Birth defects are a global problem, but their impact is particularly severe in middle and low income countries where more than 94 percent of the births with serious birth defects and 95 percent of the deaths of these children occur. Serious birth defect can be lethal. For those who survive, these disorders can cause lifelong mental, physical, auditory or visual disability. The report shows that at least 3.3 million children under five years of age die from birth defects each years. More than 70% of birth defects can be prevented. Educate the community about the birth defects and the opportunities for effective care and prevention.

1. Neural Tube Defects
Importance of Folic Acid
and Vitamin B12 Intake
during First Trimester
Vijaya Sawant
Director Oratechsolve Inc
www.oratechsolve.com

2. Birth Defects Statistics
• Every year, about 7.9 million infants (6% of worldwide births) are born
with serious birth defects.
• 3.3 million children under five years of age die from birth defects each
year.
• Estimated 3.2 million of these children are disabled for life.
• Severe impact in middle and low income countries where more than 94
% of birth with serious birth defects and 95% of the deaths of these
children occur.
• Neural tube defects (323,904) constitute one of the common forms of
multifactorial congenital malformation with recorded birth prevalence as
high as 6 per 1,000 live births in China. In US, NTD is known to affect 1
out of 1000 live birth.
• 70% of birth defects can be prevented or can be offered life saving care
or reduce the severity of disability

3. Pattern of Neural Tube Defects (NTD) in
Ethiopia
• The overall statistics on NTD in Ethiopia are not available due to scarcity of
information and reporting system. The burden of diseases is high in low
socioeconomic countries.
• As per PubMed article, study was undertaken in Jan 2001 to Jun 2005 in
Ethio Swedish Children’s Hospital, the most common Neural Tube Defects
seen are:
64.4 % Myelomeningocele
18.3 % Meningovele
13 % Encephalocele
28.7 % Associated anomalies like clubfoot undescended testis, different
types of hernias, hydroceles
http://www.ncbi.nlm.nih.gov/pubmed/19743784

4. Embryo Development
(Embryogenesis)
2 Week 4 Week
Implantation begins the first week and embryo continues to grow.
The embryo is about 1/100 of an inch long.
The embryo is about 1/6 inch long and has
developed a head and a trunk.

5. Neural Development
(neurogenesis)
Peak time of occurrence Developmental event
Primary neurulation (dorsal induction) 3-4 weeks antenatally
Primary neurulation (dorsal induction) 5-6 weeks antenatally
Neuronal proliferation
Cerebral 2-4 months antenatally
Cerebellar 2-10 months postnatally
Neuronal migration
Cerebral 3-5 months antenatally
Cerebellar 4-10 months antenatally
Neuronal differentiation
Axon outgrowth 3 months-birth
Dendritic growth and synapse formation 6 months-1 year postnatally
Synaptic rearrangement Birth-years postnatally
Myelination Birth-years postnatally
FUNCTIONAL TEST FOR FETAL BRAIN: THE ROLE OF KANET TEST 10.5005/JP-JOURNALS- 10009-1309
The presentation focuses on what changes are happening in embryo during first 3-4 weeks after conception to
form Central Nervous System.

6. Neural Plate
The Neural plate is a key
developmental structure that serves
as the basis for nervous system. The
neural plate appears on the 17th day
after conception as a thickening of
the embryonic ectoderm over the
notochord. The formation of the flat,
thickened layer of ectodermal cells
known as the neural plate. This
neuroectoderm gives rise to the
central nervous system.

7. Primary Neurulation
Primary neurulation begins after the
neural plate forms. On day 18, the
edges of the neural plate start to
thicken and lift upward, forming the
neural folds. The centre of the
neural plate remains grounded,
allowing a U-shaped neural groove
to form. The neural groove
gradually deepens as the neural
folds become elevated, and
ultimately the folds meet and
coalesce in the middle line and
convert the grove into a closed
neural tube. This neural groove sets
the boundary between the right and
left sides of the embryo. The
ectodermal wall forms the rudiment
of the nervous system.

8. Neural Tube
Neural tube is the embryo’s precursor to the
central nervous system which comprises the
brain and spinal cord.
Different portions of the neural tube form by two
different processes: primary neurulation and
secondary neurulation
In primary neurulation, the neural plate
creases inward until the edges come in
contact and fuse. It divides the ectoderm
into three cell types:
• Internally located neural tube
• Externally located epidermis
• Neural crest cells, which develop in theregion between the neural tube andepidermis but then migrate to newlocation
In secondary neurulation, the cells of the
neural plate form a cord-like structure that
migrates inside the embryo and hollows to
form the tube.
http://en.wikipedia.org/wiki/Neural_tube

9. Neural Tube Closure
The sequence of events begins with neural tube
closure (closure 1), which is initiated at the
hindbrain/cervical boundary (double asterisks).
Neural tube closure spreads rostrally and caudally
from this site. A second de novo closure event
(closure 2) occurs at the forebrain/midbrain
boundary (single asterisk), although more rostral
and caudal locations of closure 2 occur in some
strains (dashed lines and arrows). Closure also
initiates separately at the rostral extremity of the
forebrain (closure 3). Neurulation progresses
caudally from closure 3 to meet the rostral spread
of fusion from closure 2, with completion of
closure at the anterior (or rostral) NEUROPORE.
The spread of closure caudally from closure 2
meets the rostrally directed closure from closure 1
to complete closure at the hindbrain neuropore.
The caudal spread of fusion from closure 1
progresses along the spinal region over a 36-hour
period, with final closure at the posterior (or
caudal) neuropore. Secondary neurulation
proceeds from the level of the closed posterior
neuropore, through canalization in the tail bud
(shaded area). The cranial end of the neural tube
closes by 24 days and the caudal by 25-26 days.
Then, the neural tube is covered dorsally by
mesenchyme that forms the vertebral arches and
skull. Closure of the vertebral arches is completed
at 11 weeks of gestation. http://www.nature.com/nrg/journal/v4/n10/fig_tab/nrg1181_F1.html

10. Neural Tube Defect
The cells of the neural plate make up the fetus’
nervous system. In normal development, they fold
back onto themselves in order to create what is
called the neural tube, which then becomes the
back bone and the spinal cord. After a number of
transformations, the superior pole eventually
becomes the brain.
Neural Tube Defect (NTD) is one of the common
birth defects. During the third week of
development, specialized cells on the dorsal side
of fetus begin to fuse and form the neural tube.
When the neural tube unable to close completely
between the 20th and 28th day after conception,
the congenital malformation occurs. The growing
brain and spinal cord are then exposed depending
on the location of the anomaly.
There are two types of NTDs- open and closed.
Open NTD occurs when the brain and spinal cord
are exposed at birth through a defect in the skull
or spine. Closed NTD happens when the spinal
defect is covered by skin.
http://neuropathology-web.org/chapter11/chapter11bNTD.html
http://www.futuremedicineonline.com/detail_news.php?id=278
Exencephaly
Anencephaly Anencephaly
MyelomeningoceleCraniorachischisis
Encephalocele
Occipital encephalocele
Dorsal meningomyelocele
Myelomeningocele
Anencephaly Spina bifida
Hydrocephalus

11. Neural Tube Defects Symptoms
• Paralysis of the legs
• Partial or total lower
body weakness
• Learning disabilities
• Visual impairment
• Stunted growth
• Mental retardation
• Difficulty in movement
• Facial defects
• Increased muscle tone
• Respiratory issues
• Progressive enlargement
of the head
• Vomiting
• Nausea
• Coma
• Urinary and bowel
dysfunction
• Cardiac abnormalities

12. How to Detect
• Ultrasound examination : It is generally performed after 18 weeks of
pregnancy. Anencephaly could be detected earlier than 16 weeks.
• Maternal serum alpha-fetoprotein (MSAFP) test: Alpha-fetoprotein, a
plasma protein produced by fetus, may appear in the bloodstream of
a mother after crossing the placenta. High levels of AFP are
observed in case of open NTD.
• Amniotic fluid alfa-fetoprotein (AFAFP) test: Alpha-fetoprotein can
found in the amniotic fluid surrounding the fetus in the amniotic sac.
Elevated levels of the protein indicate malformation in the neural
tube.
• Amniotic fluid acetylcholinesterase (AFAChE) test:
Acetylcholinesterase (AChE) is an essential enzyme that maintains
proper transmission of impulses between nerve cells and muscles.
Prenatal diagnosis of NTD can be performed using amniocentesis or
amniotic fluid test. Low levels of AChE in the amniotic fluid may
indicate some form of fetal abnormality.

13. Treatment
• Around 90 % of babies born with spina bifida will also develop Hydrocephalus (fluid on the brain)
meaning further major surgery. A surgeon can implant a shunt - a small hollow tube to drain fluid to
relieve pressure on the brain. Treating hydrocephalus can prevent problems such as blindness.
• Major spinal surgery to close the gap in the spine usually takes place just 24hrs after birth.
• An infant with myelomeningocele, in which the spinal cord is exposed, can have surgery to close the
hole in the back before birth or within the first few days after birth.
• Encephaloceles are treated with surgery. During the surgery, the bulge of tissue is placed back into
the skull. Surgery also may help to correct abnormalities in the skull and face.
• Tethered spinal cord. Surgery can separate the spinal cord from surrounding tissue.
• Paralysis and limitation in mobility due to spina bifida. Use of braces, crutches, walkers and
wheelchairs
• Myelomeningocele children have nerve damage that prevents the bladder from completely emptying,
a condition that can cause urinary tract infections and kidney damage. Regularly insert a catheter
into the bladder can help it empty fully. Medications, injections, and surgery also can help correct
incontinence and preserve kidney and bladder function for the long time.
• No treatment for anenceplaly or iniencephaly. These conditions are usually fatal shortly after birth.

14. Neural Tube Defects Causes
Health experts are still unaware of the exact cause that disrupts complete closure of the neural tube,
resulting in severe physical deformities. It is occasionally caused by chromosomal abnormalities, single
gene defects and teratogens. Some assumptions about certain major contributory factors to this condition
have been made.
• Low intake of folic acid such as prenatal vitamins
• Ingestion of folate antimelabolities, such as methtrexate which impair the function of folic acid
• Gestational diabetes in the third trimester of pregnancy
• Obesity during pregnancy
• Presence of Mycotoxins in a wide variety of crops
• Arsenic poisoning from contaminated water
• Elevated body temperature, due to failed thermoregulation
• Excessive exposure to radiation
• Cigarette smoking or exposure to secondhand smoke during maternity

15. Neural Tube Defect Prevention
Folic acid (Vitamin B9) and cyanocobalamine (Vitamin B12) play
an important role in neurogenesis. Folate is important for
production and maintenance of new cells, for DNA synthesis
and for RNA synthesis. It also plays an essential role in the
nucleic acid synthesis and methylation. Vitamin B12 is vital
receptor in the folic acid biopathway. The early human embryo
is vulnerable to folate deficiency due to differences of the
functional enzymes involved in this pathway during
embryogenesis. The studies have shown that deficiency of
vitamin B12 contributes to Neural Tube Defect.
Proper intake of folic acid and Vitamin B12 in the first four weeks
of pregnancy (first trimester) for neurulation, may reduce the
occurrence of NTD. Women who become pregnant are advised
to eat foods fortified with folic acid and take supplements in
addition.
Pregnant women are advised to get 400 micrograms of folic
acid daily.

16. Foods Rich in Folic Acid
Folic acid, known as folate in its natural form, is one of the B-group vitamins. It has several
important functions. Folic acid cannot be stored in the body, so you need it in your diet every
day. Most people should be able to get the amount they need by eating a varied and
balanced diet. It works well with vitamin B12 to form healthy red blood cells. It helps to
reduce the risk of central nervous system defects such as spina bifida in unborn babies. A
lack of folic acid could lead to folate deficiency anaemia. Adults need 0.2mg of folic acid a
day. However, if you are pregnant or thinking of trying to have a baby, take a 0.4mg (400
microgram) of folic acid supplement daily from the time you stop using contraception until
the 12th week of pregnancy. Taking doses of folic acid higher than 1mg can disguise vitamin
B12 deficiency.
Good sources of folic acid
• broccoli
• brussels sprouts
• liver
• spinach
• asparagus
• peas, beans and lentils
• chickpeas
• brown rice
• papaya
• avocado
• leafy green vegetables
• seeds and nuts
• fortified breakfast cereals

17. Foods Rich in B12
Vitamin B12 is a necessary co-factor for the production of DNA, the genetic material that acts as the
backbone of all life. Vitamin B12 has several important functions and is involved in making red blood
cells and keeping the nervous system healthy, releasing energy from the food we eat and processing
folic acid. Low levels of vitamin B12 can impair production of serotonin, a neurotransmitter linked to
control mood. Serotonin is the target for medications that treat depression. When levels of vitamin B12
get very low, nerve damage can happen. The insulation sheath about nerve fibres begins to break
down, making it harder for signals to get to the periphery. A lack of vitamin B12 could lead to vitamin
B12 deficiency anaemia. Adults need approximately 0.0015mg a day of vitamin B12. If you eat meat,
fish or dairy foods, you should be able to get enough vitamin B12 from your diet. However, because
vitamin B12 is not found in foods such as fruit, vegetables and grains, vegans may not get enough of
this vitamin.
Good sources of vitamin B12
• Sardines
• salmon
• tuna
• cod
• lamb
• scallops
• shrimp
• beef
• yogurt
• milk
• cheese
• eggs
• turkey
• chicken

18. Educate the community,
health professionals and workers, policy
makers, the media,
and other stakeholdres
about
the birth defects
and
the opportunities
for
effective care and prevention
Protect Mothers: Healthy Nation = Healthy Mothers + Healthy Children
Email: info@oratechsolve.com