectives: To examine SARS-CoV-2 antibody prevalence in pregnant individuals in New York State, identify associations between SARS-CoV-2 antibody status and maternal and infant characteristics, and detect COVID-19 vaccination among this population., Design, Setting, and Participants: A population-based, repeated cross-sectional study was conducted to detect SARS-CoV-2 nucleocapsid (N) and spike (S) IgG antibodies. Deidentified DBS samples and data submitted to the New York State Newborn Screening Program between November 1, 2019, and November 30, 2021, were analyzed., Exposures: Prenatal exposure to SARS-CoV-2 antibodies., Main Outcomes and Measures: The presence of IgG antibodies to SARS-CoV-2 N and S antigens was measured using a microsphere immunoassay. Data were analyzed by geographic region and compared with reported COVID-19 cases and vaccinations among reproductive-aged females (15-44 years of age). Data were stratified by infant birth weight, gestational age, maternal age, and multiple birth status., Results: Dried blood spot samples from 415 293 infants (median [IQR] age, 1.04 [1.00-1.20] days; 210 805 [51.1%] male) were analyzed for SARS-CoV-2 antibodies. The first known antibody-positive infant in New York State was born on March 29, 2020. SARS-CoV-2 seroprevalence reflected statewide and regional COVID-19 cases among reproductive-aged females in the prevaccine period. From February through November 2021, S seroprevalence was strongly correlated with cumulative vaccinations in each New York State region and in the state overall (rs = 0.92-1.00, P ≤ .001). S and N seroprevalences were significantly lower in newborns with very low birth weight (720 [14.8%] for S and 138 [2.8%] for N, P < .001) and low birth weight (5160 [19.3%] for S and 1233 [4.6%] for N, P = .009) compared with newborns with normal birth weight (77 116 [20.1%] for S and 19 872 [5.2%] for N). Lower N and higher S seroprevalences were observed in multiple births (odds ratio [OR], 0.84; 95% CI, 0.75-0.94; P = .002 for N and OR, 1.24; 95% CI, 1.18-1.31; P < .001 for S) vs single births and for maternal age older than 30 years (OR, 0.87; 95% CI, 0.80-0.94; P < .001 for N and OR, 1.17; 95% CI, 1.11-1.23; P < .001 for S) vs younger than 20 years., Conclusions and Relevance: In this study, seroprevalence in newborn DBS samples reflected COVID-19 case fluctuations and vaccinations among reproductive-aged women during the study period. These results demonstrate the utility of using newborn DBS testing to estimate SARS-CoV-2 seroprevalence in pregnant individuals.
- Published
- 2022
- Full Text
- View/download PDF
48. Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
- Author
-
Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, and Watson M
- Abstract
Each year, through population-based newborn screening (NBS), 1 in 294 newborns is identified with a condition leading to early treatment and, in some cases, life-saving interventions. Rapid advancements in genomic technologies to screen, diagnose, and treat newborns promise to significantly expand the number of diseases and individuals impacted by NBS. However, expansion of NBS occurs slowly in the United States (US) and almost always occurs condition by condition and state by state with the goal of screening for all conditions on a federally recommended uniform panel. The Newborn Screening Translational Research Network (NBSTRN) conducted the NBS Expansion Study to describe current practices, identify expansion challenges, outline areas for improvement in NBS, and suggest how models could be used to evaluate changes and improvements. The NBS Expansion Study included a workshop of experts, a survey of clinicians, an analysis of data from online repositories of state NBS programs, reports and publications of completed pilots, federal committee reports, and proceedings, and the development of models to address the study findings. This manuscript (Part One) reports on the design, execution, and results of the NBS Expansion Study. The Study found that the capacity to expand NBS is variable across the US and that nationwide adoption of a new condition averages 9.5 years. Four factors that delay and/or complicate NBS expansion were identified. A companion paper (Part Two) presents a use case for each of the four factors and highlights how modeling could address these challenges to NBS expansion., Competing Interests: Author RL was employed by Connectics Consulting. WW was employed by Mayo Clinic. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Brower, Chan, Williams, Berry, Currier, Rinaldo, Caggana, Gaviglio, Wilcox, Steiner, Holm, Taylor, Orsini, Brunelli, Adelberg, Bodamer, Viall, Scharfe, Wasserstein, Chen, Escolar, Goldenberg, Swoboda, Ficicioglu, Matern, Lee and Watson.)
- Published
- 2022
- Full Text
- View/download PDF
49. Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.
- Author
-
Gruber D, Lloyd-Puryear M, Armstrong N, Scavina M, Tavakoli NP, Brower AM, Caggana M, and Chung WK
- Subjects
- Child, Male, Infant, Newborn, Female, Humans, Neonatal Screening, Muscle Weakness, Pilot Projects, Algorithms, Dystrophin genetics, Muscular Dystrophy, Duchenne diagnosis, Muscular Dystrophy, Duchenne genetics
- Abstract
Duchenne muscular dystrophy (DMD) is the most common pediatric-onset form of muscular dystrophy, occurring in 1 in 5,000 live male births. DMD is a multi-system disease resulting in muscle weakness with progressive deterioration of skeletal, heart, and smooth muscle, and learning disabilities. Pathogenic/likely pathogenic (P/LP) variants in the DMD gene, which encodes dystrophin protein, cause dystrophinopathy. All males with a P/LP variant in the X-linked DMD gene are expected to be affected. Two to 20% of female heterozygotes with a P/LP variant develop symptoms of dystrophinopathy ranging from mild muscle weakness to significant disability similar to Becker muscular dystrophy. Recently, with improvements in therapies and testing methodology, there is stronger evidence supporting newborn screening (NBS) for DMD for males and females because females may also develop symptoms. A consented pilot study to screen newborns for DMD was initiated in New York State (NYS) and conducted from 2019 to 2021. The identification of female carriers and the realization of the subsequent uncertainty of providers concerning follow-up during the pilot led to the development of algorithms for screening and diagnosis of carrier females, including both NBS and cascade molecular testing of family members., (© 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.)
- Published
- 2022
- Full Text
- View/download PDF
50. Creatine kinase-MM concentration in dried blood spots from newborns and implications for newborn screening for Duchenne muscular dystrophy.
- Author
-
Park S, Maloney B, Caggana M, and Tavakoli NP
- Subjects
- Creatine Kinase, Humans, Infant, Newborn, Neonatal Screening, Pilot Projects, Reference Values, Muscular Dystrophy, Duchenne diagnosis
- Abstract
Introduction/aims: Creatine kinase-MM (CK-MM) is a marker of skeletal muscle damage. Detection of elevated levels of CK-MM in newborns can enable an early suspicion of the diagnosis of Duchenne muscular dystrophy (DMD) before symptom onset. Our aim was to investigate CK-MM levels in DMD-affected and unaffected newborns using an immunoassay that measures CK-MM concentration in dried blood spots collected for routine newborn screening., Methods: To validate the assay in our laboratory, CK-MM measurements and newborn demographic information were collected for 8584 de-identified specimens and 15 confirmed DMD patients. After analyzing validation data, CK-MM normal ranges were determined based on age of newborn at specimen collection. Subsequently, the assay was used to measure CK-MM concentration in 26 135 newborns as part of a consented pilot study to screen for DMD in New York State. Mean and median levels of CK-MM based on age of collection, in addition to the 2.5th, 50th, 97.5th, and 99.5th percentiles, were recalculated using the validation and screening data sets., Results: Median CK-MM within 1 hour of birth was 109 ng/mL, rose to a high of 499 ng/mL at 25 hours of age, and then declined to 200 ng/mL at 2 days of life. The median continued to decline more slowly and then stabilized at approximately 40 ng/mL at 1 week of life., Discussion: Because of the marked variability and elevated CK-MM levels observed within the first days of life, it is important to set multiple CK-MM age-related cut-offs when screening for DMD in newborns., (© 2022 Wadsworth Center, New York State Department of Health. Muscle & Nerve published by Wiley Periodicals LLC.)
- Published
- 2022
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.