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 Table of Contents  
Year : 2017  |  Volume : 16  |  Issue : 1  |  Page : 25-29

Neural tube defects and maternal characteristics in a North Indian Province

1 Department of Paediatric Surgery, Pt B D Sharma Postgraduate Institute of Medical Sciences, Rohtak, Haryana, India
2 Department of Obstetrics and Gynaecology, Pt B D Sharma Postgraduate Institute of Medical Sciences, Rohtak, Haryana, India

Date of Web Publication5-Jul-2017

Correspondence Address:
Yogender S Kadian
Professor, 8-UH, Medical Campus, PGIMS, Rohtak - 124001, Haryana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2384-5589.209484

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Background: Neural tube defects (NTD) affect fewer than 2 per 1000 pregnancies, account for a major burden on healthcare globally and have wide geographic prevalence. The present study was carried out with the aim to evaluate the maternal characteristics in cases of babies born with various neural tube defects in a tertiary care centre in Northern India. Methods: This retrospective analytical study was carried out by accessing and analyzing the medical case records of women who delivered babies with neural tube defects between January 2005 to December 2008 in the Department of Obstetrics and Gynaecology at Pt B D Sharma Postgraduate Institute of Medical Sciences, Rohtak, Haryana, India. Results: Sixty seven babies had neural tube defects thus accounting for a NTD prevalence of 2.62/1000 births. Among these, there were 48 cases of anencephaly, 15 cases of meningocele and/or meningomyelocele, 4 cases of spina bifida occulta. Anencephaly was most prevalent in primiparous women of low literacy aged between 21–25 years. Similar trends were visible in meningomyelocele and spina bifida groups. Most women in the study were homemakers with almost equitable distribution in rural and urban areas. No preponderance of any particular blood group was evident for any of the neural tube defects. Conclusion: Neural tube defects affect a substantial number of newborns in India. Lower age and parity, low literary and rural residence are some of the maternal factors associated with increased risk of these disorders. Preventive strategies like periconceptional folic acid supplementation and health education may help reduce the incidence of these conditions even in low resource settings.

Keywords: Maternal characteristics, neural tube defects, newborns

How to cite this article:
Kadian YS, Malik R, Duhan N, Rattan KN. Neural tube defects and maternal characteristics in a North Indian Province. Afr J Med Health Sci 2017;16:25-9

How to cite this URL:
Kadian YS, Malik R, Duhan N, Rattan KN. Neural tube defects and maternal characteristics in a North Indian Province. Afr J Med Health Sci [serial online] 2017 [cited 2018 Oct 19];16:25-9. Available from: http://www.ajmhs.org/text.asp?2017/16/1/25/209484

  Introduction Top

Neural tube defects (NTDs) account for a global burden of 300,000 cases each year and account for a significant healthcare burden.[1] A wide geographic variation in incidence ranging from 0.6/1000 births in Africa to 10/1000 births in the Middle East.[2],[3] A higher incidence noted in Northwest Britain as compared to Southwest Britain is suggestive of a geographic gradient.[4] NTDs account for a significant healthcare burden even for developed nations. The situation in the low-income countries is even more grim given the increased prevalence, late diagnosis and poor maternal and neonatal management in them. The reported incidence in India is between 0.5 and 11/1000 births and is higher in North India than in South India.[5] Haryana is an agriculture-based State adjoining the national capital with wheat being its staple cereal. Deficiency of iron, folic acid and vitamin B12 is common in this State.[6] The NTDs are a group of disorders that have been shown to vary with parental and environmental characteristics. Nutritional deficiency of folic acid has been implicated in the aetiology of the condition. Apart from this, genetic predisposition, maternal diabetes, obesity, oxidative stress, exposure to anticonvulsants, lead, arsenic, tetrachlorethylene, sulphonamides, trimethoprim and hyperthermia have been proposed in various studies to be important contributing factors.[7],[8],[9],[10],[11],[12],[13],[14] The frequency of 677C-T homozygosity in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene may account for preponderance of these disorders among Hispanic population.[15]

Very few studies have been published about the incidence of NTDs from North India.[16] Hence this study was taken up to evaluate the prevalence and maternal characteristics of these disorders at a tertiary care centre of Haryana State.

  Materials and Methods Top

Pt B D Sharma Postgraduate Institute of Medical Sciences, Rohtak, Haryana, India, is a tertiary care centre catering to the population of the State of Haryana as well as to that of neighbouring States such as Punjab, Uttar Pradesh and Rajasthan and to the National Capital of New Delhi. This retrospective analytical study was performed by accessing and analysing the maternal medical case records of women who delivered babies with NTDs between January 2005 and December 2008 in the Department of Obstetrics and Gynaecology at Pt B D Sharma Postgraduate Institute of Medical Sciences, Rohtak, Haryana, India. The total number of births and the number of neonates born with gross congenital anomalies in the study period were noted. The various maternal characteristics such as age, parity, place of residence, blood group and birth order of babies born with NTDs and their type of NTD were noted and tabulated as well as analysed using the Statistical Package for the Social Sciences (SPSS) version 20.0 software after Chi-square test. Women delivering babies with anomalies other than NTDs were excluded from the study.

  Results Top

One hundred and twenty-four out of the 25,543 newborns (4.85/1000) born during the study period had gross congenital anomalies. Sixty-seven of these babies had NTDs thus accounting for 54% of all anomalous births and an NTD prevalence of 2.62/1000 births. Among these, there were 48 cases of anencephaly, 15 cases of meningocele and/or meningomyelocele, four cases of spina bifida occulta. Of the non-NTD cases, there were 17 cases of hydropcephalus, 10 cases of hydrops fetalis, three cases each of duodenal atresia and multicystic dysplastic kidney, two cases each of microcephaly, gastroschisis and sacrococcygeal teratoma and one case each of esophageal atresia, situs invertus, polycystic kidney, congenital heart disease, Dandy Walker Syndrome, Arnold Chiari Syndrome, intracranial mass, bilateral renalagenesis and lung hypoplasia, exencephaly and cystic hygroma. Three babies had multiple anomalies − one had multicystic kidney along with absence of penis, and the other two had multiple anomalies of the long bones.

[Table 1] depicts the demographic profile of women in the study.
Table 1: Maternal characteristics in the study

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Among the anencephalic babies, 25 were male, 22 were female and one had ambiguous genitalia. There were eight male and seven female babies among those with meningocele/meningomyelocele, and the corresponding figures for occult spina bifida were three and one, respectively. One anencephalic baby, 11 of those with meningocele/meningomyelocele and all four with spina bifida were alive at birth while the remaining were stillborn. Four babies with anencephaly also had another coexisting congenital anomaly − one had sirenomelia and had presented as breech, two had spina bifida and one had ambiguous genitalia.

  Discussion Top

NTDs have a wide geographic and periodic variation in prevalence. The global incidence varies from 0.2 to 10/1000 live births in different studies.[2],[17] In the United States, the condition affects more than 2500 infants annually.[18] In India, this group of disorders document a prevalence of 3.63/1000 live births with highest rates reported from the northern States of India such as Punjab, Haryana, Rajasthan and Bihar.[19] In recent years, the State of Haryana has witnessed large scale migration from neighbouring States thus diluting the characteristics of the indigenous State population. The high incidence of NTDs in the present study corroborates the previously reported high prevalence of these disorders in North India.[5]

The NTDs occur as a consequence of non-closure or partial closure of the neural tube very early in gestation even before the pregnancy is clinically confirmed in most cases. This gravid period could be influenced by pre-existing or ongoing maternal biological characteristics such as febrile illnesses, medications, nutritional deficiencies and genetic predisposition. Apart from these, environmental factors such as socioeconomic status (SES) and neighbourhood characteristics may also impact the maternal mileau, albeit indirectly. These could be some of the factors contributing towards wide geographic and periodic variations observed in these disorders.

Higher maternal age has been shown to be associated with higher incidence of NTDs. Vieira and Castillo[20] reported higher incidence of these defects in women aged above 40 years or below 19 years and concluded that this association is stronger for spina bifida than that for anencephaly. The more frequent occurrence of NTDs in younger women in the present study suggests the presence and impact of the causative factor(s) relatively early in life of these women, and nutritional deficiency of folic acid may be one such component. Pathak et al.[6] measured the serum ferritin, floate and vitamin B12 levels in 283 antenatal women in a rural block of Haryana and reported poor stores in 67.7, 26.3 and 74.1% women, respectively. They also found a 16.2% prevalence of concomitant deficiency of these micronutrients in them. There was significantly higher incidence of NTDs in nulliparous women in the present study. Higher occurrence of NTDs in lower birth orders may also point to a pre-existing nutritional folate deficiency in the study population. Imaizumi reported a significantly high degree of association between birth order and anencephaly. However, Vieira[21] conducted a meta-analysis of published data on NTDs by birth order and concluded that there was no consensus on the association of birth order and NTDs.

In the present study, a significantly higher incidence of NTDs was noted among homemakers than among labourer women. This may suggest that certain factors other than physical labour may be operational in the aetiogenesis of the condition. A dietary deficiency of essential nutrients is expected to occur more frequently in labourer women due to lower SES; however, a balanced diet cannot be presumed in homemakers too due to several factors such as varied cooking practices and inequitable distribution of food among the family members. Predominance of low literacy could also have contributed to some extent to the more frequent occurrence of these defects in the present study. Poor literacy is likely to adversely impact the understanding of the importance of preventive strategies and healthcare options available for management or termination of pregnancies affected by NTDs. This factor also contributes to delay in seeking medical redressal, thus contributing to enhanced medical costs and procedural complications. Cho et al.[22] also suggested that women with low health literacy are more prone to inadequately understand the prenatal screening tests for aneuploidy and NTDs.

In the present study, an insignificant difference in the place of residence was noted. The State of Haryana is an agriculture-based area, as well as its towns or districts are also exposed to the agricultural environmental impact. Agriculture is one of the parental occupations that are known to increase the risk of these disorders.[23] Maternal residence within 0.25 miles of cultivated fields in the periconceptional period is known to increase the risk and may be indicative of a possible role of agricultural pesticides in the aetiogenesis.[24] Both lower SES and residence in an SES-neighbourhood have been reported to increase the risk of NTDs.[25] Contaminated drinking water is one of the important health issues in India particularly in the rural areas. Prenatal exposure to nitrates in drinking water is reported to predispose to NTDs as also to various other structural fetal defects.[26] However, Luben et al.[27] did not find any association between urban-rural residence and occurrence of anencephaly or spina bifida but suggested a relationship between rural residence and increased risk of encephalocele.

Gender is not a significant factor in humans, and the same has been reaffirmed in the present study though Ochratoxin-A-induced NTDs reportedly occur principally in male offspring.[28] In the present study, a significant preponderance of blood groups B and O was found in women delivering newborns with NTDs. No obvious reason can be attributed to this observation. However, Farley[29] also reported a significant but unexplainable association between ABO blood group and proband’s lesion level in spina bifida cases.

Anencephaly, the most frequent NTD is not compatible with life and most affected newborns are either stillborn or die soon after birth. However, the emotional trauma for the couple is no less than that for any correctable congenital anomaly. The condition can be picked up by sonography in the first trimester itself when termination would be less risky for maternal health, both physical and mental. On the other hand, spina bifida is correctable and has attracted more researchers all over the world. The estimated lifetime direct and indirect medical and surgical costs for severe spina bifida in the US is around $ 250,000.[30] The limitations of cost and limited availability of services and infrastructure worsen the prognosis of the condition in developing nations. This makes prevention all the more important for this partly preventable group of disorders. Food fortification has resulted in two-third reduction in the prevalence of NTDs in China and should be one of the foremost interventions in all settings.[31] Health education, periconceptional folic acid supplementation and provision of services for early diagnosis and management of these conditions are some of the other interventions that can help reduce the burden of NTDs.In conclusion, the NTDs affect a substantial number of newborns in India. Lower age and parity, low literacy and rural residence are some of the maternal factors associated with increased risk of these disorders. Preventive strategies such as periconceptional folic acid supplementation and health education may help reduce the incidence of these conditions even in low resource settings.

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Conflicts of interest

There are no conflicts of interest.

  References Top

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