Risk Factors of Neural Tube Defects in a Sample of Iranian Population From Southern Iran: A Hospital-based Investigation

2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 117-124
Author(s):  
Mohammad Sadegh Masoudi ◽  
◽  
Negin Hadi ◽  
Fariborz Ghaffarpasand ◽  
Mohammadreza Askarpour ◽  
...  

Background and Aim: The risk factors of the Neural Tube Defects (NTD) have been previously described but there are ethnic and geographical variations. Data from the Iranian population is still scarce. The objective of the current study was to investigate the NTDs risk factors in a large sample of Iranian patients admitted to a single center.  Methods and Materials/Patients: This case-control study was performed within five years from 2012 to 2017 in Namazi Hospital of Shiraz, a tertiary referral center for neonatal anomalies in the south of Iran. One hundred newborns with NTDs were included in the study as the case group and 200 healthy newborns as the control group. We recorded the baseline characteristics including the maternal variables (age, weight, height, previous pregnancy and gravidity, gestational age), newborn information (birth weight, clinical diagnosis, clinical findings in the examination, and clinical findings in radiologic test) and medical history of the perinatal period. Results: The baseline characteristics of the mothers were matched in both groups. NTDs were associated with lower folic acid intake during pregnancy (66% vs. 78%; P=0.030; OR 95% CI=1.82) and before pregnancy (P=0.002; OR95% CI=2.36). The prevalence of NTD was significantly higher in patients who lived in hot climates (P=0.001). Conclusion: Taking adequate folic acid supplements before and during pregnancy can reduce the risk of NTDs in the Iranian population. Hot climate zones were associated with an increased risk of NTDs in Iran.

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Abel Gedefaw ◽  
Sisay Teklu ◽  
Birkneh Tilahun Tadesse

There is scarcity of data on prevalence of neural tube defects (NTDs) in lower-income countries. Local data are important to understand the real burden of the problem and explore risk factors to design and implement preventive approaches. This study aimed to determine prevalence and risk factors of NTDs. A hospital-based cross-sectional and unmatched case-control study was conducted at three teaching hospitals of Addis Ababa University. NTDs were defined as cases of anencephaly, spina bifida, and encephalocele based on ICD-10 criteria. The prevalence of NTDs was calculated per 10,000 births for both birth and total prevalence. During seven months, we observed 55 cases of NTDs out of 8677 births after 28 weeks of gestation—birth prevalence of 63.4 per 10,000 births (95% confidence interval (CI), 51–77). A total of 115 cases were medically terminated after 12 weeks of gestation. Fifty-six of these terminations (48.7%) were due to NTDs. Thus, total prevalence of NTDs after 12 weeks’ gestation is 126 per 10,000 births (95% CI, 100–150). Planned pregnancy (adjusted odds ratio (aOR), 0.47; 95% CI, 0.24–0.92), male sex (aOR, 0.56; 95% CI, 0.33–0.94), normal or underweight body mass index (aOR, 0.49; 95%, 0.29–0.95), and taking folic acid or multivitamins during first trimester (aOR, 0.47; 95%, 0.23–0.95) were protective of NTDs. However, annual cash family income less than $1,300 USD (aOR, 2.5; 95%, 1.2–5.5), $1,300–1,800 USD (aOR, 2.8; 95%, 1.3–5.8), and $1,801–2,700 USD (aOR, 2.6; 95%, 1.2–5.8) was found to be risk factors compared to income greater than $2,700 USD. The prevalence of NTDs was found to be high in this setting. Comprehensive preventive strategies focused on identified risk factors should be urgently established. More studies on prevention strategies, including folic acid supplementations, should be conducted in the setting.


Author(s):  
Н.М. Алдашева ◽  
Э.М. Мамбетсадыкова ◽  
Э.Т. Талайбекова ◽  
С.Дж. Боконбаева ◽  
Х.М. Сушанло ◽  
...  

Цель. Изучить ассоциацию полиморфных локусов С677Т и А1298С гена MTHFR с развитием дефектов нервной трубки (ДНТ) у детей киргизской национальности. Методы. В исследование включены 76 детей и их матери. В основную группу вошли 30 детей с пороками невральной трубки, чаще всего в виде изолированной спиномозговой грыжи или в сочетании с другими врожденными пороками развития, а также их матери. 46 детей без ДНТ и их матери составили контрольную группу. Идентификация генотипов полиморфных локусов С677Т и А1298С гена MTHFR проводилась методом анализа полиморфизма длин рестрикционных фрагментов (ПДРФ). Результаты. При анализе распределения генотипов и аллелей полиморфизма А1298С гена MTHFR выявлено, что среди детей с ДНТ статистически значимо чаще встречались гетерозиготный генотип А1298С (χ²=9,67; р=0,0079) и аллель 1298С (χ²=4,17; р=0,04). При наличии генотипа А1298С риск развития ДНТ повышается в 4,71 раза (OR=4,71; p=0,0079), а при наличии аллеля 1298С - в 2,2 раза (OR=2,20; p=0,04). Полиморфный локус С677Т гена MTHFR самостоятельно не был ассоциирован с ДНТ, однако гетерозиготность по двум полиморфным аллелям ассоциирована с ДНТ (χ²=5,60; p=0,018) и существенно повышает относительный риск развития ДНТ (OR=9,75; p=0,018). Заключение. У детей киргизской национальности полиморфный локус А1298С гена MTHFR ассоциирован с развитием дефекта нервной трубки. Комбинированная гетерозиготность (С677Т/А1298С) по обоим полиморфизмам является дополнительным отягощающим фактором. Aim. The aim of the study was to investigated whether polymorphisms С677Т and А1298С of the MTHFR gene are associated with neural tube defects (NTDs) in the Kyrgyz population. Methods. The study included 76 children and their mothers. The study group included 30 children and their mothers, where the child had a neural tube defect, most commonly in the form of an isolated spina bifida or in combination with congenital anomalies. Control group - 46 children without congenital malformations. С677Т and А1298С polymorphisms analysis in the MTHFR gene were performed by PCR-RFLP method. Results. The frequency of the heterozygous A1298C genotype (χ²=9,67; p=0,0079) and 1298C allele (χ²=4,10; p=0,041) of the MTHFR gene was higher in cases than in controls. Child with heterozygous A1298C genotype had a 4,71- fold (OR=4,71; p=0,0079) higher risk of NTDs when compared with those who had the AA genotype. Child carriers of the 1298C allele had a 2,2-fold higher risk of NTDs (OR=2,20; p=0,041). С677Т/А1298С genotypes are more frequent among cases than controls (χ²=5,00; p=0,025). We showed that the combinations of С677Т/А1298С is strong association with NTDs (χ²=5,60; p=0,018). Subjects carriers of the combinations of С677Т/А1298С genotypes had a significant 9,7-fold higher risk of NTDs (OR=9,75; p=0,018). Conclusion. There is significant association between С677Т and А1298С polymorphism in MTHFR gene and neural tube defects in the Kyrgyz population. An increased risk of neural tube defects associated with heterozygous A1298C genotype, 1298C allele and combinations of С677Т/А1298С in MTHFR gene.


2017 ◽  
Vol 24 (12) ◽  
pp. 1878-1883
Author(s):  
Nadeem Shahzad ◽  
Afshan Riaz ◽  
Uzma Ameer ◽  
Daniyal Nadeem

Background: The most common congenital malformations are Neural tubedefects (NTDs) occurring in 0.6 per 1,000 live births in the United States, and almost 4000pregnancies are recorded of babies with neural tube defects, among them anencephalyand Spina bifida are the most common and their annual incidence is 2,500 to 3,000 births inthe United States. The etiology of NTDs is still an enigma, however, in the past few decadesvaluable advances has been made in understanding the causation and measures to preventNTDs and many risk factors are indentified which are associated with it. Objectives: This studywas designed to determine the risk factors and their association with neural tube defects. StudyDesign: Case control study. Place and Duration of Study: This study was conducted at unit111 Lady Willingdon Hospital Lahore and duration was one year from 1.1.2016 to 31.12.2016.Methodology: A total of 120 mothers were included in the study, of which 30 were having ofbabies delivered with NTDs, matched with 90 mothers delivered babies without NTDs (Threecontrols for each NTD case). Informations were collected on special Performa, data was analyzedon SPSS version 20. Results: Majority of the patients in both groups were found between 31-40 years of age, 43.33 %( n13) in patients with NTD group and 56.67 %( n51) in controls whileonly 16.67% (n5) in NTD and 17.78 % (n16) were found between 21-30 years. The mean agewas recorded as 33.06+1.21 and 32.12+ 0.89 respectively. Regarding parity, 23.33% (n7) werefound between P1-2, 26.67% (n11) were P2-3 while 40% (n12) with Parity >4 in the NTD group,while 21.11% (n19) were p1-2, 37.77% (n 34) with P 3-4 and 41.12% (n37) were P >4 in controlgroup. 86.67% (n 26) were found with poor economic status and 13.33% (n4) were found withrich status in NTDs, while 18.89% (n17) were found with poor and 81.11% (n73) with rich statusin control group. Distribution of fetuses according to their gender revealed that 20% (n6) weremales, and 80% (n24) were females in NTDs while 47.77 %( n43) were found males and 52.23%(n47) were females in controls. Regarding family history 80% (n24) with positive history of NTDsin patients of NTD group and 20% (n6) with no history while 4.44% (n4) had positive history and95.56% (n86) had no familial history of NTD in control cases. About previous history of NTDs,93.33% (n28) were found with positive previous history of NTDs and only 6.67% (n2)with noprevious history of NTDs in NTD group, while only 5.56% (n5) were found with positive previoushistory of NTDs and 94.44%(n85) with no previous history in controls. Conclusions: Poor socioeconomic status, family history and previous history of a baby with Neural tube defects are themajor risk factors.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Khenata Forci ◽  
El Arbi Bouaiti ◽  
Mohamed Hassan Alami ◽  
Asmaa Mdaghri Alaoui ◽  
Amal Thimou Izgua

Abstract Background Neural tube defects (NTDs) are a group of birth defects that result from a partial or complete failure of the neural tube to close during embryogenesis. Their prevalence varies between 0.5 to 2 per 1000 births in countries without folic acid supplementation. The aim of our study is to assess the NTDs incidence and describe the risk factors within Moroccan newborn infants. Method This is a descriptive study over a period of 5 and a half years including all births at “Les Orangers” Maternity and Reproductive Health Hospital of Rabat with notification of NTD cases, whether isolated or combined with other anomalies. Data were reported on pre-established sheets and on the teratovigilance registry. Statistical analysis was performed with SPSS version 18 statistical software. Results During the study period, 43,923 births were recorded including 44 cases of neural tube defects, an incidence rate of 1 per 1000 births, with a female predominance; sex ratio = 0.8. These defects included anencephaly (50%), spina bifida (38.6%) and encephalocele (11.4%). The risk factors detected during this study include consanguinity (34%), consumption of fenugreek or other plants (36%), diabetes (4.5%) and medication (2.2%). A family history of malformation was reported in 6.8% of cases and among siblings in 4.5% of cases. The average maternal age was 30.38 ± 6.88 and the average gestational age was 36.80 ± 5.11. A quarter of mothers did not benefit from any medical monitoring during pregnancy while 59% did not take folic acid supplementation during the first trimester of pregnancy and none of them took B9 vitamin during the periconceptional period. The antenatal diagnosis was performed in 63% of cases. The mortality rate was 3.8 per 10,000 and 16% of cases evolved positively. Conclusion NTDs require high intensity and multidisciplinary care which stresses the importance, in our context, of strengthening and optimizing acid folic supplementation strategies during the periconceptional period.


2003 ◽  
pp. 165-181 ◽  
Author(s):  
Robert C. Barber ◽  
Janée van Waes ◽  
Edward J. Lammer ◽  
Gary M. Shaw ◽  
Thomas H. Rosenquist ◽  
...  

2016 ◽  
Vol 13 (3) ◽  
pp. 9-14 ◽  
Author(s):  
Alla Shaljyan ◽  
Gayane Vardanyan ◽  
Anahit Saharyan ◽  
Michael Aghajanov

Fortification of flour and bakery products with folic acid (FA) to reduce the number of neural tube defects as well, as anemia, is practiced in some countries. The purpose of our review is to discuss is folic acid supplement reasonably everyone?It is well established, that folic acid has numerous significant beneficial effects. Folic acid prevents neural tube defects like spina bifida and anencephaly, it prevents development of macrocytic anemia. The ability of folic acid to decrease homocysteine level is associated with its protective influence on cardiovascular disease. Moreover, combination of high folate level with vitamin B12 deficiency may be associated with an increased risk of cognitive impairment and anemia. According to available information, folate has a dual effect on cancer, protecting against cancer initiation, but facilitating progression and growth of neoplastic cells and promote methastasis. However, relationship between folate supplementation and cancer, is, perhaps, one of the most controversial subjects in the field.Whether increased circulating folic acid is a risk factor for certain pathologies, or it might have a beneficial effect is not clear at present. Scientific community does not have a true consensus view on whether mandatory fortification is true approach. 


2020 ◽  
Vol 24 (1) ◽  
Author(s):  
IQBAL AHMAD ◽  
MALIK LIAQAT ALI JALAL ◽  
TEHMINA NAWAZ ◽  
SAMIA SAEED

Objectives: To study clinical presentation and to determine outcome of open Neural Tube Defects at ourrespected institution. We took a review of all cases of open neural tube defects seen at the Neurosurgery Unit of hospital in the last years to document their medical patterns, assess their neonatal outcome.Materials and Methods: This retrospective study included 74 patients, admitted to the Department ofNeurosurgery, D. G. Khan Medical College and Hospital, Dera Ghazi Khan. The procedure for history takingand clinical examination was completed to measure Folic Acid Intake in first trimester, ultra sound abdomen,pre-natal diagnosis, hydrocephalous, CSF leak from swelling, sphincter involvement, weakness of lower limb,previous baby affected, type & location of open neural tube defects along the cranio-vertebral axis. Spine X-rays,neurosonograms, MRIs were carried out to find associated irregularities and complications if exist.Results: Out of 74 children born with open neural tube defects, 9 (12%) mothers received antenatal care only, 7(9%) get folic acid regularly. Prenatal diagnosis was made in 11 (14.8%) mothers whose antenatal abdominalultrasound was done. The most common type of myelomeningocele was lumbosacral 58 (79%). Forty-four(59.4%) babies have hydrocephalous while five babies were microcephaly. Increased risk of rupturedmyelomeningocele was linked with vaginal delivery. Sphincter disturbance and limb paralysis was present in 35(47%) and 32 (43.7%) of babies respectively. The mortality was in 12% patients.Conclusion: We suggest that efforts should be made in this respect to prenatal diagnosis of such lesions to getbetter neonatal outcome


Author(s):  
Elmedina Mrkulić ◽  
Emina Vukas ◽  
Hajrija Maksić ◽  
Meliha Sakić ◽  
Jasmina Mahmutović ◽  
...  

Introduction: Neural tube defects (NTDs) are multifactorial congenital anomalies of the central nervous system that results from failed neural tube closure between the 3rd and 4th weeks of embryonic development. Numerous clinical and experimental studies indicate that supplementation with folic acid before and during early pregnancy reduces the development of these anomalies. The present study examined the incidence and risk factors for NTDs and evaluated the effects of folic acid supplementation.Methods: This cross-sectional study included all children with NTDs who were hospitalized at the Pediatric Clinic, Clinical Centre University of Sarajevo during the period from January 01, 2008 to December 31, 2012. Data were collected retrospectively from the medical histories of hospitalized children. The study included children in pediatric clinics from four cantons (Sarajevo, Zenica–Doboj, Unsko–Sanski, and Central Bosnia) of the Federation of Bosnia and Herzegovina. The number of live births for the specified period in each of the four cantons was taken from a report by the Cantonal Ministry of Health.Results: Among the 69,096 live births recorded during the study period, 39 children had verified NTDs, with an overall incidence of 0.56:1,000 (or 5.6:10,000) in all four cantons. The most common NTDs were myelomeningocele with hydrocephalus (22/39, 56.4%), followed by isolated myelomeningocele (9/39, 23.1%), spina bifida occulta (7/39, 17.9%), and occipitocele (1/39, 2.6%). A total of 33.3% (13/39) of mothers took folic acid, but only one began supplementation prior to pregnancy, while 67.7% (26/39) of mothers did not take folic acid during pregnancy. NTDs were found more frequently in primiparas (53.8%), women with low education (basic school, 64.1%), and unemployed women (82.1%).Conclusion: It is important to make national recommendations for folic acid supplementation for women of reproductive age, but also change the public health policy that includes mandatory fortification of basic foods as this is the best measure for primary prevention of NTDs in the whole population regardless of employment and education status. Additional comprehensive studies are required to assess the incidence and risk factors throughout Bosnia and Herzegovina.


2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Neda K. Dezfuli ◽  
Ian M. Adcock ◽  
Shamila D. Alipoor ◽  
Sharareh Seyfi ◽  
Babak Salimi ◽  
...  

Background. Lung cancer is one of the leading causes of death worldwide. MicroRNAs (miRNAs) are small noncoding RNAs that regulate gene expression and may act as both tumor suppressors and as oncogenes. The presence of single nucleotide polymorphisms (SNPs) inside the miRNA genomic region could affect target miRNA maturation, expression, and binding to its target mRNA and contribute to cancer development. Previous studies on the SNPs Rs2910164 in miR-146a and Rs767649 in miR-155 showed association with non-small cell lung cancer (NSCLC) development. Thus, the aim of this study was to detect any correlation between those SNPs in Iranian NSCLC patients. Methods. In a small cohort study, 165 NSCLC patients and 147 noncancer controls were enrolled between Apr 2015 and Sep 2019 at the Masih Daneshvari Hospital, Tehran, Iran. Allele frequencies from the genomic DNA of blood cells were studied using PCR-RFLP and their association with the risk of lung cancer was evaluated. Results. The rs2910164C allele (OR = 1.56, 95% CI = 1.10–2.21, p = 0.012 ) and CC genotype (OR = 2.93, 95% CI = 1.07–7.9, p = 0.034 , respectively) were associated with a significantly increased risk for lung cancer compared to that for the GG genotype. When patients were stratified according to smoking exposure, no association with rs2910164 variants was found. The AT genotype (OR = 0.57, 95% CI = 0.33–0.99, p = 0.048 ) and the A allele frequency (OR = 0.58, 95% CI = 0.35–0.98, p = 0.043 ) in rs767649 were lower in NSCLC patients in comparison with the control group. In addition, the rs767649 AT genotype frequency in smoking controls was higher than in smoking NSCLC patients (OR = 0.44, 95% CI = 0.21–0.90, p = 0.024 ). No association was found between rs2910164 and rs767649 variants and stage or type of NSCLC. Conclusion. Our finding suggests that miR-146a rs2910164 and miR-155 rs767649 polymorphisms may be considered as genetic risk factors for the susceptibility to NSCLC in the Iranian population. However, a larger multicenter study across Iran is needed to confirm these findings.


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