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Neural tube defect and folic acid

Anne Rochtus, Raf Winand, Griet Laenen, Elise Vangeel, Benedetta Izzi, Christine Wittevrongel, Yves Moreau, Carla Verpoorten, Katrien Jansen, Chris Van Geet, Kathleen Freson
BACKGROUND: Neural tube defects (NTDs) are severe congenital malformations that arise from failure of neurulation during early embryonic development. The molecular basis underlying most human NTDs still remains largely unknown. Based on the hypothesis that folic acid prevents NTDs by stimulating methylation reactions, DNA methylation changes could play a role in NTDs. We performed a methylome analysis for patients with myelomeningocele (MMC). Using a candidate CpG analysis for HOX genes, a significant association between HOXB7 hypomethylation and MMC was found...
2016: Clinical Epigenetics
K R Patel, A Sobczyńska-Malefora
Folate is a vital component of a healthy diet, being essential for numerous bodily functions. Deficiency of folate is common, with studies suggesting prevalence of deficiencyas high as 85.5% as was shown in women between the ages of 16 and 49, living in the UK. Causes of folate deficiency range from diet and lifestyle, to pathological and pharmacological processes. Because of the well-known role of folate in prevention of neural tube defects, numerous countries have implemented strategies to increase folate intake, with programs such as mandatory grain fortification...
October 12, 2016: European Journal of Clinical Nutrition
Swapnalee Sarmah, Pooja Muralidharan, James A Marrs
Congenital anomalies, congenital defects, or birth defects are significant causes of death in infants. The most common congenital defects are congenital heart defects (CHDs) and neural tube defects (NTDs). Defects induced by genetic mutations, environmental exposure to toxins, or a combination of these effects can result in congenital malformations, leading to infant death or long-term disabilities. These defects produce significant mortality and morbidity in the affected individuals, and families are affected emotional and financially...
October 7, 2016: Birth Defects Research. Part C, Embryo Today: Reviews
Shona Cawley, Laura Mullaney, Rachel Kennedy, Maria Farren, Daniel McCartney, Michael J Turner
OBJECTIVE: To provide accurate estimates of the commencement time, duration and dosage of folic acid (FA) supplementation taken by Irish women in the periconceptional period. The study also aimed to establish the factors associated with optimal FA supplementation practices. DESIGN: Cross-sectional observational study. Women's clinical and sociodemographic details were computerised. Maternal weight and height were measured before calculating BMI. Detailed FA supplementation questionnaires were completed under the supervision of a trained researcher...
October 5, 2016: Public Health Nutrition
Christine M Pfeiffer, Maya R Sternberg, Heather C Hamner, Krista S Crider, David A Lacher, Lisa M Rogers, Regan L Bailey, Elizabeth A Yetley
BACKGROUND: Folate cutoffs for risk of deficiency compared with possible deficiency were originally derived differently (experimental compared with epidemiologic data), and their interpretations are different. The matching of cutoffs derived from one assay with population-based data derived from another assay requires caution. OBJECTIVE: We assessed the extent of folate-status misinterpretation with the use of inappropriate cutoffs. DESIGN: In the cross-sectional NHANES, serum and red blood cell (RBC) folate were first measured with the use of a radioprotein-binding assay (RPBA) (1988-2006) and, afterwards, with the use of a microbiologic assay (2007-2010)...
September 28, 2016: American Journal of Clinical Nutrition
Rita H Shah, Hope Northrup, James E Hixson, Alanna C Morrison, Kit Sing Au
BACKGROUND: Neural tube defects (NTDs) are one of the most common congenital birth defects, with myelomeningocele (MM) being the most severe form compatible with life. Recent studies show a link between mitochondrial folate one carbon metabolism and NTDs by means of the glycine cleavage system (GCS). We hypothesize that single nucleotide polymorphisms and novel variants in the coding regions of the GCS genes increase the risk for MM. METHODS: DNA was obtained from 96 subjects with MM born before the United States mandated folic acid fortification of grains in 1998...
October 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Wulf Becker, Anna Karin Lindroos, Cecilia Nälsén, Eva Warensjö Lemming, Veronica Öhrvik
BACKGROUND: Dietary intake and nutritional status are important for pregnancy and pregnancy outcomes. Dietary advice on folate, targeted to women of childbearing age, aims at preventing neural tube defects in the offspring. AIM: To describe food and nutrient intake and nutritional status among women of childbearing age in Sweden in relation to current nutrition recommendations. METHODS: Dietary intake was assessed using a web-based four-day consecutive food record among adults aged 18-80 years-'Riksmaten 2010-11 adults'...
August 25, 2016: Upsala Journal of Medical Sciences
Juramt Bold, Hiromi Sakata-Haga, Yoshihiro Fukui
To examine in detail spinal nerve defects induced by prenatal exposure to valproic acid in mice, pregnant ICR mice were subcutaneously injected with a single dose of 400 mg/kg valproic acid on gestational day 6, 7, 8, or 9, and their embryos were observed on gestational day 10. The whole-mount immunostaining using an anti-neurofilament antibody allowed us to identify spinal nerve defects, such as a loss of bundle, anastomosis among bundles arising from adjacent segment, and a disrupted segmental pattern of the dorsal root ganglia, in valproic acid-exposed embryos...
August 22, 2016: Anatomical Science International
Sufang Wang, Xing Ge, Beibei Zhu, Yujie Xuan, Kun Huang, Erigene Rutayisire, Leijing Mao, Sanhuan Huang, Shuangqin Yan, Fangbiao Tao
Supplementation with folic acid (FA) was proven to prevent neural tube defects (NTDs) and was recommended worldwide before and during early pregnancy. However, much less is known regarding the role of FA after the 12th gestational week (GW). This study aimed to investigate the related effects of continued FA supplementation after the first trimester of pregnancy on fetal growth. The study subjects came from the Ma'anshan-Anhui Birth Cohort Study (MABC) that recruited 3474 pregnant women from the city of Ma'anshan in Anhui Province in China during the period of May 2013 to September 2014...
2016: Nutrients
Saba W Masho, Amani Bassyouni, Susan Cha
BACKGROUND: Although adequate folic acid or multivitamins can prevent up to 70 % of neural tube defects, the majority of U.S. non-pregnant women of childbearing age do not use multivitamins every day. Factors influencing consistent multivitamin use are not fully explored. This study aims to investigate the association between pre-pregnancy body mass index (BMI) and multivitamin use before pregnancy using a large, nationally representative sample of women with recent live births. METHODS: The national 2009-2011 Pregnancy Risk Assessment Monitoring System data were analyzed...
2016: BMC Pregnancy and Childbirth
S Akbar, A Anwar, Q Kanwal
Folic acid (FA) is an electroactive compound of biological origin. It helps our body to produce and maintain healthy cells. It can significantly reduce the occurrence of neural tube defects and also prevents change in DNA structure. FA deficiency can lead to various health risks. Therefore, a sensitive, specific, and reproducible way of FA detection is essential. A number of analytical methods are in practice for the quantification of FA. However, electroanalytical methods are attracting much attention because of their advantage over conventional methods, as they are fast, simple, sensitive, and cost effective...
October 1, 2016: Analytical Biochemistry
Adrienne T Hoyt, Mark A Canfield, Paul A Romitti, Lorenzo D Botto, Marlene T Anderka, Sergey V Krikov, Morgan K Tarpey, Marcia L Feldkamp
BACKGROUND: While associations between secondhand smoke and a few birth defects (namely, oral clefts and neural tube defects) have been noted in the scientific literature, to our knowledge, there is no single or comprehensive source of population-based information on its associations with a range of birth defects among nonsmoking mothers. OBJECTIVE: We utilized data from the National Birth Defects Prevention Study, a large population-based multisite case-control study, to examine associations between maternal reports of periconceptional exposure to secondhand smoke in the household or workplace/school and major birth defects...
July 18, 2016: American Journal of Obstetrics and Gynecology
Richard I Lowensohn, Diane D Stadler, Christie Naze
BACKGROUND: A nutrient-rich maternal diet before and during pregnancy is associated with improved fetal health, more appropriate birth weight, and increased rates of maternal and infant survival. Physicians need a better understanding of the role of diet in shaping fetal outcomes. Given this background, we reviewed and summarized articles on maternal nutrition found in MEDLINE since 1981, written in English, and limited to human subjects. FOR THE OFFSPRING: Maternal diets high in sugar and fat lead to an increased incidence of metabolic syndrome, diabetes, and cardiovascular disease later in life...
August 2016: Obstetrical & Gynecological Survey
Annelise Arth, Vijaya Kancherla, Helena Pachón, Sarah Zimmerman, Quentin Johnson, Godfrey P Oakley
BACKGROUND: Spina bifida and anencephaly are two major neural tube defects. They contribute substantially to perinatal, neonatal, infant, and under-five mortality and life-long disability. To monitor the progress toward the total prevention of folic acid-preventable spina bifida and anencephaly (FAP SBA), we examined their global status in 2015. METHODS: Based on existing data, we modeled the proportion of FAP SBA that are prevented in the year 2015 through mandatory folic acid fortification globally...
July 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Roy M Nilsen, Emanuele Leoncini, Paolo Gastaldi, Valentina Allegri, Rocco Agostino, Francesca Faravelli, Federica Ferrazzoli, Enrico Finale, Paolo Ghirri, Gioacchino Scarano, Pierpaolo Mastroiacovo
BACKGROUND: Women in many countries are advised to use folic acid supplements before and early during pregnancy to reduce the risk of neural tube defects in their infants. This study aimed to update the prevalence and to identify possible determinants of preconception folic acid supplement use in Italian women. METHODS: The study was based on cross-sectional data from seven maternity clinics located in six Italian regions from January to June, 2012. Data on maternal characteristics and supplement use were collected for 2,189 women using a self-administered questionnaire...
2016: Italian Journal of Pediatrics
Noam Ami, Mark Bernstein, François Boucher, Michael Rieder, Louise Parker
Periconceptional folic acid significantly reduces the risk of neural tube defects. It is difficult to achieve optimal levels of folate by diet alone, even with fortification of flour, especially because flour consumption in Canada is slightly decreasing. Intermittent concerns have been raised concerning possible deleterious effects of folate supplementation, including the masking of symptoms of vitamin B12 deficiency and an association with cancer, especially colorectal cancer. Both concerns have been disproved...
April 2016: Paediatrics & Child Health
S Cawley, L Mullaney, A McKeating, M Farren, D McCartney, M J Turner
BACKGROUND/OBJECTIVES: The incidence of neural tube defects (NTDs) in Ireland has increased in recent years. This study examines knowledge about folic acid (FA) supplementation for the prevention of NTDs among women presenting for antenatal care. SUBJECTS/METHODS: Women were recruited at their convenience in the first trimester after sonographic confirmation of an ongoing singleton pregnancy. A detailed questionnaire was completed under the supervision of a research dietitian...
June 29, 2016: European Journal of Clinical Nutrition
Gudlavalleti Venkata S Murthy, Sunanda Reddy Kolli, Sutapa B Neogi, Samiksha Singh, Komal Preet Allagh, Neena John, Srinivas N, Sudha Ramani, B R Shamanna, Pat Doyle, Sanjay Kinra, Andy Ness, Dinesh Raj Pallepogula, Hira B Pant, Smiksha Babbar, Raghunath Reddy, Rachna Singh
BACKGROUND: Evidence from high income countries shows mothers who are supplemented with folic acid in their periconceptional period and early pregnancy have significantly reduced adverse outcomes like birth defects. However, in India there is a paucity of data on association of birth defects and folic acid supplementation. We identified a few important questions to be answered using separate scientific methods and then planned to triangulate the information. OBJECTIVE: In this paper, we describe the protocol of our study that aims to determine the association of folic acid and pregnancy outcomes like neural tube defects (NTDs) and orofacial clefts (OFCs)...
2016: JMIR Research Protocols
Nicholas D E Greene, Kit-Yi Leung, Andrew J Copp
Susceptibility to neural tube defects (NTDs), such as anencephaly and spina bifida is influenced by genetic and environmental factors including maternal nutrition. Maternal periconceptional supplementation with folic acid significantly reduces the risk of an NTD-affected pregnancy, but does not prevent all NTDs, and "folic acid non-responsive" NTDs continue to occur. Similarly, among mouse models of NTDs, some are responsive to folic acid but others are not. Among nutritional factors, inositol deficiency causes cranial NTDs in mice while supplemental inositol prevents spinal and cranial NTDs in the curly tail (Grhl3 hypomorph) mouse, rodent models of hyperglycemia or induced diabetes, and in a folate-deficiency induced NTD model...
June 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Vineet Mohanty, Amar Shah, Elise Allender, M Rizwan Siddiqui, Sarah Monick, Shunsuke Ichi, Barbara Mania-Farnell, David G McLone, Tadanori Tomita, Chandra Shekhar Mayanil
Prenatal folic acid (FA) supplementation prevents neural tube defects. Folate receptor alpha (FRα) is critical for embryonic development, including neural crest (NC) development. Previously we showed that FRα translocates to the nucleus in response to FA, where it acts as a transcription factor. In this study we examined if FA through interaction with FRα regulates stem cell characteristics of cranial neural crest cells (CNCCs)-critical for normal development. We hypothesized that FRα up-regulates coding genes and simultaneously down-regulates non-coding miRNA which targets coding genes in CNCCs...
June 14, 2016: Stem Cells
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