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The Lancet. Global Health Oct 2022
Topics: Folic Acid; Food, Fortified; Humans; Neural Tube Defects
PubMed: 36113523
DOI: 10.1016/S2214-109X(22)00377-1 -
Saudi Medical Journal Dec 2014This review article discusses the epidemiology, risk factors, prenatal screening, diagnosis, prevention potentials, and epidemiologic impact of neural tube defects... (Review)
Review
This review article discusses the epidemiology, risk factors, prenatal screening, diagnosis, prevention potentials, and epidemiologic impact of neural tube defects (NTDs). The average incidence of NTDs is 1/1000 births, with a marked geographic variation. In the developed countries, the incidence of NTDs has fallen over recent decades. However, it still remains high in the less-developed countries in Latin America, Africa, the Middle East, Asia, and the Far East (>1 to 11/1000 births). Recognized NTDs risks include maternal diabetes, obesity, lower socioeconomic status, hyperthermia, and exposure to certain teratogens during the periconceptional period. Periconceptional folic acid supplementation decreased the prevalence of NTDs by 50-70%, and an obligatory folic acid fortification of food was adopted in several countries to reach women with unplanned pregnancies and those facing social deprivation. Prevention of NTDs can be accelerated if more, especially low income countries, adopted fortification of the staple food in their communities.
Topics: Female; Folic Acid; Humans; Infant, Newborn; Neural Tube Defects; Pregnancy; Prenatal Care
PubMed: 25551106
DOI: No ID Found -
The Indian Journal of Medical Research Dec 2017Prenatal testing is the best strategy for reducing the burden of genetic disorders and congenital disabilities that cause significant postnatal functional impairment.... (Review)
Review
Prenatal testing is the best strategy for reducing the burden of genetic disorders and congenital disabilities that cause significant postnatal functional impairment. Universal prenatal screening is advisable for common genetic disorders and congenital anomalies such as Down syndrome, beta-thalassaemia and neural tube defects. Several prenatal-screening tests are now available for Down syndrome, but knowledge about the appropriate timing of the test and the need for pre- and post-test counselling may not be updated among the primary care physicians. There is also a considerable degree of confusion regarding the prenatal screening test to be chosen in each case, due to the availability of a number of new and advanced screening techniques. At present, there is no nation-wide consensus regarding the nature and timing of these prenatal-screening protocols. Due to the absence of any definite guidelines and the additional lacunae in the awareness regarding the appropriate prenatal screening in the country, the optimum benefits of these screening protocols are not reaching the population. This review focuses on the various prenatal screening and diagnostic tests that are available for common genetic conditions and congenital disabilities and attempts to outline the most cost-effective and gestational age-appropriate strategies for prenatal screening for the Indian healthcare set-up. The recommendations suggested would serve as a source guide for formulating prenatal-screening guidelines for reducing the incidence of common genetic disorders and congenital disabilities in India.
Topics: Cost-Benefit Analysis; Down Syndrome; Female; Genetic Testing; Humans; India; Mass Screening; Neural Tube Defects; Pregnancy; Prenatal Diagnosis; beta-Thalassemia
PubMed: 29664026
DOI: 10.4103/ijmr.IJMR_1788_15 -
The American Journal of Clinical... Dec 2023Folate is essential for healthy growth and development. Fortification of foods with folic acid can improve folate status and reduce risk of neural tube defects (NTD)....
BACKGROUND
Folate is essential for healthy growth and development. Fortification of foods with folic acid can improve folate status and reduce risk of neural tube defects (NTD). Following concern around folate status in the United Kingdom, the United Kingdom government announced in 2021 the intention to introduce mandatory folic acid fortification.
OBJECTIVE
This study aimed to describe folate status in the United Kingdom population prior to the implementation of mandatory folic acid fortification of non-whole wheat (non-wholemeal) flour and to assess trends in folate status, including in females of reproductive age (FRA).
METHODS
Data were from the United Kingdom National Diet and Nutrition Survey Rolling Program (2008-2019), a cross-sectional, nationally representative survey of children and adults aged 1.5+ (n = 5792 with folate result). Serum folate concentration was measured by liquid chromatography tandem mass spectrometry (LC-MS/MS) and red blood cell (RBC) folate concentration by microbiological assay. Concentration data were compared against method-specific cut-offs and thresholds, and relationships were explored against demographic and lifestyle characteristics.
RESULTS
RBC and serum folate concentration significantly decreased by ∼3 percentage points per year between 2008 and 2019 in all age/sex groups. Prevalence of deficiency (RBC folate < 305 nmol/L) was highest in children aged 11 to 18 y (17% in 2016-2019). The proportion of FRA below the cut-off for increased risk of NTD (RBC folate < 748 nmol/L) increased from 69% to 89% between 2008 and 2019. Ethnicity, smoking status, and income were significant determinants of RBC and serum folate concentrations.
CONCLUSIONS
These data reveal a decline in population folate status in the United Kingdom between 2008 and 2019 and a high prevalence of folate deficiency. A high proportion of FRA had RBC folate concentrations below the cut-off for increased risk of NTD. These data provide information on folate status in a population not currently exposed to mandatory folic acid fortification and are essential to model and assess its impact.
Topics: Adult; Child; Female; Humans; Folic Acid; Cross-Sectional Studies; Chromatography, Liquid; Tandem Mass Spectrometry; Neural Tube Defects; Diet; Nutrition Surveys; Erythrocytes; Food, Fortified
PubMed: 37839706
DOI: 10.1016/j.ajcnut.2023.10.006 -
Journal of Biomedical Science Aug 2014Maternal exposure to dietary factors during pregnancy can influence embryonic development and may modulate the phenotype of offspring through epigenetic programming.... (Review)
Review
Maternal exposure to dietary factors during pregnancy can influence embryonic development and may modulate the phenotype of offspring through epigenetic programming. Folate is critical for nucleotide synthesis, and preconceptional intake of dietary folic acid (FA) is credited with reduced incidences of neural tube defects in infants. While fortification of grains with FA resulted in a positive public-health outcome, concern has been raised for the need for further investigation of unintended consequences and potential health hazards arising from excessive FA intakes, especially following reports that FA may exert epigenetic effects. The objective of this article is to discuss the role of FA in human health and to review the benefits, concerns and epigenetic effects of maternal FA on the basis of recent findings that are important to design future studies.
Topics: Dietary Supplements; Embryo, Mammalian; Embryonic Development; Epigenesis, Genetic; Female; Folic Acid; Gene Expression Regulation, Developmental; Humans; Incidence; Neural Tube Defects; Pregnancy
PubMed: 25135350
DOI: 10.1186/s12929-014-0077-z -
Ultrasound in Obstetrics & Gynecology :... Mar 2019Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 293-301 Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 302-308 Linked Comment: Ultrasound Obstet Gynecol 2018;...
Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 293-301 Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 302-308 Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 309-313.
Topics: Female; Fetal Therapies; Humans; Neural Tube Defects; Outcome Assessment, Health Care; Pregnancy; Prenatal Diagnosis; Spinal Dysraphism
PubMed: 30835370
DOI: 10.1002/uog.20226 -
WIREs Mechanisms of Disease Sep 2022Neural tube closure (NTC) is crucial for proper development of the brain and spinal cord and requires precise morphogenesis from a sheet of cells to an intact... (Review)
Review
Neural tube closure (NTC) is crucial for proper development of the brain and spinal cord and requires precise morphogenesis from a sheet of cells to an intact three-dimensional structure. NTC is dependent on successful regulation of hundreds of genes, a myriad of signaling pathways, concentration gradients, and is influenced by epigenetic and environmental cues. Failure of NTC is termed a neural tube defect (NTD) and is a leading class of congenital defects in the United States and worldwide. Though NTDs are all defined as incomplete closure of the neural tube, the pathogenesis of an NTD determines the type, severity, positioning, and accompanying phenotypes. In this review, we survey pathogenesis of NTDs relating to disruption of cellular processes arising from genetic mutations, altered epigenetic regulation, and environmental influences by micronutrients and maternal condition. This article is categorized under: Congenital Diseases > Genetics/Genomics/Epigenetics Neurological Diseases > Genetics/Genomics/Epigenetics Neurological Diseases > Stem Cells and Development.
Topics: Epigenesis, Genetic; Folic Acid; Humans; Neural Tube; Neural Tube Defects; Neurulation
PubMed: 35504597
DOI: 10.1002/wsbm.1559 -
BMJ Case Reports Apr 2022Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains...
Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. The parents opted for pregnancy termination and the diagnosis was confirmed postnatally. Besides the lack of folic acid supplementation during preconception, no other risk factor was found. This case highlights the importance of the first-trimester ultrasound in the diagnosis of severe malformations. The right diagnosis is crucial for future prenatal counselling, yet investigation is still required to better understand the aetiology behind neural tube defects and assess the possibility of underlying genetic features, thus enabling better counselling.
Topics: Abortion, Induced; Anencephaly; Female; Fetus; Humans; Neural Tube Defects; Pregnancy; Prenatal Diagnosis
PubMed: 35470163
DOI: 10.1136/bcr-2021-244682 -
The Pan African Medical Journal 2023
Topics: Humans; Spinal Dysraphism; Neural Tube Defects; Magnetic Resonance Imaging
PubMed: 37900200
DOI: 10.11604/pamj.2023.45.168.40974 -
Ecotoxicology and Environmental Safety Apr 2023Metallic elements play a pivotal role in maternal and fetal health. Metals can cross the placental barrier and be absorbed by fetuses, where they may affect closure of... (Review)
Review
Metallic elements play a pivotal role in maternal and fetal health. Metals can cross the placental barrier and be absorbed by fetuses, where they may affect closure of the neural tube during embryonic development. Neural tube defects (NTDs), which result from aberrant closure of the neural tube three to four weeks post-conception, have a multifactorial and complex etiology that combines genetic variants and environmental exposure. Recent advances in population-level association studies have investigated the link between maternal environmental exposure and NTDs, particularly the influence of metals on the incidence of NTDs. Herein, we present a broad and qualitative review of current literature on the association between maternal and prenatal metal exposure via the maternal peripheral blood, amniotic fluid, placenta, umbilical cord, and maternal hair, and the risk of developing NTDs. Specifically, we identify the various aggravating or attenuating effects of metallic exposure on the risk of NTD formation. This review provides novel insights into the association between environmental metals and NTDs and has important applications for NTD prevention and mitigating environmental exposure to metals.
Topics: Humans; Female; Pregnancy; Prenatal Exposure Delayed Effects; Placenta; Neural Tube Defects; Neural Tube; Fetus
PubMed: 36948008
DOI: 10.1016/j.ecoenv.2023.114815