Преконцепционна употреба на фолиева киселина за първична профилактика на редки генетични заболявания
Abstract
Дефектите на невралната тръба (ДНТ) представляват група тежки вродени аномалии, които са свързани с висока смъртност, неблагоприятна прогноза и дългосрочни увреждания, както и със значителни емоционални, психологически и икономически последствия. Всяка година в ЕС се наблюдават приблизително 5 000 случаи на ДНТ. Повечето от тях се диагностицират пренатално с последващо прекратяване на бременността. Установено е, че преконцепционният прием на фолиева киселина може значително да намали риска за ДНТ. Въпреки това обаче, към днешна дата в европейските страни не съществуват програми и политики за прием на фолиева киселина при жени в репродуктивна възраст или по-специално при тези, които планират бременност.
Настоящата публикация има за цел да представи и анализира новите тенденции при употребата на фолиева киселина като средство за първична профилактика на редки генетични заболявания.
References
Khoshnood B, Loane M, de Walle H et al. Long term trends in prevalence of neural tube defects in Europe: population based study. BMJ (Clinical research ed.). 2015, 351, h5949.
De Boer A, Bast A, Godschalk R. Dietary supplement intake during pregnancy; better safe than sorry?. Regulatory Toxicology and Pharmacology. 2018, 95: 442-447.
Chrysanthopoulou E et al. Mandatory Folic Acid Food Fortification to Prevent Neural Tube Defects: The Pro or Con Debate. American Journal of Internal Medicine. 2018, 6.4: 66-72.
Crider S, Bailey B, Berry J. Folic acid food fortification-its history, effect, concerns, and future directions. Nutrients. 2011, 3(3), 370-84.
El-Shabrawi H, Kamal M, Elhusseini A et al. Folic Acid Intake and Neural Tube Defects: Two Egyptian Centers Experience. Medicine. 2015, 94(37), e1395.
Eurocat. Special Report: Primary Prevention of Congenital Anomalies in European Countries. 2013.
Bestwick P, Huttly J, Morris K et al. Prevention of neural tube defects: a cross-sectional study of the uptake of folic acid supplementation in nearly half a million women. PloS one. 2014, 9(2).
Ayalew Y, Mulat A, Dile M et al. Women’s knowledge and associated factors in preconception care in adet, west gojjam, northwest Ethiopia: a community based cross sectional study. Reproductive health. 2017, 14.1: 15.
Khoshnood B et al. Long term trends in prevalence of neural tube defects in Europe: population based study. Bmj. 2015, 351: h5949.
Wald Nicholas J, Morris JK, Blakemore C. Public health failure in the prevention of neural tube defects: Time to abandon the tolerable upper intake level of folate. Public health reviews. 2018, 39.1: 2.
Greenberg A, Bell J, Guan Y et al. Folic Acid supplementation and pregnancy: more than just neural tube defect prevention. Reviews in obstetrics & gynecology. 2011, 4(2), 52-9.
Blencowe H, Cousens S, Modell B et al. Folic acid to reduce neonatal mortality from neural tube disorders. Intl J Epidemiol. 2010;39:i110-i121.
Castillo-Lancelloti C, Tur JA, Uauy R. Impact of fortification of flour on neural tube defects: a systematic review. Public Health Nutr. 2012;July:1-11.
González-Gross M, Prinz-Langenohl R, Pietrzik K. Folate Status in Germany 1997-2000. Int J Vitam Nutr Res. 2002; 72(6):351-359.
Öner N, Vatansever U, Karasalihoglu S et al. The prevalence of folic acid deficiency among adolescent girls living in Edirne, Turkey. J Adolesc Health. 2006;38:599-606.
Vandevijvere S, Amsalkhir S, Oyen HV et al. Determinants of folate status in pregnant women: results from a national cross-sectional survey in Belgium. Eur J Clin Nutr 2012;66: 1172-1177.
Clarke R, Halsey J, Lewington S. Effects of lowering homocysteine levels with B vitamins on cardiovascular disease, cancer, and cause-specific mortality meta-analysis of 8 randomized trials involving 37,485 individuals. Arch Intern Med. 2010;170(18):1622–31.
Hankey GJ, Eikelboom JW, Lees KR et al. Treatment with B vitamins and incidence of cancer in patients with previous stroke or transient ischemic attack results of a randomized placebo-controlled trial. Stroke. 2012;43(6):1572–7.
Vollset SE, Clarke R, Lewington S et al. (2013) Effects of folic acid supplementation on overall and 621 site-specific cancer incidence during the randomised trails: meta-analyses of data on 50 000 622 individuals. Lancet. 2013; doi: 10.1016/S0140-6736(12)62001-7.
Flynn A, Hiroven T, Mensink GBM et al. Intake of selected nutrients from foods, from fortification, and from supplements in various European countries. Food Nutr Res. 2009;53(1-51).
Troesch B, Hoeft B, McBurney M et al. Dietary surveys indicate vitamin intakes below recommendations are common in representative Western countries. Br J Nutr. 2012;108:(4)692–8.
Viñas BR, Barba LR, Ngo J et al. Projected Prevalence of Inadequate Nutrient Intakes in Europe. Ann Nutr Metab 2011;59:84-95.
Young Park J, Nicolas G, Freisling H et al. Comparison of standardized dietary folate intake across ten countries participating in the European Prospective Investigation into Cancer and Nutrition. Br J Nutr. 2012;108(3):552-569.
Gomes S, Lopes C, Pinto E. Folate and folic acid in the periconceptional period: recommendations from official health organizations in thirty-six countries worldwide and WHO. Public health nutrition. 2016, 19.1: 176-189.
Shawe J et al. Preconception care policy, guidelines, recommendations and services across six European countries: Belgium (Flanders), Denmark, Italy, the Netherlands, Sweden and the United Kingdom. The European Journal of Contraception & Reproductive Health Care. 2015, 20.2: 77-87.
Eurocat and Europlan. Primary Prevention of Congenital Anomalies: Recommendations on Policies to be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases. 2013.
Tort J, Lelong N, Prunet C, et al. Maternal and health care determinants of preconceptional use of folic acid supplementation in France: results from the 2010 National Perinatal Survey. BJOG: An International Journal of Obstetrics & Gynaecology. 2013, 120:1661–7.
Network Italiano Promozione Acido Folico per la Prevenzione Primaria di Difetti Congeniti. Raccomandazione per la riduzione del rischio di difetti congeniti. 2015. Available from: www.iss.it/cnmr .
Looman M, Van den Berg C, Geelen A et al. Supplement Use and Dietary Sources of Folate, Vitamin D, and n-3 Fatty Acids during Preconception: The GLIMP2 Study. Nutrients. 2018, 10(8), 962.
Herrmann W, Obeid R. The mandatory fortification of staple foods with folic acid: a current controversy in Germany. Deutsches Arzteblatt international. 2011, 108(15), 249-54.
Maraschini A, D'Aloja P, Lega I et al. Do Italian pregnant women use periconceptional folate supplementation?. Annali dell'Istituto superiore di sanita. 2017, 53.2: 118-124.
Flores L, Vellozzi C, Valencia D et al. Global Burden of Neural Tube Defects, Risk Factors, and Prevention. Indian journal of community health. 2014, 26(Suppl 1), 3-5.
Blencowe H, Cousens S, Modell B et al. Folic acid to reduce neonatal mortality from neural tube disorders. Intl J Epidemiol. 2010;39:i110-i121.
Castillo-Lancelloti C, Tur JA, Uauy R. Impact of fortification of flour on neural tube defects: a systematic review. Public Health Nutr. 2012;July:1-11.
Grosse SD, Waitzman NJ, Romano PS et al. Reevaluating the Benefits of Folic acid Fortification in the United States: Economic Analysis, Regulation and Public Health. Am J Public Health. 2005;95(11):1917-22.
Jentink J, van de Vrie-Hoekstra N, de Jong-van den Berg L et al. Economic evaluation of folic acid food fortification in the Netherlands. Eur J of Public Health. 2008;18(3):270-4.
Llanos A, Hertrampf E, Cortes F et al. Cost-effectiveness of a folic acid fortification program in Chile. Health Policy. 2007;83:295-303.
Sayed AR, Bourne D, Pattinson R et al. Decline in the Prevalence of Neural Tube Defects Following Folic acid Fortification and Its Cost-Benefit in South Africa. Birth Defects Res A Clin Mol Teratol. 2008;82(4):211-6.
Yi Y, Lindemann M, Colligs A et al. Economic burden of neural tube defects and impact of prevention with folic acid: a literature review. Eur J Pediatr. 2011;170(11):1391-1400.
WHO. Preconception care to reduce maternal and childhood mortality and morbidity. Meeting report and packages of interventions: WHO HQ. 2012.
Regulation (EC) No 1925/2006 of the European Parliament and of the Council of 20 December 2006 on the addition of vitamins and minerals and of certain other substances to foods.
Busby A, Armstrong B, Dolk H et al. Preventing neural tube defects in Europe: A missed opportunity. Reprod Toxicol. 2005; 20(3): 393-402.
Cwernichow S, Noisette N, Blacher J et al. Case for Folic Acid and Vitamin B12 Fortification in Europe. Semin Vasc Med 2005;5(2):156-62.
Pachón H, Kancherla V, Handforth B et al. Folic acid fortification of wheat flour: A cost-effective public health intervention to prevent birth defects in Europe. Nutr Bull. 2013; 308:201-9.
Lamers Y, MacFarlane J, O'Connor L et al. Periconceptional intake of folic acid among low-risk women in Canada: summary of a workshop aiming to align prenatal folic acid supplement composition with current expert guidelines. The American journal of clinical nutrition. 2018, 108(6), 1357-1368.
Williams J, Mai CT, Mulinare J et al. Updated estimates of neural tube defects prevented by mandatory folic Acid fortification - United States, 1995–2011. MMWR. Morbidity and mortality weekly report. 2015, 64:1–5.
Nelson CR, Leon JA, Evans J. The relationship between awareness and supplementation: which Canadian women know about folic acid and how does that translate into use? Can J Public Health. 2014, 105.1: 40-46.
Atta A, Fiest M, Frolkis D et al. Global Birth Prevalence of Spina Bifida by Folic Acid Fortification Status: A Systematic Review and Meta-Analysis. American journal of public health. 2016, 106(1), e24-34.
Министерски съвет. Национален план за действие “Храни и хранене” 2005 – 2010.
Национален център по опазване на общественото здраве. Национално проучване на храненето на кърмачета и малки деца до 5 годишна възраст и отглеждането им в семейството. 2009.
Министерство на здравеопазването. Национален център по опазване на общественото здраве. Национален план за действие “Храни и хранене”, 2005-2010 г. Препоръки за здравословно хранене преди и по времена бременност и при кърмене. 2008.
Министерство на здравеопазването. Наредба № 1 от 22 януари 2018 г. за физиологичните норми за хранене на населението. 2018.
De Boer A, Bast A, Godschalk R. Dietary supplement intake during pregnancy; better safe than sorry?. Regulatory Toxicology and Pharmacology. 2018, 95: 442-447.
Chrysanthopoulou E et al. Mandatory Folic Acid Food Fortification to Prevent Neural Tube Defects: The Pro or Con Debate. American Journal of Internal Medicine. 2018, 6.4: 66-72.
Crider S, Bailey B, Berry J. Folic acid food fortification-its history, effect, concerns, and future directions. Nutrients. 2011, 3(3), 370-84.
El-Shabrawi H, Kamal M, Elhusseini A et al. Folic Acid Intake and Neural Tube Defects: Two Egyptian Centers Experience. Medicine. 2015, 94(37), e1395.
Eurocat. Special Report: Primary Prevention of Congenital Anomalies in European Countries. 2013.
Bestwick P, Huttly J, Morris K et al. Prevention of neural tube defects: a cross-sectional study of the uptake of folic acid supplementation in nearly half a million women. PloS one. 2014, 9(2).
Ayalew Y, Mulat A, Dile M et al. Women’s knowledge and associated factors in preconception care in adet, west gojjam, northwest Ethiopia: a community based cross sectional study. Reproductive health. 2017, 14.1: 15.
Khoshnood B et al. Long term trends in prevalence of neural tube defects in Europe: population based study. Bmj. 2015, 351: h5949.
Wald Nicholas J, Morris JK, Blakemore C. Public health failure in the prevention of neural tube defects: Time to abandon the tolerable upper intake level of folate. Public health reviews. 2018, 39.1: 2.
Greenberg A, Bell J, Guan Y et al. Folic Acid supplementation and pregnancy: more than just neural tube defect prevention. Reviews in obstetrics & gynecology. 2011, 4(2), 52-9.
Blencowe H, Cousens S, Modell B et al. Folic acid to reduce neonatal mortality from neural tube disorders. Intl J Epidemiol. 2010;39:i110-i121.
Castillo-Lancelloti C, Tur JA, Uauy R. Impact of fortification of flour on neural tube defects: a systematic review. Public Health Nutr. 2012;July:1-11.
González-Gross M, Prinz-Langenohl R, Pietrzik K. Folate Status in Germany 1997-2000. Int J Vitam Nutr Res. 2002; 72(6):351-359.
Öner N, Vatansever U, Karasalihoglu S et al. The prevalence of folic acid deficiency among adolescent girls living in Edirne, Turkey. J Adolesc Health. 2006;38:599-606.
Vandevijvere S, Amsalkhir S, Oyen HV et al. Determinants of folate status in pregnant women: results from a national cross-sectional survey in Belgium. Eur J Clin Nutr 2012;66: 1172-1177.
Clarke R, Halsey J, Lewington S. Effects of lowering homocysteine levels with B vitamins on cardiovascular disease, cancer, and cause-specific mortality meta-analysis of 8 randomized trials involving 37,485 individuals. Arch Intern Med. 2010;170(18):1622–31.
Hankey GJ, Eikelboom JW, Lees KR et al. Treatment with B vitamins and incidence of cancer in patients with previous stroke or transient ischemic attack results of a randomized placebo-controlled trial. Stroke. 2012;43(6):1572–7.
Vollset SE, Clarke R, Lewington S et al. (2013) Effects of folic acid supplementation on overall and 621 site-specific cancer incidence during the randomised trails: meta-analyses of data on 50 000 622 individuals. Lancet. 2013; doi: 10.1016/S0140-6736(12)62001-7.
Flynn A, Hiroven T, Mensink GBM et al. Intake of selected nutrients from foods, from fortification, and from supplements in various European countries. Food Nutr Res. 2009;53(1-51).
Troesch B, Hoeft B, McBurney M et al. Dietary surveys indicate vitamin intakes below recommendations are common in representative Western countries. Br J Nutr. 2012;108:(4)692–8.
Viñas BR, Barba LR, Ngo J et al. Projected Prevalence of Inadequate Nutrient Intakes in Europe. Ann Nutr Metab 2011;59:84-95.
Young Park J, Nicolas G, Freisling H et al. Comparison of standardized dietary folate intake across ten countries participating in the European Prospective Investigation into Cancer and Nutrition. Br J Nutr. 2012;108(3):552-569.
Gomes S, Lopes C, Pinto E. Folate and folic acid in the periconceptional period: recommendations from official health organizations in thirty-six countries worldwide and WHO. Public health nutrition. 2016, 19.1: 176-189.
Shawe J et al. Preconception care policy, guidelines, recommendations and services across six European countries: Belgium (Flanders), Denmark, Italy, the Netherlands, Sweden and the United Kingdom. The European Journal of Contraception & Reproductive Health Care. 2015, 20.2: 77-87.
Eurocat and Europlan. Primary Prevention of Congenital Anomalies: Recommendations on Policies to be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases. 2013.
Tort J, Lelong N, Prunet C, et al. Maternal and health care determinants of preconceptional use of folic acid supplementation in France: results from the 2010 National Perinatal Survey. BJOG: An International Journal of Obstetrics & Gynaecology. 2013, 120:1661–7.
Network Italiano Promozione Acido Folico per la Prevenzione Primaria di Difetti Congeniti. Raccomandazione per la riduzione del rischio di difetti congeniti. 2015. Available from: www.iss.it/cnmr .
Looman M, Van den Berg C, Geelen A et al. Supplement Use and Dietary Sources of Folate, Vitamin D, and n-3 Fatty Acids during Preconception: The GLIMP2 Study. Nutrients. 2018, 10(8), 962.
Herrmann W, Obeid R. The mandatory fortification of staple foods with folic acid: a current controversy in Germany. Deutsches Arzteblatt international. 2011, 108(15), 249-54.
Maraschini A, D'Aloja P, Lega I et al. Do Italian pregnant women use periconceptional folate supplementation?. Annali dell'Istituto superiore di sanita. 2017, 53.2: 118-124.
Flores L, Vellozzi C, Valencia D et al. Global Burden of Neural Tube Defects, Risk Factors, and Prevention. Indian journal of community health. 2014, 26(Suppl 1), 3-5.
Blencowe H, Cousens S, Modell B et al. Folic acid to reduce neonatal mortality from neural tube disorders. Intl J Epidemiol. 2010;39:i110-i121.
Castillo-Lancelloti C, Tur JA, Uauy R. Impact of fortification of flour on neural tube defects: a systematic review. Public Health Nutr. 2012;July:1-11.
Grosse SD, Waitzman NJ, Romano PS et al. Reevaluating the Benefits of Folic acid Fortification in the United States: Economic Analysis, Regulation and Public Health. Am J Public Health. 2005;95(11):1917-22.
Jentink J, van de Vrie-Hoekstra N, de Jong-van den Berg L et al. Economic evaluation of folic acid food fortification in the Netherlands. Eur J of Public Health. 2008;18(3):270-4.
Llanos A, Hertrampf E, Cortes F et al. Cost-effectiveness of a folic acid fortification program in Chile. Health Policy. 2007;83:295-303.
Sayed AR, Bourne D, Pattinson R et al. Decline in the Prevalence of Neural Tube Defects Following Folic acid Fortification and Its Cost-Benefit in South Africa. Birth Defects Res A Clin Mol Teratol. 2008;82(4):211-6.
Yi Y, Lindemann M, Colligs A et al. Economic burden of neural tube defects and impact of prevention with folic acid: a literature review. Eur J Pediatr. 2011;170(11):1391-1400.
WHO. Preconception care to reduce maternal and childhood mortality and morbidity. Meeting report and packages of interventions: WHO HQ. 2012.
Regulation (EC) No 1925/2006 of the European Parliament and of the Council of 20 December 2006 on the addition of vitamins and minerals and of certain other substances to foods.
Busby A, Armstrong B, Dolk H et al. Preventing neural tube defects in Europe: A missed opportunity. Reprod Toxicol. 2005; 20(3): 393-402.
Cwernichow S, Noisette N, Blacher J et al. Case for Folic Acid and Vitamin B12 Fortification in Europe. Semin Vasc Med 2005;5(2):156-62.
Pachón H, Kancherla V, Handforth B et al. Folic acid fortification of wheat flour: A cost-effective public health intervention to prevent birth defects in Europe. Nutr Bull. 2013; 308:201-9.
Lamers Y, MacFarlane J, O'Connor L et al. Periconceptional intake of folic acid among low-risk women in Canada: summary of a workshop aiming to align prenatal folic acid supplement composition with current expert guidelines. The American journal of clinical nutrition. 2018, 108(6), 1357-1368.
Williams J, Mai CT, Mulinare J et al. Updated estimates of neural tube defects prevented by mandatory folic Acid fortification - United States, 1995–2011. MMWR. Morbidity and mortality weekly report. 2015, 64:1–5.
Nelson CR, Leon JA, Evans J. The relationship between awareness and supplementation: which Canadian women know about folic acid and how does that translate into use? Can J Public Health. 2014, 105.1: 40-46.
Atta A, Fiest M, Frolkis D et al. Global Birth Prevalence of Spina Bifida by Folic Acid Fortification Status: A Systematic Review and Meta-Analysis. American journal of public health. 2016, 106(1), e24-34.
Министерски съвет. Национален план за действие “Храни и хранене” 2005 – 2010.
Национален център по опазване на общественото здраве. Национално проучване на храненето на кърмачета и малки деца до 5 годишна възраст и отглеждането им в семейството. 2009.
Министерство на здравеопазването. Национален център по опазване на общественото здраве. Национален план за действие “Храни и хранене”, 2005-2010 г. Препоръки за здравословно хранене преди и по времена бременност и при кърмене. 2008.
Министерство на здравеопазването. Наредба № 1 от 22 януари 2018 г. за физиологичните норми за хранене на населението. 2018.
Published
2019-03-28
How to Cite
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Христова Е, Искров Г, Стефанов Р. Преконцепционна употреба на фолиева киселина за първична профилактика на редки генетични заболявания. Редки болести и лекарства сираци [Internet]. 2019Mar.28 [cited 2024Dec.26];10(1):20-5. Available from: https://journal.raredis.org/index.php/RBLS/article/view/66
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