Prevalence of trisomy 21 following folic acid food fortification

American Journal of Medical Genetics

Volumn 120 A, Issue 3, 2003, Pages 309-313

  Ray, Joel G ^a,c   Meier, Chris ^b   Vermeulen, Marian J ^c   Cole, David E C ^a   Wyatt, Philip R ^b  

^a UNIVERSITY OF TORONTO   (Canada)

^b NORTH YORK GENERAL HOSPITAL   (Canada)

^c SUNNYBROOK RESEARCH INSTITUTE   (Canada)

Author keywords

Aneuploidy; Chromosome; Down syndrome; Folate; Folic acid; Fortification; Neural tube defect; Nutrition; Prevention; Trisomy 21

Indexed keywords

FOLIC ACID;

ADULT; ARTICLE; CONTROLLED STUDY; DIET SUPPLEMENTATION; DNA POLYMORPHISM; FEMALE; FLOUR; FOLATE METABOLISM; HUMAN; MAJOR CLINICAL STUDY; MATERNAL AGE; PREVALENCE; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; TRISOMY 21;

EID: 0042825263     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20161     Document Type: Article

References (34)

1. Al-Gazali LI, Padmanabhan R, Melnyk S, Yi P, Pogribny IP, Pogribna M, Bakir M, Hamid ZA, Abdulrazzaq Y, Dawodu A, James SJ. 2001. Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect. Am J Med Genet 103:128-132.
2. Beaman JM, Goldie DJ. 2001. Second trimester screening for Down's syndrome: 7 years experience. J Med Screen 8:128-131.
3. Bower C, Ryan A, Rudy E. 2001. Ascertainment of pregnancies terminated because of birth defects: Effect on completeness of adding a new source of data. Teratology 63:23-25.
4. Chadefaux-Vekemans B, Coude M, Muller F, Oury JF, Chabli A, Jais J, Kamoun P. 2002. Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome. Pediatr Res 51:766-767.
5. Chodirker BN, Cadrin C, Davies GAL, Summers AM, Wilson RD, Winsor EJT, Young D. 2001. Canadian guidelines for prenatal diagnosis. Genetic indications for prenatal diagnosis. SOGC clinical practise guidelines volume 105. Ottawa: The Society of Obstetricians and Gynaecologists of Canada.
6. Czeizel AE, Dudas I. 1992. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-1835.
7. Fenech M. 2001. The role of folic acid and vitamin B12 in genomic stability of human cells. Mutat Res 475:57-67.
8. Fenech M, Aitken C, Rinaldi J. 1998. Folate, vitamin B12, homocysteine status and DNA damage in young Australian adults. Carcinogenesis 19:1163-1171.
9. Gindler J, Li Z, Berry RJ, Zheng J, Correa A, Sun X, Wong L, Cheng L, Erickson JD, Wang Y, Tong Q. 2001. Folic acid supplements during pregnancy and risk of miscarriage. Lancet 358:796-800.
10. Hassold T, Hunt P. 2001. To err (meiotically) is human: The genesis of human aneuploidy. Nat Rev Genet 2:280-291.
11. Hassold T, Matsuyama A. 1979. Origin of trisomies in human spontaneous abortions. Hum Genet 46:285-294.
12. Hassold T, Sherman S. 2000. Down syndrome: Genetic recombination and the origin of the extra chromosome 21. Clin Genet 57:95-100.
13. Health Canada. 1998. Regulations amending the food and drug regulations. Schedule No. 1066 (Flour Fortification). Part II Canada Gazette November 25.
14. Hobbs CA, Sherman SL, Yi P, Hopkins SE, Torfs CP, Hine RJ, Pogribna M, Rozen R, James SJ. 2000. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet 67:623-630.
15. Hook EB, Czeizel AE. 1997. Can terathanasia explain the protective effect of folic-acid supplementation on birth defects? Lancet 350:513-515.
16. Howe DT, Gornall R, Wellesley D, Boyle T, Barber J. 2000. Six year survey of screening for Down's syndrome by maternal age and mid-trimester ultrasound scans. BMJ 320:606-610.
17. Kerr M, Rashad MN. 1966. Chromosome studies on spontaneous abortions. Am J Obstet Gynecol 94:322-339.
18. Lumley J, Watson L, Watson M, Bower C. 2000. Periconceptional supplementation with folate and/or multivitamins for preventing neural tube defects. Cochrane Database Syst Rev (2):CD001056.
19. Meier C, Huang T, Wyatt PR, Summers AM. 2002. Accuracy of expected risk of Down syndrome using the second-trimester triple test. Clin Chem 48:653-655.
20. Mills JL, McPartlin JM, Kirke PN, Lee YJ, Conley MR, Weir DG, Scott JM. 1995. Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet 345:149-151.
21. Morin VI, Mondor M, Wilson RD. 2001. Knowledge on periconceptional use of folic acid in women of British Columbia. Fetal Diagn Ther 16:111-115.
22. MRC Vitamin Study Research Group. 1991. Prevention of neural tube defects: Results of the Medical Research Council vitamin study. Lancet 338:131-137.
23. O'Leary VB, Parle-McDermott A, Molloy AM, Kirke PN, Johnson Z, Conley M, Scott JM, Mills JL. 2002. MTRR and MTHFR polymorphism: Link to Down syndrome? Am J Med Genet 107:151-155.
24. Opitz JM, Gilbert-Barness EF. 1990. Reflections on the pathogenesis of Down syndrome. Am J Med Genet (Suppl) 7:38-51.
25. Peeters MA, Megarbane A, Cattaneo F, Rethore MO, Lejeune J. 1993. Differences in purine metabolism in patients with Down's syndrome. J Intellect Disabil Res 37:491-505.
26. Pogribna M, Melnyk S, Pogribny I, Chango A, Yi P, James SJ. 2001. Homocysteine metabolism in children with Down syndrome: In vitro modulation. Am J Hum Genet 69:88-95.
27. Ray JG, Cole DE, Boss SC. 2000. An Ontario-wide study of vitamin B12, serum folate, and red cell folate levels in relation to plasma homocysteine: Is a preventable public health issue on the rise? Clin Biochem 33:337-343.
28. Ray JG, Meier C, Vermeulen MJ, Boss S, Wyatt PR, Cole DEC. 2002a. Association of neural tube defects and folic acid food fortification. Lancet 360:2047-2048.
29. Ray JG, Vermeulen MJ, Boss SC, Cole DEC. 2002b. Increased red cell folate concentrations in women of reproductive age after Canadian folic acid food fortification. Epidemiology 13:238-240.
30. Stein Z, Susser M, Warburton D, Wittes J, Kline J. 1975. Spontaneous abortion as a screening device. The effect of fetal survival on the incidence of birth defects. Am J Epidemiol 102:275-290.
31. Stein Z, Stein W, Susser M. 1986. Attrition of trisomies as a maternal screening device. An explanation of the association of trisomy 21 with maternal age. Lancet 1(8487):944-947.
32. Thompson JR, Gerald PF, Willoughby ML, Armstrong BK. 2001. Maternal folate supplementation in pregnancy and protection against acute lymphoblastic leukaemia in childhood: A case-control study. Lancet 358:1935-1940.
33. Yoon PW, Freeman SB, Sherman SL, Taft LF, Gu Y, Pettay D, Flanders WD, Khoury MJ, Hassold TJ. 1996. Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: A population-based study. Am J Hum Genet 58:628-633.
34. Zhou ZS, Zhao G, Wan W. 2001. Current developments in biological methylations. Front Biotech Pharm 2:199-217.