ABSTRACT

Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000

newborns. The clinical manifestations are often subtle or not present at birth. This
likely is due to trans-placental passage of some maternal thyroid hormone, while
many infants have some thyroid production of their own. Common symptoms
include decreased activity and increased sleep, feeding difficulty, constipation, and
prolonged jaundice. On examination, common signs include myxedematous facies,
large fontanels, macroglossia, a distended abdomen with umbilical hernia, and
hypotonia. CH is classified into permanent and transient forms, which in turn can
be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis
accounts for 85% of permanent, primary CH, while inborn errors of thyroid
hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases.
Secondary or central CH may occur with isolated TSH deficiency, but more
commonly it is associated with congenital hypopitiutarism. Transient CH most
commonly occurs in preterm infants born in areas of endemic iodine deficiency. In
countries with newborn screening programs in place, infants with CH are
diagnosed after detection by screening tests. The diagnosis should be confirmed by
finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests,
such as thyroid radionuclide uptake and scan, thyroid sonography, or serum
thyroglobulin determination may help pinpoint the underlying etiology, although

treatment may be started without these tests. Levothyroxine is the treatment of

choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate
goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL)
and normalize serum TSH levels. Frequent laboratory monitoring in infancy is
essential to ensure optimal neurocognitive outcome. Serum TSH and free T4
should be measured every 1-2 months in the first 6 months of life and every 3-4
months thereafter. In general, the prognosis of infants detected by screening and
started on treatment early is excellent, with IQs similar to sibling or classmate
controls. Studies show that a lower neurocognitive outcome may occur in those
infants started at a later age (> 30 days of age), on lower l-thyroxine doses than
currently recommended, and in those infants with more severe hypothyroidism.
OBJECTIVES OF THE STUDY:
1. To assess the knowledge of female student regarding prevention of Neural tube
defect in periconceptional period before planned teaching programme.
2. To evaluate the effectiveness of planned teaching programme on prevention of
Neural tube defect in periconceptional period among female student.
3. To determine the relationship between the socio-demographic variables and
knowledge of the female student.

HYPOTHESIS:

4.

H 1:

There is a significant relationship between planned teaching programme and

level of knowledge among female student regarding prevention of Neural tube

defect in periconceptional period.
5.

H 2:

There is a significant association between the levels of knowledge among

female student regarding prevention of Neural tube defect in periconceptional

period and selected demographic variable
OPERATIONAL DEFINITIONS:
Knowledge: Information possessed by final year student about the prevention of
Neural tube defect.
Effectiveness: Improvement in the level of knowledge of female student after
planned teaching programme on prevention of neural tube defect in
periconceptional period measured by self administered questionnaire.
Planned teaching programme: It refers to organized group teaching for 30-45
min, through lecture cum discussion method using flash card to impart knowledge
for the final year female student regarding prevention of neural tube defect in
periconceptional period.

Neural tube defect:

Neural tube defects are the most structural congenital

anomalies and imply a failure of proper closure of neural tube and covering
mesoderm and ectoderm.
Periconceptional period: Periconceptional period is period start from first three
month before conception and after three month of conception.

INTRODUCTION

Mother is one who nurtures us in her womb 9 months and bring us to enjoy
the supreme blessing on earth, that is life. A women, pregnancy and motherhood
are developmental milestones that are highly emphasized by our culture.
Motherhood traditionally has been considered almost a sacred state and the only
way for women to fulfill herself. 1
Birth defects are also called "congenital anomalies or "congenital
abnormalities." The word "congenital" means "present at birth." The words
"anomalies" and "abnormalities" mean that there is a problem present in a baby. 2
World health statistics 2008; about 260,000 national deaths world wide
cased by congenital anomalies. This figure reported about 71 percentage of the
neonatal death. 3
Neural tube defects (NTDs) are among the most common birth defects that
cause infant mortality (death) and serious disability. 3
Periconceptional period is the period from first three months before
conception and after three month of conception. Adequate folate intake during the
Periconceptional period, the time just before and just after a women become

pregnant, helps to protect against a number of congenital malformation mainly

NTDs. 5
The United States public health Service recommended that all women who
can become pregnant consume 400 microgram of folic acid daily for the
prevention NTDs (Centers for Disease Control 2009). Research shows that up to
70 percentage of all cases of NTD can be prevented by that the Periconceptional
maternal consumption of folic acid. 4
Neural Tube Defects (NTDs) are the second most prevalent group of
congenital anomalies in the world, second only to cardiac malformations and are
associated with substantial morbidity and mortality. NTDs are congenital
malformations occurring during early intrauterine life around 3-4 weeks of
gestation by failure of closure of the neural tube which eventually forms the central
nervous system. 4
Annually worldwide an estimated 300,000 or more babies are born with
spinal bifida and anencephaly. In the United States reported birth prevalence rates
vary from 4 to 10 per 10,000 live births. Some studies in countries such Ireland,
United Kingdom, China, Hungary, Mexico and India (3.9 to 9 per1000) has
reported higher rates. 5

A wide range of frequency has been quoted from different parts of India &
it was 3.9/1000 in Lucknow, 7/1000 in last Delhi and 11.4/1000 birth

in

Davangere(Karnataka). 6
There are many factors that cause Neural Tube Defects in newborns. The
cause of NTDs is not known. Scientists believe that there are genetic factors,
environmental factors, and nutritional components. However, according to the
March of Dimes, the parents of about 95% of babies born with NTDs do not have a
family history of these disorders. 3
Primary NTDs have multifactorial inheritance maternal risk factors include
alcohol, radiation exposure, insulin dependent diabetes mellitus (IDDM), Valproate
and carbamazepene, zinc, vitamin B, vitaminB12, vitamin C and folate deficiency.
Chromosomal abnormality including Trisomy 13 and 15 has been reported. 7
Maternal malnutrition is an important risk factor for development of Neural
tube defect. lack of Periconceptional folic acid supplementation, folate poor diet ,
related lack of education in nutrition , poverty , poor eating habits , prolonged
cooking of vegetables and cultural factors (food-fads) etc. are the important risk
factors. 8
Foods that are high in folic acid include kiwi fruits and papaya, vegetables
such as brocolli, brussell sprouts, spinach, cabbage, asparagus and cooked kidney.

Be careful not to overcook your vegetables as this may destroy the folic acid. Other
good sources of folic acid include baked beans, lettuce. Oranges, egg yolks, milk
and peas.8
Indian Academy of pediatric (IAP) recommended that all women capable of
becoming pregnant consume 400 microgram of folic acid daily prevent NTDs
.Studies prove that periconceptional folic acid supplementation can prevent 60% or
more such as Spina bifida and anencephaly . 9
The studies reported that women periconceptional consuming vitamin
supplement pills containing folic acid an urgently needed to prevent birth defect,
compliment to the folic acid fortification of cereal grains and other studies suggest
that substantial educational campaign could, over a few years period double the
number of women consuming folic acid supplement pills and make substantial
contribution towards preventing Spina bifida and Anencephaly. 10
The studies report have been increases in folic acid awareness and
knowledge, since most women of child bearing age still dont consume the
recommended amount of folic acid daily for prevention of NTDs . Awareness of
folic acid among women 18-25 years of age has increase from 52 percentage in
1995 to about 84 percentage in 2005 and knowledge of folic acid has increased
from 4 percentage to 19 percentage in the same time.10

The Centers for Disease Control and prevention (CDC) estimate that 50
percentage to 70 percentage of all NTDs can be prevented with the maternal
periconceptional consumption of the Vitamin B, folic acid (CDC2001). The
Institutes Medicine CDC recommended the maternal consumption of 400
micrograms of synthetic folic acid daily 1 month before conception and during the
first few months of pregnancy. Because half of the all pregnancy in the United
States are unplanned (Finces and Henshow 2006) and because NTDs occur often
before a women knows she is pregnant. CDC recommends that all women who can
become pregnant consume the recommended amount of folic acid daily, regardless
of their pregnancy intervention. 11

Definition and classification

Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present

at birth. Thyroid hormone deficiency at birth is most commonly caused by a
problem with thyroid gland development (dysgenesis) or a disorder of thyroid
hormone biosynthesis (dyshormonogenesis). These disorders result in primary
hypothyroidism. Secondary or central hypothyroidism at birth results from a
deficiency of thyroid stimulating hormone (TSH). Congenital TSH deficiency may

rarely be an isolated problem (caused by mutations in the TSH subunit gene), but
most commonly it is associated with other pituitary hormone deficiencies, as part
of congenital hypopituitarism. Peripheral hypothyroidism is a separate category
resulting from defects of thyroid hormone transport, metabolism, or action.
Congenital hypothyroidism is classified into permanent and transient CH.
Permanent CH refers to a persistent deficiency of thyroid hormone that requires
life-long treatment. Transient CH refers to a temporary deficiency of thyroid
hormone, discovered at birth, but then recovering to normal thyroid hormone
production. Recovery to euthyroidism typically occurs in the first few months or
years of life. Permanent CH can be further classified into permanent primary and
secondary (or central) CH; transient primary CH has also been reported. In
addition, some forms of CH are associated with defects in other organ systems;
these are classified as syndromic hypothyroidism.
The underlying etiology of CH typically will determine whether hypothyroidism is
permanent or transient, primary, secondary, or peripheral, and whether there is
involvement of other organ systems (see section on Etiology for details). The
primary emphasis of this review is a discussion of primary CH, but there also will
be some discussion of secondary or central CH. It should be borne in mind that an
underlying etiology may not be determined for many cases of CH. Further, while

the exact cause of some cases of thyroid dysgenesis is known, e.g., a mutation in
the TTF-2 gene, mutations in genes encoding such transcription factors important
in thyroid gland development have been found in only 2% of cases. Thus, an exact
cause for the vast majority of cases of thyroid dysgenesis remains unknown. This
has not been a significant issue, however, as management of CH is based on
restoring thyroid function to normal, not necessarily knowing the exact underlying
cause.

Epidemiology

Prior to the onset of newborn screening programs, the incidence of congenital

hypothyroidism, as diagnosed after clinical manifestations, was in the range of
1;7,000 to 1:10,000 [1]. With the advent of screening of newborn populations, the
incidence was initially reported to be in the range of 1:3,000 to 1:4,000 [2]. With
more experience from state, regional, and national screening programs, it has
become apparent that the incidence varies by geographic location. A report from
the French newborn screening program summarizing a 20 year period found the
incidence of permanent hypothyroidism to be 1:10,000 [3], whereas a report from

the Greek Cypriot population over an 11 year period found the incidence in
newborns to be 1:800 [4].
A recent report showed that the incidence in the United States increased from
1:4,094 in 1987 to 1:2,372 in 2002 [5]. The reason(s) for the increased incidence is
not clear, but one possible explanation may be a change in testing strategy. With
increased sensitivity and accuracy of TSH methods, many U.S. and other programs
around the world have switched from a primary T4-follow-up TSH approach to a
primary TSH test. If the TSH cutoff is lowered, more infants with milder
congenital hypothyroidism will be detected. In addition, there is some variation in
the incidence among different racial and ethnic groups, and the mix of these groups
has changed. Several U.S. programs have reported a higher incidence in the Asian,
Native American, and Hispanic populations and lower in the American Black
population as compared to the White population. A summary of the New York
State program during the years 2000 to 2003 showed some interesting
demographic variations in the incidence of congenital hypothyroidism (see Table
Table1)1) [5]. As compared to the overall incidence of congenital hypothyroidism,
the incidence was somewhat lower in Whites (1:1815) and Blacks (1:1902),
somewhat higher in Hispanics (1:1559), and highest in the Asian population
(1:1016). In addition, New York found the incidence nearly double in twin births
(1:876) as compared to singletons (1:1765), and even higher with multiple births

(1:575). Older mothers (> 39 years) had a higher incidence (1:1,328) compared to
younger mothers (< 20 years, 1:1,703). The incidence was higher in preterm vs.
term infants [5]. It is not clear whether that the congenital hypothyroidism in
preterm infants is transient or permanent. However, as the incidence of preterm
births has increased by approximately 20 percent over the last 20 years, this may
contribute to the reported overall increased incidence. Nearly all screening
programs report a female preponderance, approaching 2:1 female to male ratio [6].
A report from Quebec shows this female preponderance occurs mostly with thyroid
ectopy, and less so with agenesis [7].
Clinical description

The clinical features of congenital hypothyroidism are often subtle and many
newborn infants remain undiagnosed at birth [8,9]. This is due in part to passage of
maternal thyroid hormone across the placenta. This is measured in umbilical cord
serum to be 25-50 percent of normal [10]. This provides a protective effect,
especially to the fetal brain [11]. Also, the most common form of congenital
hypothyroidism has some moderately functioning thyroid tissue [12]. The slow
development of obvious clinical symptoms [13], coupled with the importance of
early treatment led to the implementation of widespread newborn screening for this

condition [2]. However, newborn screening for hypothyroidism is not done in

many third world countries. Only an estimated 1/3 of the worldwide birth
population is screened. It is therefore important that clinicians are able to recognize
and treat the disorder.
Etiology
Permanent congenital hypothyroidism may be due to primary or secondary
(central) causes. Primary causes include defects of thyroid gland development,
deficiencies in thyroid hormone production, and hypothyroidism resulting from
defects of TSH binding or signal transduction. Peripheral hypothyroidism results
from defects in thyroid hormone transport, metabolism, or resistance to thyroid
hormone action. Secondary or central causes include defects of thyrotropin
releasing hormone (TRH) formation or binding and TSH production. These are
covered briefly in this review and are listed in Table Table33.
Transient hypothyroidism may be caused by maternal or neonatal factors. Maternal
factors include antithyroid medications, transplacental thyrotropin receptor
blocking antibodies and exposure to iodine deficiency or excess. Neonatal factors
include, neonatal iodine deficiency or excess, congenital liver hemangiomas and
mutations in the genes encoding for DUOX and DUOXA2 (see Table Table33).
.

Permanent congenital hypothyroidism

In iodine sufficient countries, 85% of congenital hypothyroidism is due to thyroid
dysgenesis. This term refers to an aberration of the embryological development of
the thyroid gland. The remaining 10-15% of cases can be attributed to the inborn
errors of thyroid hormone synthesis, also called dyshormonogenesis, or to defects
in peripheral thyroid hormone transport, metabolism, or action [27].
.
Thyroid dysgenesis
Thyroid dysgenesis presents in three major forms: thyroid ectopy, athyreosis and
thyroid hypoplasia. Thyroid ectopy refers to an ectopic location of the thyroid
gland. This accounts for two-thirds of congenital hypothyroidism due to thyroid
dysgenesis and is twice as common in females [28]. In these cases, a thyroid
remnant is usually found along the normal pathway of the thyroglossal duct. This
represents the path taken by the developing thyroid as it descends from the base of
the tongue to its final location in the neck [28,29]. In one study done on
hypothyroid neonates, ectopic thyroid tissue was found inferior and superior to the
hyoid bone, and above the thyroid cartilage [30]. Athyreosis refers to the complete
absence of thyroid tissue. Athyreosis and thyroid hypoplasia account for the
remaining one third of thyroid dysgenesis.

Table Table44 illustrates the relative frequencies of the different forms of

congenital hypothyroidism found in patients screened in the Quebec newborn
screening program from 1990-2004.

Table 4
Etiology of congenital hypothyroidism in 148 patients diagnosed in the Quebec
Newborn Screening program from 1990-2004. (modified from: Eugene et al. J
Clin Endocrinol Metab 90:2696-2700, 2005 [111])
Thyroid dysgenesis is generally thought to be sporadic in occurrence. However,
recent evidence points to the possibility of a genetic component. One study of all
cases of thyroid dysgenesis found that 2% were familial in occurrence [31].
Additional studies also showed that 7.9% of first degree relatives of infants with
congenital hypothyroidism had a thyroid developmental anomaly [32]. There was
some speculation as to a possible seasonal variation in the incidence of congenital
hypothyroidism; however, this topic is still under debate [33,34].
Some genes have been implicated as a cause of thyroid dysgenesis. However, these
generally account for a small number of cases [35]. These include paired box gene
eight (PAX8), TTF-2, NKX2.1 and NXK2.5 [22-25][36-39]. These encode for
transcription factors which are expressed both during thyroid embryogenesis and in

the normal functioning gland [29]. These transcription factors are also expressed in
other tissues of the developing fetus. Mutations in genes coding for these
transcription factors lead to distinct phenotypic syndromes which are linked to
their tissue expression [40]. These are described below (see Table Table55).

Table 5
Transcription factor gene mutations resulting in thyroid dysgenesis and associated
clinical findings
TTF-2 - a homozygous missense mutation in TTF-2 causes a genetic syndrome of
thyroid dysgenesis, choanal atresia, cleft palate and spiky hair [22]. This syndrome
has been recently referred to as Bamforth-Lazarus Syndrome [35].
NKX2.1 - mutations in NKX2.1, also known as TTF-1, have been associated with
congenital hypothyroidism, respiratory distress and ataxia [23,24]. Also, recent
reports describe an NKX2.1 mutation with congenital hypothyroidism and benign
chorea [25,38].
NKX2.5 has

been

expressed

in

cardiac

tissues;

the

recent

finding

of NKX2.5 mutations in patients with thyroid dysgenesis suggest a genetic cause

for

the

increased

hypothyroidism[39].

incidence

of

cardiac

malformations

in

congenital

In contrast, PAX8 mutations seem to cause thyroid dysgenesis in the absence of

other congenital anomalies [35-37]. However, given that PAX8 is also expressed in
the mesonephros and ureteric buds [40], this may explain the increased incidence
of genitourinary malformations in patients with congenital hypothyroidism [19].
.
TSH resistance
There are several forms of TSH resistance. Mutations in the TSH receptor gene
leading to thyroid hypoplasia have been found [41]. Another form of TSH
resistance is dominantly inherited and has been linked to the long arm of
chromosome 15 [42]. Resistance occurs in the absence of a TSH receptor mutation
and can again cause thyroid hypoplasia [43]. Pseudohypoparathyroidism type 1a,
caused by mutations in the alpha subunit of the stimulatory guanine nucleotide
binding protein (Gs alpha), results in defective TSH signaling.

Thyroid dyshormonogenesis
Hereditary defects in virtually all the steps of thyroid hormone biosynthesis and
secretions have been described and account for 10-15% of permanent congenital
hypothyroidism. These are generally transmitted in an autosomal recessive manner,

but at least one condition has autosomal dominant inheritance. Dyshormonogenesis

leads to goitrous hypothyroidism; however, this is rarely seen in babies detected by
newborn screening [45].
Most commonly, dyshormonogenesis is due to defects of thyroid peroxidase
activity [46]. Thyroid peroxidase uses hydrogen peroxide to couple iodine to
thyroglobulin within the thyroid gland, forming T3 and T4. Severe defects in this
enzyme lead to total iodide organification defects (TIOD). This diagnosis is made
by showing high radioactive iodine (RAI) uptake of the thyroid gland followed by
more than 90% release after sodium perchlorate administration [47] (see section on
diagnosis). Less severe mutations cause partial iodide organification defects
(PIOD). Pendred's syndrome is a well known form of syndromic hypothyroidism
and is characterized by a triad of hypothyroidism, goiter and deafness. This
syndrome is caused by a genetic defect in the transmembrane protein pendrin
(encoded on 7q31), which acts as a chloride-iodide transporter in both in the
thyroid gland and the inner ear. Defects in pendrin lead to impaired iodide
organification and these patients have a positive perchlorate discharge test [21].
More

recently,

mutations

in

the

enzyme

dual

oxidase

(known

as DUOX2 or THOX2) have been found. They lead to dyshormonogenesis from

deficient hydrogen peroxide generation and can be autosomal dominant. Their
phenotype is heterogeneous and can be permanent or transient and cause either

total or partial iodide organification defects [48]. Mutations in the dual oxidase
maturation factor (DUOXA2) gene also lead to deficient iodide organification
through similar mechanisms and can cause partial iodide organification defects
[49]. Other, rare causes of dyshormonogenesis include defects in sodium/iodide
transport, resulting from a mutation in the gene encoding the sodium-iodide
symporter [50], and defective thyroglobulin action, resulting from a mutation in the
gene encoding thyroglobulin [51]. A defect in the enzyme iodotyrosine deiodinase
which aids in the peripheral conversion of T4 to T3 has been shown in hypothyroid
individuals.

This

can

be

due

to

homozygous

mutations

in

the

genes DEHAL1 or SECISBP2 [52,53].

.
Secondary or Central hypothyroidism
Congenital secondary or central hypothyroidism generally results from defects of
TSH production; most commonly, it is part of a disorder causing congenital
hypopituitarism. Congenital hypopituitarism often is associated with midline
defects such as septo-optic dysplasia or cleft lip and/or palate and can be part of a
larger genetic syndrome. Mutations in genes regulating pituitary gland
development, which include HESX1, LHX3, LHX4, PIT1 and PROP1 have been
reported to be a cause of familial hypopituitarism. Besides TSH deficiency, other

pituitary

hormones

are

often

deficient,

including

growth

hormone,

adrenocorticotrophic hormone and antidiuretic hormone. Rarely, specific gene

defects lead to central hypothyroidism. These include isolated TSH deficiency
(autosomal recessive, caused by mutations in the TSH subunit gene), and
thyrotropin releasing hormone (TRH) resistance, resulting from mutations in the
TRH receptor gene (see Table Table33).
.
Peripheral defects in thyroid hormone metabolism
Passage of thyroid hormone into cells is facilitated by thyroid hormone plasma
membrane transporters. A mutation in a gene encoding monocarboxylase
transporter 8 (MCT8) has been reported in five boys as a cause of X-linked
hypothyroidism associated with mental retardation and neurologic abnormalities
including quadriplegia. The defective transporter appears to impair the passage of
T3 into neurons and is characterized by elevated serum T3 levels, low T4 and
normal TSH [54]. This is also known as Allan-Herndon-Dudley syndrome.
Peripheral resistance to the action of thyroid hormone has been described. This is
due in 90% of cases to mutations in genes encoding for thyroid hormone receptor
(TR ). These mutations are dominantly inherited and affected individuals are
generally euthyroid, however some hypothyroid individuals have been described.

Circulating T3 and T4 are mildly elevated without suppression of TSH. Thus these
infants are usually not detected by newborn screening [55].
.
Transient congenital hypothyroidism
Transient congenital hypothyroidism is found to be more common in Europe
(1:100) than the United States (1:50,000) [3]. In a report of over twenty years in
the French newborn screening program, the incidence of transient congenital
hypothyroidism was found to be 40 percent [3]. Causes of transient congenital
hypothyroidism include:
Iodine deficiency - Iodine deficiency is more common in European countries,
especially in preterm infants; this is due mainly to maternal iodine deficient diets
[3,12,56].
Transfer of maternal blocking antibodies - Maternal antithyroid antibodies can
cross the placenta and block the TSH receptor in the neonatal thyroid. This effect
can last up to 3 to 6 months after birth as maternal antibody levels fall [57,58].
Fetal exposure to antithyroid drugs - Maternal antithyroid drugs can cause
decreased neonatal thyroid hormone synthesis which lasts for a few days to two
weeks after birth.

 Maternal iodine exposure - Maternally administered amiodarone may cause

transient hypothyroidism in their infants. This seems to resolve at around 4-5
months of age and can be associated with adverse neurologic outcomes [59].
Transient hypothyroidism also occurs when iodine antiseptic compounds are used
on mothers or after exposure to iodinated contrast agents; however, this may be
related to the type and duration of exposure as a recent study showed no abnormal
thyroid functions in the infants of 21 mothers given iodide contrast during
pregnancy [60].
Neonatal Iodine exposure - Exposure of newborns to high amounts of iodine can
cause hypothyroidism. This can occur especially in preterm infants[61].
Liver hemangiomas - There are reports of congenital liver hemangiomas that
produce large amounts of the enzyme type 3 iodothyronine deiodinase. This
produces a consumptive type of hypothyroidism in which large doses of thyroxine
are required to maintain euthyroidism. Serum T4 levels are low, TSH is elevated,
and reverse T3 levels are also increased. Hypothyrodism resolves as the tumor
involutes or is treated [62].
Mutations in DUOX2 (THOX2) and DUOXA2 can lead to transient congenital
hypothyroidism as previously described [48,49].
.

Diagnosis
In those countries with newborn screening programs in place, essentially all infants
with congenital hypothyroidism are diagnosed after detection by newborn
screening tests. Screening programs have been developed in Canada, the United
States, parts of Mexico, Western Europe, Japan, Australia, New Zealand, and
Israel, and they are under development in parts of many countries in Eastern
Europe, Asia, South America and Africa. Of the worldwide birth population of 127
million, it is estimated that 25 percent undergo screening for congenital
hypothyroidism. In infants born in locations without newborn screening programs,
diagnosis may be made after development of clinical manifestations of
hypothyroidism.
.
Newborn thyroid screening tests
The specimen used for newborn screening tests is blood from a heel-prick
collected on special filter paper cards. The specimen is routinely collected between
two and five days of age (or at discharge from the hospital, if this occurs earlier);
some programs use cord blood for screening. In addition, some programs also
routinely obtain a 2 nd specimen between two and six weeks of age. The filter paper
cards are then sent to a centralized laboratory for testing. Early in the experience of

screening, most programs undertook an initial T4 test, with a follow-up TSH test
on infants below a specified T4 cutoff [2]. With increasing accuracy of TSH
measurement, many screening programs now carry out an initial TSH test to detect
congenital hypothyroidism. Each program must develop its own T4 and TSH
cutoff for recall of infants with abnormal test results (see Figure Figure4,4,
Diagnostic algorithm). As there are rapid changes in TSH and T4 in the first few
days of life, many programs have developed age-related cutoffs. Following are
examples of typical cutoffs for T4 and TSH:

Figure 4
Congenital hypothyroidism: Diagnostic algorithm. Diagnostic algorithm: the
diagnosis of congenital hypothyroidism begins with either abnormal newborn
screening test results or a clinical suspicion of hypothyroidism, leading to serum
thyroid function tests ...
Initial T4 < 10 th percentile follow-up TSH test
Initial TSH > 30 mU/L serum (> 15 mU/L whole blood)); some programs use an
upper percentile TSH cutoff, e.g., > 97 th percentile

Both of the above screening test approaches will detect the majority of infants with
primary congenital hypothyroidism. There are some advantages and disadvantages
with each approach in the detection of other thyroid disorders. Both screening test
approaches do a good job of detecting infants with primary CH. The primary T4follow-up TSH test strategy will detect some infants with secondary or central
(hypopituitary) hypothyroidism and infants with "delayed TSH rise". On the other
hand, a primary TSH test strategy will detect infants with mild or "subclinical"
hypothyroidism (see Table Table6).6). Neither test approach will detect infants
with defects of thyroid transport, metabolism, or action. With a goal of detecting
all of these thyroid disorders, some programs have undertaken pilot programs
measuring both T4 and TSH on all newborns. These programs tend to report a
higher incidence of congenital hypothyroidism [63].

Table 6
A comparison of the thyroid disorders detected by primary T4-follow-up TSH
testing vs. primary TSH testing
.

Confirmatory serum thyroid testing

Once an infant has been detected with abnormal thyroid screening tests, they
should be recalled immediately for examination, and a venapunctue blood sample
should be obtained for confirmatory serum testing (see Figure Figure4,4,
Diagnostic algorithm). Confirmatory serum is tested for TSH and either free T4 or
total T4 combined with some measure of binding proteins, such as a T3 resin
uptake.
It is important to compare the serum results with age-normal reference ranges. In
the first few days of life, serum TSH can be as high as 39 mU/L, as a result of the
TSH surge that occurs shortly after birth (this is the reason that the filter paper
screening test cutoff is approximately 30 mU/L). Most confirmatory serum tests
are obtained around one to two weeks of life, when the upper TSH range falls to
approximately 10 mU/L. The approximate normal reference ranges for serum free
T4, total T4, and TSH in the first 4 weeks of life are shown in Table Table7.7.
Although levels of all hormones are higher at 1-4 days of age, by 2-4 weeks of age
they have fallen closer to the levels typically seen in infancy.

Table 7
Reference ranges for thyroid function tests at ages 1-4 days and 2-4 weeks [64]

The finding of an elevated serum TSH level and a low free T4 or total T4 confirms
the diagnosis of primary hypothyroidism. The finding of an elevated serum TSH
with a normal free T4 or total T4 is consistent with subclinical primary
hypothyroidism. Because of the dependence of the developing brain on optimal
concentrations of thyroid hormone, we recommend treating infants with subclinical
hypothyroidism.
It is now recognized that preterm infants or acutely ill term infants with primary
hypothyroidism may not show an elevated TSH level on the 1 st screening test.
Thus, many programs undertake a routine 2 ndscreening test in preterm and acutely
ill term infants. Such testing leads to the detection of infants with "delayed TSH
rise", which occurs in approximately 1:18,000 newborns [64].
Those programs that undertake a primary T4 test and recall infants with
persistently low T4 screening levels, e.g. on the routine 1 st and 2 nd specimens
(without elevated TSH levels) detect some infants with secondary or central
hypothyroidism [65]. Confirmatory serum testing will show a low free T4 or total
T4, with either a low TSH or an "inappropriately normal" TSH level. In infants
with central hypothyroidism, the TSH deficiency may be isolated, as in infants
with TSH gene mutations. In most cases of central hypothyroidism, however,
TSH deficiency is associated with other pituitary hormone deficiencies. Such
infant should be investigated for other pituitary hormone deficiencies, particularly

if they have features such as hypoglycemia, which is suggestive of growth

hormone (GH) and/or ACTH deficiency, or micropenis and undescended testes in a
male, which are suggestive of gonadotropin (LH, FSH) deficiencies.
Some infants who undergo serum testing because of "low T4, non-elevated TSH"
screening test results will be discovered to have thyroxine binding globulin (TBG)
deficiency. Serum testing will show a low total T4, but a normal free T4 and
normal TSH level. TBG deficiency can be confirmed by finding a low serum TBG
level. TBG deficiency is an X-linked recessive disorder that occurs in
approximately 1:4,000 infants, primarily males [66]. These infants are euthyroid
and treatment is not necessary.
.
Diagnostic studies to determine an underlying etiology
Treatment of congenital hypothyroidism is based on serum thyroid function test
results, as outlined above. Other diagnostic studies may be undertaken to determine
an underlying etiology. Such diagnostic studies may include thyroid radionuclide
uptake and scan, thyroid ultrasonography, serum thyroglobulin (Tg) measurement,
antithyroid antibody determinations, and measurement of urinary iodine (see Table
Table8).8). Findings may guide treatment decisions in infants with borderline
serum test results, e.g., discovery of a form of thyroid dysgenesis. Results from

these tests will usually separate transient from permanent cases. If a familial form
of congenital hypothyroidism is discovered, this will guide genetic counseling. As
gene mutations have now been reported for virtually all steps in thyroid hormone
synthesis, the above diagnostic studies may lead to a specific genetic test to
confirm the underlying etiology. In addition, these diagnostic studies may be
performed routinely in programs that use this information for clinical
investigations. However, these diagnostic studies generally do not alter the
treatment decision, and so they are considered optional.

Table 8
Findings in diagnostic studies undertaken to identify the underlying etiology of
congenital hypothyroidism
.

NEED FOR THE STUDY

A JOURNEY OF A THOUSAND MILES MUST BEGIN WITH A SINGLE
STEP
Joney walker
Congenital malformations have been known and recognized for countries.
It is an estimating problem for research because of the high frequency of their
occurrence and the devastating effect they may have on the individual and his/her
family. Central nervous system anomalies are such anomalies which account for
the higher mortality among the newborn.11
There have been large variations in the incidence of central nervous system
defects in different parts of the World and at different periods. Neural tube defects
are malformations of the developing brain and spinal cord occurring during the
third to fourth week of gestation. 16
Neural tube defects top the list of birth defects in India contributing to both
morbidity and Mortality.12
World health organization (WHO) / United Nations Administrative
Committee on Nutrition stated that Iron and Folic acid deficiency affects more than
3.5 billion people in developing world. In developed countries the prevalence are

about 18 percentage in pregnant women and 12 percentage in non pregnant

women. 19
World literature review on NTD in European countries revealed highest
incidence from Ireland and Wales (6.38-10.92/1000 births). Other parts of the
World high prevalence of NTDs are Northern India and Northern China. 13
The incidence of NTDs in Sikhs living in British Columbia, Canada, was
reported to be 2.86/1000 while the overall rate was 1.86/1000 in that area. Michel,
et al quoted a higher incidence of NTDs in Indians living in the North Thames
(West) region of UK.21
Neural tube defects occur in about 1 in every 1,000 to 2,000 live births in
the United States, or in about 1,500 to 2,000 babies each year. The vast majority
(about 95 percent) of NTDs occur in families with no history of this disorder. 14
The studies reported that a NTDs incidence in India varies from 0.5 to
11/1000 births while the incidence in the USA and Europe is reported below
1/1000, with progressive decline with periconceptional folate fortification, barring
few countries like Ireland. The incidence tends to vary within various states of
India and is reported also higher in Indians living abroad. The northern states have
been consistently reporting a higher incidence compared to the southern states
except for Davangere, (Karnataka). 15

Prevalence of NTDs in the United States has been estimated at 7 per 10,000
Pregnancies (Spina bifida Association America). Approximately 3,000 pregnancies
are affected by NTDs in the United States each year and every women who can
become pregnant is at risk for an NTD affected pregnancy. Epidemiologist reveal
the prevalence data in US are 1 in 1000 births in the US ( not including occulta
defects) Anencephaly 3 to 7 in 10,000; Eacencephaly 1.4 in 10,000 ; Spina bifida
5.5 In 10,000; Meningocele 2 to 4 10,000.

16

Prevalence of NTD from different parts of India was reported to vary from
3.9 to 11/1000 births and more so in the northern states (Punjab, Haryana, Delhi,
Rajasthan, U.P, Bihar) (3.9-9.0 per /1000 births) compared to eastern, western
(5.0/1000 and southern part (<5.0/1000) of India. (2009). 21
The prevalence of NTDs among consanguineous and non consanguineous
marriage was 6.3-20.6/1000 and 5.9-8.4/1000 couple respectively. 17
The Centers for Disease Control and Prevention estimates that the birth
rates in 2005 for 2 of the most common neural tube defects, Spina bifida and
anencephaly, were 17.96 and 11.11 per 100 000 live births, respectively . 18
Reproductive and Child health (RCH) programme stressed importance of
folic acid in periconceptional period for the prevention of Neural tube defect. Dose
for the primary prevention is 0.4 mcg of folic acid per day. 19

Folic acid also known as folate is a B vitamin (B9) found in leafy

vegetables like spinach, kale, orange juice and whole grains. Taking 400
micrograms (0.4milligrams) daily before or during pregnancy reduces the risk of
your baby being born with neural tube defect (a birth defect which involves the
incomplete development of the brain and spinal cord) by 70%. Most birth defects
(the most common being Spina bifida) occurs during the first 28 days of
pregnancy- usually before a woman even knows she is pregnant. This is why it is
so important that any woman of child bearing age or who is planning to get
pregnant should get enough folic acid as more than 50% of pregnancies are not
planned. 20
The studies report that very elevated prevalence of neural tube defects (8.2
per 1,000 live births) in the Ballrampur District, Uttar Pradesh, India. Out of ten
cases reported, six were Spina bifida. They also stress the lack of planning for
NTD prevention by periconceptional folate supplementation in India and urge
Indias Ministry of Health to develop a comprehensive strategy to reduce the
instances of NTD without delay.

33

An updated guideline from the American College of Obstetrics and

Gynecology recommended periconceptual folic acid supplementation (0.4 mg) in a
multivitamin for most women capable of pregnancy. For a woman planning to

become pregnant and without a history of neural tube defects, the American
Academy of Family Physicians (AAFP) strongly recommends prescribing folic
acid supplementation of 0.4 to 0.8 mg/d. The AAFP also recommends prescribing
0.4 mg of folate supplementation to a woman of childbearing age if she is not
planning a pregnancy. The American College of Obstetrics and Gynecology, AAFP,
and most other organizations recommend 4 mg/d for women with a history of
neural tube defects. 21
The study result that nonpregnant female participants from age 15 to 49
years, indicate that 8 percentage of women consumed 400 g/d or more of folic
acid from fortified foods, and 26 percentage of women took 400 g/d or more of
folic acid through supplements within the previous month. Therefore, 34.3
percentage of women of reproductive age consumed 400 g/d or more through a
combination of fortified foods and supplements. 25
The study reported that the success of a 45 minute presentation among
female college student about Periconceptional nutrition and prevention NTD to
increasing knowledge about folic acid and NTD, raising scores on pretest to
posttest from 48 percentage correct to 86 percentage correct .One month following
the intervention, follow-up posttest score were still higher than the pretest.
Education to female student on prevention of neural tube defect in

Periconceptional period will help them to better understanding of these problems.

22

From above fact the investigator understood that the inadequate intake of
folic acid ,Vitamin B , B12 , Zinc and Calcium etc in periconceptional period lead
to neural tube defects. There fore researcher has chosen this topic to assess the
knowledge of the female student regarding the prevention of Neural tube defect in
periconceptional period to promote awareness among the female student by
providing planned teaching programme.

REVIEW OF LITERATURE:
Review of literature involve the selection of available documents on the
topic , which contain information , ideas and data and evidence written from a
particular stand point to fulfill certain aims or express certain views o the nature of
the topic and how is to be investigated and the effective evaluation on these
documents in relation to the research being proposed.
The literature review was based on extensive survey of publisher and
unpublished research studies, journal articles and non-research literature related to
the present study.
The review of literature is presented in the following order:
1

Studies related to Meaning of neural tube defect.

Studies related to types of neural tube defect.

Studies related to Incidence and prevalence of neural tube defect.

Studies related to etiology of neural tube defect

5
6

Studies related to prevention of neural tube defect in periconceptional period.

Studies related to the awareness among female college student regarding

prevention

of neural tube defect in periconceptional period.

1. Studies related to meaning of neural tube defect:

NTDs are serious birth defects of the brain and spine. There are two
common forms of NTDs, anencephaly and spinal bifida, which account for 90
percentage of all cases (Centers for Disease Control 2000), NTDs occur very early
in pregnancy, between 18 and 28 days post ovulation, often before a women knows
that she is pregnant. 24
The defect occurs when the Neural tube, which later becomes the brain
and spine, does not form or close completely. Anencephaly the condition that
results when the upper end of the Neural tube does not close completely and the
brain and the skull are missing or under developed is a fatal birth defect. (Seilet
2006) .The Spina bifida Association of America estimates that there are 70,000
people currently living with Spina bifida is the United State .24

2. Studies related to types of neural tube defect

There are two types of NTDs. The most common are called open type
NTDs, Open NTDs are occur when the brain and / or Spinal cord are exposed at
birth through a defect in the skull or vertebrae (back bone). E.g. of the open NTDs
are Spina bifida (myelomeningocele), Anencephaly and Enencephalocele. 25

Rare type of NTDs is called closed NTDs. Closed NTDs occur when the
Spinal bifida is covered by skin. Common examples of closed NTDs are
Lipomyelo-meningocele and lipomeningocele.

Spina bifida occulta (SBO) in

potentially another from of a NTDs in which there is a typically benign (non

symptom causing) bony change in one or more Vertebrae, but not involving the
nervous within the Spinal column. About 80% of those affected will have normal
intelligence, according to the Spina Bifida Association, but some will have learning
disabilities. 25
3. Studies related to incidence and prevalence of Neural tube defect
In US and World Wide an incidence of 0.9 0.6 per 1000 live birth is
reported. Kulkarni reported in a prospective births from November1985-1987 at
three hospital from Davngere, Karnataka), a total of 40 babies born with NTDs. the
study classified the defect with respect to the religion, where thirty three of the
babies were born to the group of 2684 Hindu mothers and seven to the 815 Muslim
mother (incidence 11.5 /1000 births) with respect to the social class, the study was
found to be significant and Seasonal variations were found. 26
A study reported that the risk after having one male affected was 0.058 and
after having one female affected, it was 0.051. He also reported that after and
affected sibs, the risk for a third two affected female to 0.16 for female birth after

two affected male. The frequency of neural tube malformations among all births ,
live or still births ,was found to be higher among female than the male. 27
A study reported that the highest frequency of NTD was observed in North
India, in Amritsar, Chandigarh, Delhi, Japer, Udaipur and Ajmer. The combined
rate for anencephaly and Spina bifida was greater than 0.5 per/1000 births. The
high frequency was compared to the rate observed among the high risk
communities in the world like the Irish and Egyptains, and the author reported that
these defect are low among Negros and Mongolians .In USA and Japan showed
that the incidence of NTD was 9.6 and 9.0 per 1000 among spontaneous abortions
and therapeutic abortion respectively as against to 2.0 per 1000 at births .the rate
was less than this for all the Centers in south India except for Davangere,
Hyderabad and Pandichery.

28

3. Studies related to etiology of neural tube defect:

The studies show etiology as multifactorial / polygenic trait. Where NTDs
could be caused by one or more genes interacting with environmental factors ,
which include multiparty , chemicals

and drugs materials illness (Diabetes

mellitus) , temperature, obesity , leads to drinking water ,occupational hazard, poor

nutrient content diet etc .among the environmental factors , folic acid deficiency
has proved. 29
A prospective study was conducted over a period of one year in the city of
Al Madinah in Saudi Arabia detected 18 cases of Spina Bifida. The incidence was

1.09 per 1000 live births, the male to female ratio 2:1 and the increase in the
incidence is attributed to cansanguinity which was found to be in 89% of the Spina
Bifida parents as compared with the 67% of the control. 30
A study reported 25% of the 64 mother were on folate supplementing during
affected pregnancy, to prove that the NTD is closely related to folic acid defiency.
Double blind randomized trial of Medical Research Council, Great Britain shows
that supplementation of 5mg per day for at least one month prior to conception to 3
months post conception reduce the risk of reoccurrence of NTD by 70% .31
4. Studies related to prevention of neural tube defect in periconceptional
period.

A case control study on neural tube defect of neonate and folic acid
awareness .and conducted

in teaching hospital in Sri Lanka, during the study

period 14,580 live births took place at GH Kandy and twenty of them had NTDs.
The number of babies with NTDs transferred from other hospitals was 30. The
control group comprised 150 mothers with normal babies. Fourteen (28%) of the
affected group were able to idenyify folic acid tablet as a vitamin taken during
pregnancy, in comparison to 87 (58%) of the control group. One (2%) from the
affected group and 70 (46%) from the control group knew about the value of preconceptional FA .None of the affected mothers had used FA pre-conceptionaly

where as 54 (26%) of the control group mother believed that folic acid helped in
preventing birth defects. 31
A prospective study, conducted at M G H Medical College and My
Hospital, Indore M P between October 2008- 2009. Total 52 cases of Spina bifida
admitted in the hospital were evaluated about maternal antenatal history, folic acid
intake, birth order, family history & socio-economic status. Out of the total 52
cases, 20 belong to 2nd birth order, 16 belong to 1st birth order, 10 belong to 3rd
birth order, 5 belong to 4th birth order & 1 belong to 5th birth order. Maternal folic
acid intake was not found in all cases during preconception & 1st month of
gestation. Two mothers gave history of viral fever during 2nd month of gestation.
Family history was not found in any case. All except 2 cases belong to low socioeconomic status.

32

A retrospective study, suggest that the association of folic acid

supplementation with twinning is the result of confounding by infertility treatment
and by differential reporting of folic acid use. This study examined the association
between risk for twinning in 176 042 women and exposure to a multivitamin or
folic acid supplementation before or during pregnancy. After adjustment for age
and parity, the authors reported an OR of 1.59 for twin delivery after
periconceptional folic acid supplementation. After accounting for the under
reporting of folic acid use and in vitro fertilization, the or for twin delivery after

preconceptional supplementation decreased to 1.02 and was no longer statistically

significantly greater than the risk for women who did not take folic acid. 34
A cohort study shows that women who were considering pregnancy and
gave them multivitamins containing 0.8 mg (800 g) of folic acid 1 month before
planned conception. The authors reported a protective effect of folic acid against
neural tube defects: 1 neural tube defect occurred in 3056 women who took folic
acid supplements and 9 occurred in 3056 women who did not. The difference
between the supplemented and unsupplemented groups was statistically significant
after adjustment for birth order, chronic maternal disorders, and history of fetal
death or congenital abnormality.34
The U.S. Public Health Service recommended the daily consumption of
0.4 mg (400 g) of folic acid in women of childbearing age (15 to 44 years). In
1996, the USPSTF made a similar recommendation on the basis of several studies,
including large randomized, controlled trial (RCT) that demonstrated a statistically
significant reduction in incidence of neural tube defects in women who took a
multivitamin with 0.8 mg (800 g) of folic acid in the periconceptional period. The
USPSTF recommended that all women planning pregnancy take a daily
multivitamin containing folic acid at a dose of 0.4 to 0.8 mg beginning at least 1
month before conception and continuing through the first trimester, to reduce the
risk for neural tube defect. 35

5. Studies related to the awareness among female college student regarding

prevention of neural tube defect in periconceptional period
A questionnaire-based study conducted a study on the level of awareness
among female college students on the importance of preconception folic acid
supplementation in preventing neural tube defects (NTDs). Five hundreds
questionnaires were distributed to the female students of the 3 colleges, namely,
Humanities, Sciences, and Health in Jeddah, Kingdom of Saudi Arabia in April
2008. Two hundred and seventeen questionnaires were filled, and returned
(43.4%). Mean age +/- SD was 20.96 +/- 2.25 years. Almost 88% were not aware
of the importance of folic acid in preventing NTDs. After listening to the lecture,
82.9% thought that they will surely use folic acid preconception, and 98.6% will
relay the important message about the importance of folic acid to others. Similar
educating programme are required, in order to decrease the high rate. 36
A study was conducted to assess the knowledge of neural tube defect
(NTD) prevention by folic acid and periconceptional practices in young women.
Young minority women were enrolled in a folic acid program at 3 urban Houston,
Texas, reproductive health clinics and assessed for NTD knowledge and preventive
practices. A 3-month supply of multivitamins was also dispensed at enrollment. A
3-month program follow-up survey of a randomly selected sample at 2 sites was

conducted. Of 387 women (mean age: 18 1.9 years), 72% were black and 28%
were Hispanic. At enrollment, clinics were a major source of information of NTD
prevention (44%); 52% had heard of folic acid, 45% had heard of NTDs, and 50%
had heard of birth defects prevention by multivitamins. Significantly more
Hispanic than black young women had heard of NTDs (59% vs. 39%). Pregnancy
history, regular birth control use, and education level for age were independently
associated with knowledge. In young women with low education level for age,
regular birth control use was significantly associated with knowledge. At
enrollment, daily multivitamin intake was very low (9%) and folate-rich foods
were consumed in inadequate amounts. Adequate folate diet was not associated
with knowledge. The program follow-up survey indicated that 88% to 92% had
knowledge of NTDs and folic acid, and 67% reported taking a daily multivitamin.
Preliminary evidence suggests that a promotion program improves knowledge, and
dispensing of multivitamins increases multivitamin use. 37
A study was conducted to ascertain knowledge of periconceptional folate
for prevention of neural tube defect (NTD) and to estimate folate intake in young
women. Three hundred young women were questioned about their knowledge of
folate for prevention of NTD. Their folate intake was assessed by food frequency
questionnaire. Fourteen per cent of 1619 year olds and 41% of undergraduates
were aware of the need to increase folate intake before conception. Median folate

intake was estimated to be 235 g/day in 1619 year olds and 248.5 g/day in
undergraduates. More than a quarter of women in both groups had folate intakes
less than the reference nutrient intake (RNI) (200 g/d) below which prevalence of
NTD rises dramatically and these women would therefore be at increased risk of
having a child with NTD should they have an unplanned pregnancy. Strategies are
required to increase folate intake among young women and inform them of the
benefit of periconceptional folate supplementation. 38

METHODOLOGY
STATEMENT OF THE PROBLEM:
A study on effectiveness of planned teaching programme on prevention
of Neural tube defect in periconceptional period among female student at selected
college in Bangalore.

OBJECTIVES OF THE STUDY:

1. To assess the knowledge of female student regarding prevention of Neural
tube defect in periconceptional period before planned teaching programme.
2. To evaluate the effectiveness of planned teaching programme on prevention
of Neural tube defect in periconceptional period among female student.
3. To determine the relationship between the socio-demographic variables and
knowledge of the female student.

HYPOTHESIS:

H 1:

There is a significant relationship between planned teaching programme and

level of knowledge among female student regarding prevention of Neural tube

defect in periconceptional period.

H 2:

There is a significant association between the levels of knowledge among

female student regarding prevention of Neural tube defect in periconceptional

period and selected demographic variable
OPERATIONAL DEFINITIONS:
Knowledge: Information possessed by final year student about the prevention of
Neural tube defect.
Effectiveness: Improvement in the level of knowledge of female student after
planned teaching programme on prevention of neural tube defect in
periconceptional period measured by self administered questionnaire.
Planned teaching programme: It refers to organized group teaching for 30-45
min, through lecture cum discussion method using flash card to impart knowledge
for the final year female student regarding prevention of neural tube defect in
periconceptional period.

Neural tube defect:

Neural tube defects are the most structural congenital

anomalies and imply a failure of proper closure of neural tube and covering
mesoderm and ectoderm.
Periconceptional period: Periconceptional period is period start from first three
month before conception and after three month of conception.
ASSUMPTIONS:
1. Female student have inadequate knowledge on prevention of neural tube
defect in periconceptional period.
2. Socio demographic variables influence the level of knowledge of the female
student regarding prevention of Neural tube defect in periconceptional
period.
3. Mass media influences the level of female student regarding prevention of
neural tube defect in periconceptional period.

MATERIALS AND METHOD:

SOURCES OF DATA: Data will be collected from female student from selected
college, Bangalore.

METHOD OF DATA COLLECTION PROCEDURE:

RESEARCH APPROACH: Non- experimental approach.
RESEARCH DESIGN: Quasi experimental design.
SAMPLING TECHNIQUE: Convenience sampling technique will be used.
SAMPLE SIZE: Sample size 60
SETTING OF THE STUDY: The study will be conducted in selected College
at Bangalore.

VARIABLE UNDER STUDY:

In this study three are two variables such as dependent variable and
independent variable.
DEPENDENT VARIABLE:

In present study dependent variable is the knowledge regarding prevention

of Neural tube defect.
INDEPENDENT VARIABLE:
In this independent variable considered as planned teaching
programme.

SAMPLING CRITERIA:
Inclusion criteria:
1.
2.
3.
4.

Female student who are in the final year.

Female student who are willing to participate in the study.
Female student who are able to read & write English and Hindi.
Female student who are in age between 20 -25 years.

Exclusion criteria:
1.

Final year female student with history of mental illness.

DATA COLLECTION TOOL

Tool:
A self administered questionnaire will be prepared to assess the knowledge
of final year student regarding prevention of neural tube defect in periconceptional
period at selected college in Bangalore.
Questionnaire will consist of two sections:
Section A: Items on socio demographic variables such as age, sex, education,
occupation, type of family, etc.
Section B: Items on assessment of level of knowledge among female college
student regarding prevention of Neural tube defect.
VALIDITY:
The validity of the tool will be ascertained in consultation with guide and
other expert from various fields like nursing, gynecologists, nutritionist and
biostatisticians.
DATA ANALYSIS METHODS:
Data analysis will be done by descriptive and inferential statistics.

7.3. DOES THE STUDY REQUIRE ANY INVESTIGATION OR

INTERVENTIONS TO BE CONDUCTED ON PATIENTS OR OTHER
HUMAN OR ANIMALS?
No. Only self administered questionnaire will be used for data collection.
No other invasive or laboratory procedures will be conducted on the samples.
7.4. HAS ETHICAL CLEARENCE BEEN OBTAINED?
The ethical clearance will be obtained. Confidentiality & anonymity of
subjects will be maintained. Consent will be taken from female student before
conducting the study.

DISCUSSION
Congenital malformations have been known and recognized for countries. It is an
estimating problem for research because of the high frequency of their occurrence
and the devastating effect they may have on the individual and his/her family.
Central nervous system anomalies are such anomalies which account for the higher
mortality among the newborn.11
There have been large variations in the incidence of central nervous system
defects in different parts of the World and at different periods. Neural tube defects
are malformations of the developing brain and spinal cord occurring during the
third to fourth week of gestation. 16
Neural tube defects top the list of birth defects in India contributing to both
morbidity and Mortality.12
World health organization (WHO) / United Nations Administrative
Committee on Nutrition stated that Iron and Folic acid deficiency affects more than
3.5 billion people in developing world. In developed countries the prevalence are
about 18 percentage in pregnant women and 12 percentage in non pregnant
women. 19

World literature review on NTD in European countries revealed highest

incidence from Ireland and Wales (6.38-10.92/1000 births). Other parts of the
World high prevalence of NTDs are Northern India and Northern China. 13
The incidence of NTDs in Sikhs living in British Columbia, Canada, was
reported to be 2.86/1000 while the overall rate was 1.86/1000 in that area. Michel,
et al quoted a higher incidence of NTDs in Indians living in the North Thames
(West) region of UK.21
Neural tube defects occur in about 1 in every 1,000 to 2,000 live births in
the United States, or in about 1,500 to 2,000 babies each year. The vast majority
(about 95 percent) of NTDs occur in families with no history of this disorder. 14
The studies reported that a NTDs incidence in India varies from 0.5 to
11/1000 births while the incidence in the USA and Europe is reported below
1/1000, with progressive decline with periconceptional folate fortification, barring
few countries like Ireland. The incidence tends to vary within various states of
India and is reported also higher in Indians living abroad. The northern states have
been consistently reporting a higher incidence compared to the southern states
except for Davangere, (Karnataka). 15
Prevalence of NTDs in the United States has been estimated at 7 per 10,000
Pregnancies (Spina bifida Association America). Approximately 3,000 pregnancies

are affected by NTDs in the United States each year and every women who can
become pregnant is at risk for an NTD affected pregnancy. Epidemiologist reveal
the prevalence data in US are 1 in 1000 births in the US ( not including occulta
defects) Anencephaly 3 to 7 in 10,000; Eacencephaly 1.4 in 10,000 ; Spina bifida
5.5 In 10,000; Meningocele 2 to 4 10,000.

16

Prevalence of NTD from different parts of India was reported to vary from
3.9 to 11/1000 births and more so in the northern states (Punjab, Haryana, Delhi,
Rajasthan, U.P, Bihar) (3.9-9.0 per /1000 births) compared to eastern, western
(5.0/1000 and southern part (<5.0/1000) of India. (2009). 21
The prevalence of NTDs among consanguineous and non consanguineous
marriage was 6.3-20.6/1000 and 5.9-8.4/1000 couple respectively. 17
The Centers for Disease Control and Prevention estimates that the birth
rates in 2005 for 2 of the most common neural tube defects, Spina bifida and
anencephaly, were 17.96 and 11.11 per 100 000 live births, respectively . 18
Reproductive and Child health (RCH) programme stressed importance of
folic acid in periconceptional period for the prevention of Neural tube defect. Dose
for the primary prevention is 0.4 mcg of folic acid per day. 19
Folic acid also known as folate is a B vitamin (B9) found in leafy
vegetables like spinach, kale, orange juice and whole grains. Taking 400

micrograms (0.4milligrams) daily before or during pregnancy reduces the risk of

your baby being born with neural tube defect (a birth defect which involves the
incomplete development of the brain and spinal cord) by 70%. Most birth defects
(the most common being Spina bifida) occurs during the first 28 days of
pregnancy- usually before a woman even knows she is pregnant. This is why it is
so important that any woman of child bearing age or who is planning to get
pregnant should get enough folic acid as more than 50% of pregnancies are not
planned. 20

CONCLUSION
A study was conducted to assess the knowledge of neural tube defect (NTD)
prevention by folic acid and periconceptional practices in young women. Young
minority women were enrolled in a folic acid program at 3 urban Houston, Texas,
reproductive health clinics and assessed for NTD knowledge and preventive
practices. A 3-month supply of multivitamins was also dispensed at enrollment. A
3-month program follow-up survey of a randomly selected sample at 2 sites was
conducted. Of 387 women (mean age: 18 1.9 years), 72% were black and 28%
were Hispanic. At enrollment, clinics were a major source of information of NTD
prevention (44%); 52% had heard of folic acid, 45% had heard of NTDs, and 50%
had heard of birth defects prevention by multivitamins. Significantly more
Hispanic than black young women had heard of NTDs (59% vs. 39%). Pregnancy
history, regular birth control use, and education level for age were independently
associated with knowledge. In young women with low education level for age,
regular birth control use was significantly associated with knowledge. At
enrollment, daily multivitamin intake was very low (9%) and folate-rich foods
were consumed in inadequate amounts. Adequate folate diet was not associated
with knowledge. The program follow-up survey indicated that 88% to 92% had
knowledge of NTDs and folic acid, and 67% reported taking a daily multivitamin.

Preliminary evidence suggests that a promotion program improves knowledge, and

dispensing of multivitamins increases multivitamin use.
1. Female student have inadequate knowledge on prevention of neural tube
defect in periconceptional period.
2. Socio demographic variables influence the level of knowledge of the female
student regarding prevention of Neural tube defect in periconceptional period.
3. Mass media influences the level of female student regarding prevention of
neural tube defect in periconceptional period.

SUMMARY
Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present
at birth. Thyroid hormone deficiency at birth is most commonly caused by a
problem with thyroid gland development (dysgenesis) or a disorder of thyroid
hormone biosynthesis (dyshormonogenesis). These disorders result in primary
hypothyroidism. Secondary or central hypothyroidism at birth results from a
deficiency of thyroid stimulating hormone (TSH). Congenital TSH deficiency may
rarely be an isolated problem (caused by mutations in the TSH subunit gene), but
most commonly it is associated with other pituitary hormone deficiencies, as part
of congenital hypopituitarism. Peripheral hypothyroidism is a separate category
resulting from defects of thyroid hormone transport, metabolism, or action.
Congenital hypothyroidism is classified into permanent and transient CH.
Permanent CH refers to a persistent deficiency of thyroid hormone that requires
life-long treatment. Transient CH refers to a temporary deficiency of thyroid
hormone, discovered at birth, but then recovering to normal thyroid hormone
production. Recovery to euthyroidism typically occurs in the first few months or
years of life. Permanent CH can be further classified into permanent primary and
secondary (or central) CH; transient primary CH has also been reported. In
addition, some forms of CH are associated with defects in other organ systems;
these are classified as syndromic hypothyroidism.

The underlying etiology of CH typically will determine whether hypothyroidism is

permanent or transient, primary, secondary, or peripheral, and whether there is
involvement of other organ systems (see section on Etiology for details). The
primary emphasis of this review is a discussion of primary CH, but there also will
be some discussion of secondary or central CH. It should be borne in mind that an
underlying etiology may not be determined for many cases of CH. Further, while
the exact cause of some cases of thyroid dysgenesis is known, e.g., a mutation in
the TTF-2 gene, mutations in genes encoding such transcription factors important
in thyroid gland development have been found in only 2% of cases. Thus, an exact
cause for the vast majority of cases of thyroid dysgenesis remains unknown. This
has not been a significant issue, however, as management of CH is based on
restoring thyroid function to normal, not necessarily knowing the exact underlying
cause.

BIBLIOGRAPHY

REFERENCES
Alm J, Larsson A, Zetterstrom R. Congenital hypothyroidism in Sweden. Incidence
and age at diagnosis. Acta PaediatrScand. 1978;67(1):13. doi: 10.1111/j.16512227.1978.tb16268.x. [PubMed] [Cross Ref]
Fisher DA. Second International Conference on Neonatal Thyroid Screening:
progress

report.

JPediatr.

1983;102(5):653654.

doi:

10.1016/S0022-

3476(83)80228-5. [PubMed] [Cross Ref]

Gaudino R, Garel C, Czernichow P, Leger J. Proportion of various types of thyroid
disorders among newborns with congenital hypothyroidism and normally located
gland: a regional cohort study. ClinEndocrinol(Oxf) 2005;62(4):444448.
[PubMed]
Skordis N, Toumba M, Savva SC, Erakleous E, Topouzi M, Vogazianos M,
Argyriou A. High prevalence of congenital hypothyroidism in the Greek Cypriot
population:

results

of

the

neonatal

screening

program

1990-2000.

JPediatrEndocrinol. 2005;18(5):453461. [PubMed]

Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and
in the United States. MolGenetMetab. 2007;91(3):268277. [PubMed]
LaFranchi SH, Murphey WH, Foley TP Jr, Larsen PR, Buist NR. Neonatal
hypothyroidism detected by the Northwest Regional Screening Program.
Pediatrics. 1979;63(2):180191. [PubMed]
Devos H, Rodd C, Gagne N, Laframboise R, Van Vliet G. A search for the possible
molecular mechanisms of thyroid dysgenesis: sex ratios and associated
malformations. JClinEndocrinolMetab. 1999;84(7):25022506. [PubMed]

LaFranchi SH. Hypothyroidism. PediatrClinNorth Am. 1979;26(1):3351.

[PubMed]
Kaplan SA. In: Clinical pediatric endocrinology. 2. Solomon A Kaplan, editor.
Philadelphia: Saunders; 1990. 1990.
Vulsma T, Gons MH, de Vijlder JJ. Maternal-fetal transfer of thyroxine in
congenital hypothyroidism due to a total organification defect or thyroid agenesis.
NEnglJMed. 1989;321(1):1316. [PubMed]
Calvo R, Obregon MJ, de Ona Ruiz C, del Rey Escobar F, de Escobar Morreale G.
Congenital hypothyroidism, as studied in rats. Crucial role of maternal thyroxine
but not of 3,5,3'-triiodothyronine in the protection of the fetal brain. JClinInvest.
1990;86(3):889899. [PMC free article] [PubMed]
Delange F. Neonatal screening for congenital hypothyroidism: results and
perspectives. HormRes. 1997;48(2):5161. doi: 10.1159/000185485. [PubMed]
[Cross Ref]
Alm J, Hagenfeldt L, Larsson A, Lundberg K. Incidence of congenital
hypothyroidism: retrospective study of neonatal laboratory screening versus
clinical symptoms as indicators leading to diagnosis. BrMedJ(ClinResEd)
1984;289(6453):11711175. [PMC free article] [PubMed]
Grant DB, Smith I, Fuggle PW, Tokar S, Chapple J. Congenital hypothyroidism
detected by neonatal screening: relationship between biochemical severity and
early clinical features. ArchDisChild. 1992;67(1):8790. [PMC free article]
[PubMed]

Abu EO, Bord S, Horner A, Chatterjee VK, Compston JE. The expression of
thyroid hormone receptors in human bone. Bone. 1997;21(2):137142. doi:
10.1016/S8756-3282(97)00097-5. [PubMed]