scholarly journals Maternal Lactase Polymorphism (rs4988235) Is Associated with Neural Tube Defects in Offspring in the National Birth Defects Prevention Study

2019 ◽  
Vol 149 (2) ◽  
pp. 295-303 ◽  
Author(s):  
Thanh T Hoang ◽  
Yunping Lei ◽  
Laura E Mitchell ◽  
Shreela V Sharma ◽  
Michael D Swartz ◽  
...  

ABSTRACTBackgroundThe risk of neural tube defect (NTD)–affected pregnancies is reduced with adequate folic acid intake during early pregnancy. However, NTDs have been observed among offspring of women with adequate folic acid intake. Some of these women are possibly not absorbing enough folic acid. Because lactase deficiency can lead to poor nutrient absorption, we hypothesized that lactase-deficient women will be at increased risk of having offspring with NTDs.ObjectiveWe examined the association between maternal rs4988235 (a lactase deficiency genetic marker) and NTDs in offspring.MethodsWe conducted a case-control study using data from the National Birth Defects Prevention Study, United States, 1997–2009, restricting to non-Hispanic white (NHW) and Hispanic women. Cases were women with an offspring with an NTD (n = 378 NHW, 207 Hispanic), and controls were women with an offspring without a birth defect (n = 461 NHW, 165 Hispanic). Analyses were conducted separately by race/ethnicity, using logistic regression. Women with the CC genotype were categorized as being lactase deficient. To assess potential effect modification, analyses were stratified by lactose intake, folic acid supplementation, dietary folate, and diet quality.ResultsAmong NHW women, the odds of being lactase deficient were greater among cases compared with controls (OR: 1.37; 95% CI: 1.02, 1.82). Among Hispanic women, the odds of being lactase deficient were significantly lower among cases compared with controls (OR: 0.50, 95% CI: 0.33, 0.77). The association differed when stratified by lactose intake in NHW women (higher odds among women who consumed ≥12 g lactose/1000 kcal) and by dietary folate in Hispanic women (opposite direction of associations). The association did not differ when stratified by folic acid supplementation or diet quality.ConclusionsOur findings suggest that maternal lactase deficiency is associated with NTDs in offspring. However, we observed opposite directions of effect by race/ethnicity that could not be definitively explained.

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
V A Postoev ◽  
L I Menshikova ◽  
A A Usynina ◽  
A M Grjibovski ◽  
J O Odland

Abstract Introduction Periconceptional use of folic acid supplementation is an evidence-based measure of birth defects prevention. The study was aimed to assess effect of periconceptual use of folic acid on birth defect prevalence in Arkhangelsk county and to investigate socio-demographic factors, which are associated with adherence to this preventive measure. Methods A registry-based study was conducted with data from the Arkhangelsk County Birth Registry for 2012-2015. The study population included 57084 pregnancies to calculate the proportion of women taking folic acid and 53340 pregnancy outcomes without missing data to analyze related socio-demographic characteristics. Results The proportion of women followed a folic acid supplementation before pregnancy was 1.3% (95% CI: 1.2-1.4), during pregnancy - 55.8% (95%CI: 54.6-56.4). Such women had less risk to deliver a newborn with any birth defects (OR = 0,84, 95%CI: 0,75 - 0,95). Considering birth defects prevalence of 38,6 per 1000 newborns in Arkhangelsk county, number needed to prevent one case of birth defect was 142,9. Based on multivariate analysis, nulliparous married women with higher education, aged 30 or more, had a higher chance to use folic acid before and during pregnancy. The history of spontaneous abortion in the mother's medical history and the first pregnancy were negatively associated with the probability of folic acid intake both before and during pregnancy. Conclusions The compliance to periconceptional intake of folic acid among women in the region was low. A level of compliance was associated with such socio-demographic factors as age, education, marital status, gravidity and parity. The findings have direct applications in improving prenatal care in Arkhangelsk county and establishing targets for prenatal counseling. Key messages A level of compliance to primary prevention of birth defects is associated with such socio-demographic factors as age, education, marital status, gravidity and parity. Prenatal counseling in terms of birth defects prevention should be based on socio-demographic characteristics of pregnant women.


2019 ◽  
Vol 57 (6) ◽  
pp. 678-686
Author(s):  
Vivienne J. Mendonca

Background: Orofacial clefts are the most common congenital anomaly worldwide. Cleft etiology appears to be multifactorial, with genetic and environmental components. Although periconceptional folic acid supplementation has been shown to be protective for neural tube defects, current evidence for its role in cleft prevention is mixed with few studies from low- and middle-income countries. Aim: To investigate the association between periconceptional folic acid intake and incidence of nonsyndromic orofacial clefts among infants in Bangalore, India. Methods: A hospital-based case–control study (106 cases, 212 controls) utilizing a questionnaire to collect data on prenatal supplements, dietary folate, and potentially confounding factors. Multivariate logistic regression analysis was used to assess relationships between folic acid supplementation and all nonsyndromic clefts, and in separate analyses for cleft lip and/or palate (CL/P) and cleft palate (CP), adjusting for statistically significant variables. Results: A statistically significant protective association was found for separate folic acid supplements (not combined with iron or multivitamins) taken in the periconceptional period and all clefts combined (adjusted odds ratio [OR]: 0.62, 95% confidence interval [CI], 0.45-0.86) and CL/P (adjusted OR: 0.57; 95% CI, 0.38-0.86). Higher levels of dietary folate were found to be associated with a reduced risk for all clefts (adjusted OR: 0.98, 95% CI, 0.96-0.99), CL/P (adjusted OR: 0.98, 95% CI, 0.96-0.99), and CP (adjusted OR: 0.96, 95% CI, 0.93-0.99). Conclusion: This study provides limited evidence for a protective association of periconceptional folic acid supplementation with nonsyndromic orofacial clefts. The low proportion of mothers taking folic acid supplements in the periconceptional period highlights the need for increased education and awareness regarding prenatal nutrition.


2009 ◽  
Vol 12 (9) ◽  
pp. 1548-1555 ◽  
Author(s):  
Kathleen Hennessy-Priest ◽  
Jill Mustard ◽  
Heather Keller ◽  
Lee Rysdale ◽  
Joanne Beyers ◽  
...  

AbstractObjectiveFolic acid food fortification has successfully reduced neural tube defect-affected pregnancies across Canada. The effect of this uncontrolled public health intervention on folate intake among Canadian children is, however, unknown. Our objectives were to determine folic acid intake from food fortification and whether fortification promoted adequate folate intakes, and to describe folic acid-fortified food usage among Ontario preschoolers.DesignCross-sectional data were used from the NutriSTEP™ validation project with preschoolers recruited using convenience sampling. Mean daily total folate and folic acid intakes were estimated from 3 d food records, which included multivitamin supplement use. Comparisons were made to Dietary Reference Intakes, accounting for and excluding fortificant folic acid, to determine the prevalence of inadequate and excessive intakes.SettingCanada.SubjectsTwo hundred and fifty-four preschoolers (aged 3–5 years).ResultsAll participants (130 girls, 124 boys) ate folic acid-fortified foods and 30 % (n76) used folic acid-containing supplements. Mean (se) fortificant folic acid intake was 83 (2) μg/d, which contributed 30 % and 50 % to total folate intake for supplement users and non-users, respectively. The prevalence of total folate intakes below the Estimated Average Requirement was <1 %; however, excluding fortificant folic acid, the prevalence was 32 %, 54 % and 47 % for 3-, 4- and 5-year-olds, respectively. The overall prevalence of folic acid (fortificant and supplemental) intakes above the Tolerable Upper Intake Level was 2 % (7 % among supplement users).ConclusionsFolic acid food fortification promotes dietary folate adequacy and did not appear to result in excessive folic acid intake unless folic acid-containing supplements were consumed.


2021 ◽  
pp. oemed-2021-107561
Author(s):  
Miriam R Siegel ◽  
Carissa M Rocheleau ◽  
Kendra Broadwater ◽  
Albeliz Santiago-Colón ◽  
Candice Y Johnson ◽  
...  

ObjectiveNail technicians and hairdressers may be exposed to chemicals with potential reproductive effects. While studies have examined birth defects in children of hairdressers, those in children of nail technicians have not been evaluated. We investigated associations between selected birth defects and maternal occupation as a nail technician or hairdresser versus a non-cosmetology occupation during pregnancy.MethodsWe analysed population-based case–control data from the multisite National Birth Defects Prevention Study, 1997–2011. Cases were fetuses or infants with major structural birth defects; controls were live-born infants without major birth defects. Expert raters classified self-reported maternal jobs as nail technician, combination nail technician-hairdresser, hairdresser, other cosmetology work or non-cosmetology work. We used logistic regression to calculate adjusted ORs and 95% CIs for associations between occupation during pregnancy and birth defects, controlling for age, smoking, education and race/ethnicity.ResultsSixty-one mothers worked as nail technicians, 196 as hairdressers, 39 as combination nail technician-hairdressers and 42 810 as non-cosmetologists. The strongest associations among nail technicians included seven congenital heart defect (CHD) groups (ORs ranging from 2.7 to 3.5) and neural tube defects (OR=2.6, CI=0.8 to 8.4). Birth defects most strongly associated with hairdressing included anotia/microtia (OR=2.1, CI=0.6 to 6.9) and cleft lip with cleft palate (OR=2.0, CI=1.1 to 3.7). All oral cleft groups were associated with combination nail technician-hairdresser work (ORs ranging from 4.2 to 5.3).ConclusionsSmall samples resulted in wide CIs. Still, results suggest associations between maternal nail technician work during pregnancy and CHDs and between hairdressing work and oral clefts.


2019 ◽  
Vol 34 (4) ◽  
pp. 256-264
Author(s):  
Adel B Mohamed ◽  
Azza M Ali ◽  
Samia A Magid

There is a recent rise in the number of birth defects. This could be related to folic acid deficiency. Folic acid, as an antioxidant, is an important factor in preventing birth defects during embryonic development. This study, via content uniformity measurements and medical history, aimed to investigate the role of folic acid before and during pregnancy and to measure the content uniformity of different brands of folic acid tablets. The statistical study aimed to determine the relationship between folic acid consumption, miscarriage, and anomalies in newborn babies. The study studied a sample of 300 women based on their medical records. There was no significant effect (p-value = 0.143) of folic acid consumption on the frequency of anomalies. On the other hand, there was a high significant relation (p-value = 0.003) between folic acid consumption and miscarriage. The correlation, principally with miscarriage, coincides with previous studies and highlights the importance of folic acid supplementation before and during gestation. Content uniformity measurements were made on three famous folic acid brands (Folic Acid-Nile, Folicum-Julphar and Wockhardt-UK) available at local pharmacies. Measurements on the three folic acid brands were conducted in compliance with the British Pharmacopoeia (BP) (2010) test for content uniformity. Ten tablets from each brand were tested using the UV spectrophotometric method. The results showed that only the first brand name passed the content uniformity test, while the other two brands did not comply with the standards. This result highlights the problem of under-dosing in commercially available folic acid dosage forms, and identifies the need for taking action towards the implementation of quality control on all medical drugs.  


2019 ◽  
Vol 23 (11) ◽  
pp. 1965-1973
Author(s):  
Huaqi Guo ◽  
Baohong Mao ◽  
Meng Wang ◽  
Qing Liu ◽  
Liping Yang ◽  
...  

AbstractObjective:To investigate the hypothesis that folic acid supplementation and dietary folate intake before conception and during pregnancy reduce the risk of small for gestational age (SGA) and to examine the joint effect of folic acid supplementation and dietary folate intake on the risk of SGA.Design:Participants were interviewed by trained study interviewers using a standardized and structured questionnaire. Information on birth outcomes and maternal complications was abstracted from medical records and dietary information was collected via a semi-quantitative FFQ before conception and during pregnancy.Setting:A birth cohort data analysis using the 2010–2012 Gansu Provincial Maternity and Child Care Hospital.Participants:Women (n 8758) and their children enrolled in the study.Results:Folic acid supplementation was associated with a reduced risk of SGA (OR = 0·72, 95 % CI 0·60, 0·86), with the reduced risk seen mainly for SGA at ≥37 weeks of gestational age (OR = 0·70, 95 % CI 0·58, 0·85) and nulliparous SGA (OR = 0·67, 95 % CI 0·54, 0·84). There was no significant association between dietary folate intake and SGA risk.Conclusions:Our study suggested that folic acid supplementation was associated with a reduced risk of SGA and the risk varied by preterm status and parity.


2014 ◽  
Vol 100 (6) ◽  
pp. 472-482 ◽  
Author(s):  
Zeina G. Khodr ◽  
Philip J. Lupo ◽  
A.J. Agopian ◽  
Mark A. Canfield ◽  
Amy P. Case ◽  
...  

2011 ◽  
Vol 158A (1) ◽  
pp. 109-115 ◽  
Author(s):  
A.J. Agopian ◽  
Mark A. Canfield ◽  
Richard S. Olney ◽  
Philip J. Lupo ◽  
Tunu Ramadhani ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document