Cystic fibrosis carrier screening effects on birth prevalence and newborn screening

Genetics in Medicine

Volumn 18, Issue 2, 2016, Pages 145-151

  Castellani, Carlo ^a   Picci, Luigi ^b   Tridello, Gloria ^a   Casati, Elia ^a   Tamanini, Anna ^a   Bartoloni, Lucia ^c   Scarpa, Maurizio ^b   Assael, Baroukh M ^a  

^a UNIVERSITY HOSPITAL OF VERONA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c Ospedale SS Giovanni e Paolo   (Italy)

Author keywords

birth prevalence; carrier screening; carrier testing; cystic fibrosis; newborn screening

Indexed keywords

CHLORIDE;

ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FETUS; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; INFANT; ITALY; MAJOR CLINICAL STUDY; MECONIUM ILEUS; NEWBORN; NEWBORN SCREENING; PREVALENCE; SWEAT; GENETICS; HETEROZYGOTE;

CYSTIC FIBROSIS; GENETIC TESTING; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; ITALY; NEONATAL SCREENING; PREVALENCE;

EID: 84957612708     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.68     Document Type: Article

References (27)

1. Rommens JM, Iannuzzi MC, Kerem B., et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989; 245: 1059-1065
2. Watson MS, Cutting GR, Desnick RJ., et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004; 6: 387-391
3. American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol 2011; 117: 1028-1031
4. Castellani C, Macek M Jr, Cassiman JJ., et al. Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros 2010; 9: 165-178
5. Strom CM, Crossley B, Buller-Buerkle A., et al. Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis. Genet Med 2011; 13: 166-172
6. Zlotogora J. Population programs for the detection of couples at risk for severe monogenic genetic diseases. Hum Genet 2009; 126: 247-253
7. Massie J, Petrou V, Forbes R., et al. Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience. Aust N Z J Obstet Gynaecol 2009; 49: 484-489
8. Castellani C, Picci L, Tamanini A, Girardi P, Rizzotti P, Assael BM. Association between carrier screening and incidence of cystic fibrosis. JAMA 2009; 302: 2573-2579
9. Cunningham S, Marshall T. Influence of five years of antenatal screening on the paediatric cystic fibrosis population in one region. Arch Dis Child 1998; 78: 345-348
10. Witt DWC, Goonewardena P, Louie E, Rosenfeld S. Cystic fibrosis prenatal screening of 103, 600 individuals in an HMO: molecular/clinical outcomes and a dramatic reduction in CF incidence (abstract). American Society of Human Genetics (Proceedings of Annual Meeting), Philadelphia, 2008
11. Sims EJ, Mugford M, Clark A., et al.; UK Cystic Fibrosis Database Steering Committee. Economic implications of newborn screening for cystic fibrosis: a cost of illness retrospective cohort study. Lancet 2007; 369: 1187-1195
12. Lai HJ, Cheng Y, Farrell PM. The survival advantage of patients with cystic fibrosis diagnosed through neonatal screening: evidence from the United States Cystic Fibrosis Foundation registry data. J Pediatr 2005; 147(3 suppl): S57-S63
13. Farrell PM, Kosorok MR, Laxova A., et al. Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. N Engl J Med 1997; 337: 963-969
14. Southern KW, Munck A, Pollitt R., et al.; ECFS CF Neonatal Screening Working Group. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 2007; 6: 57-65
15. Castellani C, Southern KW, Brownlee K., et al. European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009; 8: 153-173
16. Kerem E, Conway S, Elborn S, Heijerman H; Consensus Committee. Standards of care for patients with cystic fibrosis: a European consensus. J Cyst Fibros 2005; 4: 7-26
17. Smyth AR, Bell SC, Bojcin S., et al. European cystic fibrosis society standards of care: best practice guidelines. J Cyst Fibros. 2014 May; 13 Suppl 1: S23-42. http://www. dx.doi.org/10.1016/j.jcf.2014.03.010
18. Cystic Fibrosis Foundation. Borowitz D, Parad RB, Sharp JK., et al. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 2009; 155(6 suppl): S106-16
19. Mayell SJ, Munck A, Craig JV., et al.; European Cystic Fibrosis Society Neonatal Screening Working Group. A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros 2009; 8: 71-78
20. Castellani C, Massie J. Newborn screening and carrier screening for cystic fibrosis: alternative or complementary?. Eur Respir J 2014; 43: 20-23
21. Sosnay PR, Siklosi KR, Van Goor F., et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 2013; 45: 1160-1167
22. Efron B, Tibshirani R. Boostrap methods for standard errors, confidence intervals, and other measures of statistical accuracy. Stat Sci 1986; 1: 54-77
23. Sontag MK, Wagener JS, Accurso F, Sagel SD. Consistent incidence of cystic fibrosis in a long-term newborn screen population. Ped Pulmonol 2008; (suppl 31): 272
24. Scotet V, Duguépéroux I, Saliou P., et al. Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France. Orphanet J Rare Dis 2012; 7: 14
25. Scotet V, Assael BM, Duguépéroux I., et al. Time trends in birth incidence of cystic fibrosis in two European areas: data from newborn screening programs. J Pediatr 2008; 152: 25-32
26. Sims EJ, McCormick J, Mehta G, Mehta A; UK CF Database Steering Committee. Newborn screening for cystic fibrosis is associated with reduced treatment intensity. J Pediatr 2005; 147: 306-311
27. Bombieri C, Claustres M, De Boeck K., et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 2011; 10(suppl 2): S86-102