A comprehensive screening program for cystic fibrosis

Israel Medical Association Journal

Volumn 11, Issue 9, 2009, Pages 555-557

  Zlotogora, Joël ^a,b,c   Israeli, Avi ^b,c  

^a MINISTRY OF HEALTH   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

Author keywords

Carrier screening; Cystic fibrosis; Genetic testing; Newborn screening

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

BETA THALASSEMIA; CYSTIC FIBROSIS; EARLY DIAGNOSIS; FALSE POSITIVE RESULT; GENE MUTATION; GENETIC COUNSELING; HYPOTHYROIDISM; INCIDENCE; ISRAEL; MATERNAL AGE; MEDICAL SOCIETY; NEWBORN SCREENING; PHENYLKETONURIA; PRACTICE GUIDELINE; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRENATAL SCREENING; REVIEW; SCREENING; TAY SACHS DISEASE;

ADULT; ARABS; CYSTIC FIBROSIS; FEMALE; GENETIC COUNSELING; GENETIC TESTING; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; ISRAEL; JEWS; MALE; NEONATAL SCREENING; PREGNANCY; RISK FACTORS;

EID: 68949197851     PISSN: 15651088     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (13)

1. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ; Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001; 3(2): 149-154
2. Grody WW, Cutting GR, Watson MS. The Cystic Fibrosis mutation "arms race": when less is more. Genet Med 2007; 9(11): 739-744
3. Wilcken B. Newborn screening for cystic fibrosis: techniques and strategies. J Inherit Metab Dis 2007; 30(4): 537-543 Epub 2007 May 12. (Pubitemid 47377049)
4. Statistical Abstracts of Israel. Jerusalem: Bureau of Statistics, 2008.
5. Chemke J, Zlotogora J. Genetic services in Israel. Eur J Hum Genet 1997; 5(Suppl 2): 105-111
6. Zlotogora J, Leventhal A. Screening for genetic disorders among Jews: how should the Tay-Sachs screening program be continued? IMAJ Isr Med Assoc J 2000; 2(9): 665-667 (Pubitemid 30762930)
7. Abeliovich D, Lavon IP, Lerer I, et al. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 1992; 51(5): 951-956
8. Quint A, Lerer I, Sagi M, Abeliovich D. Mutation spectrum in Jewish cystic fibrosis patients in Israel: implications for carrier screening. Am J Med Genet A 2005; 136(3): 246-248 (Pubitemid 40967089)
9. Laufer-Cahana A, Lerer I, Sagi M, et al. Cystic fibrosis mutations in Israeli Arab patients. Hum Mutat 1999; 14(6): 543.
10. Sher C, Romano-Zelekha O, Green MS, Shohat T. Factors affecting performance of prenatal genetic testing by Israeli Jewish women. Am J Med Genet A 2003; 30: 418-422 (Pubitemid 37063781)
11. Sher C, Romano-Zelekha O, Green MS, Shohat T. Utilization of prenatal genetic testing by Israeli Moslem women: a national survey. Clin Genet 2004; 65(4): 278-283 (Pubitemid 38443549)
12. Department of Community Genetics, Israel Ministry of health (accessed 30 August 2009, at http://www.health.gov.il/genetics).
13. Massie J, Forbes R, Dusart D, Bankier A, Delatycki MB. Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis. J Paediatr Child Health 2007; 43(11): 721-723 (Pubitemid 47537624)