Antonarakis, S.E. and Down Syndrome Collaborative Group* (1991) Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. N Engl J Med 324(13):872–876
Article
Google Scholar
Biselli PM, Guerzoni AR, de Godoy MF, Eberlin MN, Haddad R, Carvalho VM, Goloni-Bertollo EM (2010) Genetic polymorphisms involved in folate metabolism and concentrations of methylmalonic acid and folate on plasma homocysteine and risk of coronary artery disease. J Thromb Thrombolysis 29(1):32
Article
CAS
Google Scholar
Asim A, Agarwal S, Panigrahi I, Saiyed N, Bakshi S (2017) MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome. Intractable & rare diseases research 6(4):295–298
Article
Google Scholar
Fenech M (2001) The role of folic acid and vitamin B12 in genomic stability of human cells. Mutat Res Fund Mol Mech Mut 475(1):57–67
Article
CAS
Google Scholar
Robertson L, Wu O, Langhorne P, Twaddle S, Clark P, Lowe GDO, Greer IA (2006) Thrombophilia in pregnancy: a systematic review. Br J Haematol 132(2):171–196
Article
CAS
Google Scholar
Visternicean E (2017) Homocysteine and recurrent miscarriage. Mold Med J 60(1):15–19
Google Scholar
Cyril C, Rai P, Chandra N, Gopinath PM, Satyamoorthy K (2009) MTHFR Gene variants C677T, A1298C and association with Down syndrome: a case-control study from South India. Indian J Hum Genet 15(2):60
Article
CAS
Google Scholar
Fenech M (2000) The in vitro micronucleus technique. Mutat Res Fund Mol Mech Mut 455(1-2):81–95
Article
CAS
Google Scholar
Coppedè F, Marini G, Bargagna S, Stuppia L, Minichilli F, Fontana I, Colognato R, Astrea G, Palka G, Migliore L (2006) Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. Am J Hum Genet Part A 140(10):1083–1091
Article
Google Scholar
James SJ, Pogribna M, Pogribny IP, Melnyk S, Hine RJ, Gibson JB, Yi P, Tafoya DL, Swenson DH, Wilson VL, Gaylor DW (1999) Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 70(4):495–501
Article
CAS
Google Scholar
Shawky RM, Elsobky E, Elsayed SM, Kamal H, Eðin Y, Akar N (2009) Maternal risk factors in young Egyptian mothers of Down syndrome. Egypt J Med Hum Genet. 10:2
Google Scholar
Mohanty PK, Kapoor S, Dubey AP, Pandey S, Shah R, Nayak HK, Polipalli SK (2012) Evaluation of C677T polymorphism of the methylenetetra hydrofolate reductase gene and its association with levels of serum homocysteine, folate, and vitamin B12 as maternal risk factors for Down syndrome. Indian J Hum Genet 18(3):285
Article
CAS
Google Scholar
Puri M, Kaur L, Walia GK, Mukhopadhhyay R, Sachdeva MP, Trivedi SS, Ghosh PK, Saraswathy KN (2013) MTHFR C677T polymorphism, folate, vitamin B12 and homocysteine in recurrent pregnancy losses: a case control study among North Indian women. J Perinat Med 41(5):549–554
CAS
PubMed
Google Scholar
Sukla KK, Jaiswal SK, Rai AK, Mishra OP, Gupta V, Kumar A, Raman R (2015) Role of folate-homocysteine pathway gene polymorphisms and nutritional cofactors in Down syndrome: a triad study. Hum Reprod 30(8):1982–1993
Article
CAS
Google Scholar
Kaur A, Kaur A (2013) Prevalence of methylenetetrahydrofolate reductase 677 CT polymorphism among mothers of Down syndrome children. Indian J Hum Genet 19(4):412
Article
CAS
Google Scholar
Allen EG, Freeman SB, Druschel C, Hobbs CA, O’Leary LA, Romitti PA, Sherman SL (2009) Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet. 125(1):41–52
Article
Google Scholar
Silva-Grecco RL, Navarro GC, Cruz RM, Balarin MAS (2012) Micronucleated lymphocytes in parents of Down syndrome children. Braz J Med Biol Res 45(7):573–577
Article
CAS
Google Scholar
Ford JH (1984) Spindle microtubular dysfunction in mothers of Down syndrome children. Hum genet. 68(4):295–298
Article
CAS
Google Scholar
Beetstra S, Thomas P, Salisbury C, Turner J, Fenech M (2005) Folic acid deficiency increases chromosomal instability, chromosome 21 aneuploidy and sensitivity to radiation-induced micronuclei. Mutat Res Fund Mol Mech Mut 578(1-2):317–326
Article
CAS
Google Scholar
Migliore L et al (2009) Susceptibility to aneuploidy in young mothers of Down syndrome children. Sci World J 9:1052–1060
Article
Google Scholar
Bull CF, Mayrhofer G, Zeegers D et al (2012) Folate deficiency is associated with the formation of complex nuclear anomalies in the cytokinesis-block micronucleus cytome assay. Environ. Mol. Mutagen. 53:311–323
Article
CAS
Google Scholar
Lazalde-Ramos BP, Zamora-Perez AL, Sosa-Macias M et al (2012) DNA and oxidative damages decrease after ingestion of folic acid in patients with type 2 diabetes. Arch Med Res. 43:476–481
Article
CAS
Google Scholar
Nair RR, Khanna A, Singh R, Singh K (2013) Association of maternal and fetal MTHFR A1298C polymorphism with the risk of pregnancy loss: a study of an Indian population and a meta-analysis. Fertil Steril 99(5):1311–1318
Article
CAS
Google Scholar
Ronnenberg AG, Goldman MB, Chen D, Aitken IW, Willett WC, Selhub J, Xu X (2002) Preconception homocysteine and B vitamin status and birth outcomes in Chinese women. Am J Clin Nutr 76(6):1385–1391
Article
CAS
Google Scholar
George L, Mills JL, Johansson AL, Nordmark A, Olander B, Granath F, Cnattingius S (2002) Plasma folate levels and risk of spontaneous abortion. JAMA 288(15):1867–1873
Article
CAS
Google Scholar
Wang XU, Thomas P, Xue J, Fenech M (2004) Folate deficiency induces aneuploidy in human lymphocytes in vitro—evidence using cytokinesis-blocked cells and probes specific for chromosomes 17 and 21. Mutat Res Fund Mol Mech Mut 551(1):167–180
Article
CAS
Google Scholar
Ueland PM, Hustad S, Schneede J et al (2001) Biological and clinical implications of the MTHFR C677T polymorphism. Trends Pharmacol Sci 22:195–201
Article
CAS
Google Scholar
Brandalize APC, Bandinelli E, dos Santos PA, Roisenberg I, Schüler-Faccini L (2009) Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects. Am J Hum Genet Part A 149(10):2080–2087
Article
Google Scholar
Verma IC (2000) Burden of genetic disorders in India. Indian J Pediatr 67(12):893–898
Article
CAS
Google Scholar
Van der Linde D, Konings EE, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJ, Roos-Hesselink JW (2011) Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol 58(21):2241–2247
Article
Google Scholar
Pathak P, Kapil U, Yajnik CS, Kapoor SK, Dwivedi SN, Singh R (2007) Iron, folate, and vitamin B12 stores among pregnant women in a rural area of Haryana State, India. Food Nutr Bull. 28(4):435–438
Article
Google Scholar
Yajnik C, Deshpande SS, Lubree HG, Naik SS, Bhat DS, Uradey BS, Deshpande JA, Rege SS, Refsum H, Yudkin JS (2006) Vitamin B12 deficiency and hyperhomocysteinemia in rural and urban Indians. J Assoc Physicians India 54(775):82
Google Scholar
Botto LD, Mulinare J, Erickson JD (2000) Occurrence of Congenital Heart Defects in Relation to Maternal Multivitamin Use. Am J Epidemiol 151(9):878–884
Article
CAS
Google Scholar
Ionescu-Ittu R, Marelli AJ, Mackie AS, Pilote L (2009) Prevalence of severe congenital heart disease after folic acid fortification of grain products: time trend analysis in Quebec, Canada. Br Med J 338:b1673
Article
Google Scholar
Serra-Juhé C, Cuscó I, Homs A, Flores R, Torán N, Pérez-Jurado LA (2015) DNA methylation abnormalities in congenital heart disease. Epigenet 10(2):167–177
Article
Google Scholar
Kaplan M, Beutler E, Vreman HJ, Hammerman C, Levy-Lahad E, Renbaum P, Stevenson DK (1999) Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes. Pediatr. 104(1):68–74
Article
CAS
Google Scholar
Pan Y, Zhang W, Ma J, Du Y, Li D, Cai Q, Jiang H, Wang M, Zhang Z, Wang L (2012) Infants’ MTHFR polymorphisms and nonsyndromic orofacial clefts susceptibility: a meta-analysis based on 17 case–control studies. Am J Hum Genet Part A 158(9):2162–2169
Article
CAS
Google Scholar
Timmermans S, Jaddoe VW, Hofman A, Steegers-Theunissen RP, Steegers EA (2009) Periconception folic acid supplementation, fetal growth and the risks of low birth weight and preterm birth: the Generation R Study. Br J Nutr 102(5):777–785
Article
CAS
Google Scholar
Williams PJ, Bulmer JN, Innes BA et al (2011) Possible roles for folic acid in the regulation of trophoblast invasion and placental development in normal early human pregnancy. Biol Reprod 84(6):1148–1153
Article
CAS
Google Scholar
Goldenberg RL, Hauth JC, Andrews WW (2000) Intrauterine infection and preterm delivery. N Engl J Med 342(20):1500–1507
Article
CAS
Google Scholar
Steegers EA, Von Dadelszen P, Duvekot JJ et al (2010) Pre-eclampsia. Lancet 376(9741):631–644
Article
Google Scholar
Di Simone N, Maggiano N, Caliandro D, Riccardi P, Evangelista A, Carducci B, Caruso A (2003) Homocysteine induces trophoblast cell death with apoptotic features. Biol Reprod 69(4):1129–1134
Article
Google Scholar
Nurk E, Tell GS, Refsum H, Ueland PM, Vollset SE (2004) Associations between maternal methylenetetrahydrofolate reductase polymorphisms and adverse outcomes of pregnancy: the Hordaland Homocysteine Study. Am J Med. 117(1):26–31
Article
CAS
Google Scholar
Chen LW, Lim AL, Colega M, Tint MT, Aris IM, Tan CS, Chong YS, Gluckman PD, Godfrey KM, Kwek K, Saw SM (2014) Maternal Folate Status, but Not That of Vitamins B-12 or B-6, Is Associated with Gestational Age and Preterm Birth Risk in a Multiethnic Asian Population, 2. J Nutr 145(1):113–120
Article
Google Scholar
Rogne T, Tielemans MJ, Chong MFF, Yajnik CS, Krishnaveni GV, Poston L, Jaddoe VW, Steegers EA, Joshi S, Chong YS, Godfrey KM (2017) Associations of maternal vitamin B12 concentration in pregnancy with the risks of preterm birth and low birth weight: a systematic review and meta-analysis of individual participant data. Am J Epidemiol. 185(3):212–223
PubMed
PubMed Central
Google Scholar
United Nations Children’s Fund and World Health Organization (2004) Low birthweight: country, regional and global estimates. UNICEF, New York
Google Scholar