Fragile X syndrome carrier screening in the prenatal genetic counseling setting

Genetics in Medicine

Volumn 7, Issue 4, 2005, Pages 246-250

  Cronister, Amy ^a,c   DiMaio, Miriam ^b   Mahoney, Maurice J ^b   Donnenfeld, Alan E ^a   Hallam, Stephanie ^a  

^a Genzyme Genetics   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c GENZYME GENETICS   (United States)

Author keywords

Carrier testing; FMR 1; Fragile X syndrome; Genetic screening; Prenatal genetic counseling

Indexed keywords

ADULT; ARTICLE; FAMILY HISTORY; FEMALE; FRAGILE X SYNDROME; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; OUTCOMES RESEARCH; PRENATAL DIAGNOSIS;

AGE FACTORS; BLOTTING, SOUTHERN; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE FREQUENCY; GENETIC COUNSELING; GENETIC SCREENING; HUMANS; LOGISTIC MODELS; MATERNAL EXPOSURE; MUTATION; NERVE TISSUE PROTEINS; PATIENT ACCEPTANCE OF HEALTH CARE; POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 18344393077     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000159898.90221.D3     Document Type: Article

References (25)

1. Lubs HA. A marker X chromosome. Am J Hum Genet 1969;21:231-244.
2. Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliff JS, Richard S et al. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 1991;67:1047-1058.
3. Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 1991;252:1711-1714.
4. Oberle I, Rousseau F, Heitz D, Kretz D, Devys D, Honauer A et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097-1102.
5. Verkerk AJ, Pieretti M, Sutcliff JS, Fu YH, Kuhl DPA, Pizutti A et al. Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-914.
6. Turner G, Webb T, Wake S, Robinson H. Prevalence of fragile X syndrome. Am J Med Genet 1996;64:196-197.
7. Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. Prevalence of carriers of permutation-sized alleles of the FMR1 gene- and implications for the population genetics of fragile X syndrome. Am J Hum Genet 1995;57:1006-1018.
8. Rousseau F, Morel ML, Rouillard P, Khandjian EW, Morgan K. Surprisingly low prevalence of FMR1 premutations among males from the general population (abstract) Am J Hum Genet 1996;59(suppl):A188:1069.
9. American College of Medical Genetics. Policy Statement: Fragile X syndrome: Diagnostic and carrier testing. Am J Med Genet 1994;53:380-381.
10. Palomaki GE. Population based prenatal screening for the fragile K syndrome. J Med Screen 1994;1:65-72.
11. Finucane B. Should all pregnant women be offered carrier testing for fragile X syndrome? Clin Obstet Gynecol 1996;39:772-781.
12. Ryynanen M, Heinonen S, Makkonen M, Kajanoja, Mannermaa A, Pertti K. Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies. Eur J Hum Genet 1999;7:212-216.
13. Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M et al. Screening for fragile X syndrome in women of reproductive age. Prenat Diagn 2000;20:611-614.
14. Toledano-Alhadef H, Basel-Vanagaite L, Magal N, Davidov B, Ehrlich S, Drasinover V et al. Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am J Hum Genet 2001;69:351-360.
15. Berkenstadt M, Ries-Levavi L, Goldman B, Spiegel M, Gerard L, Cuckle H et al. Prenatal and preconceptional screening for fragile X syndrome: experience with 37,000 tests. Paper presented at American Society of Human Genetics Annual Meeting. Toronto, October 26-30, 2004.
16. Musci TJ, Caughey AB. Cost-effectiveness analysis of prenatal population-based fragile X carrier screening. Am J Obstet Gynecol 2003;189:A197:S117.
17. Brown WT, Houck GE Jr, Jeziorowska A, Levinson FN, Ding X, Dobkin C et al. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 1993;270:1569-1575.
18. Rousseau R, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991;325:1673-1681.
19. Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE et al. Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the standards and guidelines for clinical genetics laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med 2001;3:200-205.
20. Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A et al. Expansion of the fragile XCGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003;72:454-464.
21. Zhong N, Kajanoja E, Smits B, Pertrofesa D, Curley D, Wang D et al. Fragile X founder effects and new mutations in Finland. Am J Med Genet 1996;64:226-233.
22. Song FJ, Barton P, Sleightholme V, Yao GL, Fry-Smith A. Screening for fragile X syndrome: a literature review and modeling study. Health Technol Assess 2003;7:1-106.
23. Johnston C, Eliez S, Dyer-Friedman J, Hessl D, Glaser B, Balsey C et al. Neurobehavioral phenotype in carriers of the fragile X premutation. Am J Med Genet 2001;103:314-319.
24. Murray A, Youings S, Dennis N, Latsky L, Linehan P, McKechnie N et al. Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 1996;5:727-735.
25. Skinner D, Sparkman KL, Bailey DB. Screening for fragile X syndrome: Parent attitudes and perspectives. Genet Med 2003;5:378-384.