Please use this identifier to cite or link to this item: http://hdl.handle.net/123456789/2380
Title: FOLATES AND NEURAL TUBE DEFECTS IN MARRIED FEMALE HOSPITAL POPULATION
Authors: Nauman, Nuzhat
Keywords: Animal Sciences
Issue Date: 2014
Publisher: Quaid-i-Azam University, Islamabad
Series/Report no.: Faculty of Biological Sciences;
Abstract: Neural tube defects (NTDs) are severe, distressing, congenital abnormalities of central nervous system which result in either death of infant and in those who survive suffer from lifelong disabilities. Folic acid has been proven to prevent most cases of spina bifida and anencephaly. Neural tube defects (NTDs) have been associated with maternal folate deficiency and the mutation C677T in the methylenetetrahydrofolate reductase gene (MTHFR), a key enzyme in folate metabolism. Mothers who delivered NTD infant or had come for termination were identified in Obstetrics Department of Holy Family Hospital, Rawalpindi and matched mothers who gave birth to healthy babies were selected from same ward as control. Maternal demographic data was computed after direct interviews. Among the 190 neural tube defects identified myelomeningocele (30%), meningocele (42.11%) and anencephaly (18.95%) were the commonest. The rare NTDs identified were lipomeningocele (2.11%), Dandy Walker syndrome (1.05%), Spina bifida+Arnold –Chiari syndrome and syringomyelia. Hydrocephalous along with NTDs was present in 35.79%. Mean maternal age of case mothers was 27.51 ± 0.38 years. Significantly more females were present in the NTD offspring (P=<0.005). Highest percentage of NTDs was observed in age range between 25-29 years. Majority of NTDs were present in first parity (26.31%) with a steady decline in subsequent parities. Consanguinity was a risk factor in this study. Frequency of consanguineous marriages among case mothers (60%) were significantly higher than in control mothers(45%) (P=<0.015). Mothers with NTD births from rural areas were significantly more than from urban areas (P=<0.0001). Case mothers exposed to passive smoke were significantly more than control mothers (P= <0.0066) and gave birth to babies with both cranial NTDs(10%) as well as spinal NTDs (31.05%). Case mothers exposed to environmental hazards (chemical waste and garbage dumps) were significantly more than control mothers exposed to same hazards (P=<0.0413). High temperatures were reported by 11.05% mothers with NTD births and diabetes was present in 13.68%. Case mothers who took diet inadequate in fruits and vegetables were greater than control mothers and the difference was significant (P= < 0.0026). None of the case mothers had taken folic acid in periconceptional period and alarmingly low knowledge of folic acid was present in case mothers as well as control mothers. viii Abstract ix Awareness regarding importance of folate intake and its relevance in preventing NTDs was lacking in case mothers (0%), only 25% of control mothers had heard of folic acid and only 5% taken it in periconceptional period. Adverse reproductive history in previous pregnancy was present in 61.59% case mothers which was significantly higher than control mothers (P= <0.0001). Majority of case mothers had not gone to school (45.26%) and belonged to low socio economic group (44.74%). In control mothers (58%) and case mothers (75.79%) were house wives. Occupational status of fathers with NTD births were mostly unskilled (35.79%) and skilled laborers (33.68%) with similar results in fathers with normal babies. Folate status was assessed by estimation of serum and RBC folate levels. Mean Serum and RBC folate (P=<0.0001) were significantly low compared to control mothers. Compared to control group in all the age cohorts case mothers showed significantly low RBC folate levels (P=<0.001). Serum folate was non-significantly low in case mothers compared to controls. Case mothers exposed to passive smoke had significantly low mean RBC folate levels (P=<0.0001) compared to control mothers, while mean serum folate levels (P=0.07) were not significantly different in case and control mothers. RBC folate was significantly low in control (P=<0.0001) and case mothers (P=<0.0139) residing in rural areas, whereas serum folate levels showed no significant difference. Both serum folate and RBC folate levels were higher in control and case mothers who reported intake of folate rich diet compared to those who reported diet insufficient in fruits and vegetables and the difference was significant. The levels of RBC folate and serum folate were higher with increase in levels of education and a better socioeconomic status. Genotyping of MTHFR C677T mutation was carried out by polymerase chain reaction and restriction fragment length polymorphism studies(PCR-RFLP). Comparison of polymorphism in the 2 groups was done using the chi-square test. Genotyping results showed MTHFR 677TT genotype significantly more prevalent in case mothers as compared to control mothers (P= <0.039). The study showed consanguinity, diet poor in folate, low folate status with MTHFR 677TT genotype were risk factors for occurrence of NTDs in Pakistani hospital population. In Pakistan, with meager health resources and high poverty level, much needs to be done in order to increase consumption of folic acid in women of child-bearing age and for a developing country like Pakistan with high rate of illiteracy the optimal solution is flour fortification with folic acid. INTRODUCTION
URI: http://hdl.handle.net/123456789/2380
Appears in Collections:Ph.D

Files in This Item:
File Description SizeFormat 
BIO 3784.pdfBIO 37848.08 MBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.