2. WHAT DO YOU MEAN BY CONGENITAL
MALFORMATIONS
•Congenital malformation: A physical defect present in a baby
at birth that can involve many different parts of the body,
including the brain, heart, lungs, liver, bones, and intestinp
heart defects, cleft lip and palate, spina bifida, limb defects,
and Down syndrome.
3. ANENCEPHALY
Anencephaly is the absence of
a major portion of the brain, skull,
and scalp that occurs
during embryonic
development.[1] It is a cephalic
disorder that results from
a neural tube defect that occurs
when the rostral (head) end of
the neural tube fails to close,
usually between the 23rd and
26th day following conception
4. SING AND SYMPTOMS
•The National Institute of Neurological Disorders and Stroke
(NINDS) describes the presentation of this condition as
follows: "A baby born with anencephaly is usually blind,
deaf, unaware of its surroundings and unable to feel pain.
Although some individuals with anencephaly may be born
with a main brain stem, the lack of a functioning cerebrum
permanently rules out the possibility of ever gaining
awareness of their surroundings. Reflex actions such as
5. CAUSES
•It is known that people taking
certain anticonvulsants and people with insulin-
dependent diabetes have a higher risk of having a
child with a neural tube defect.[13] The exact causes
of anencephaly are unknown. A lack of folic acid
(vitamin B9) before and during pregnancy may
increase the chance of neural tube defects, such as
anencephaly or spina bifida (a birth defect in which
the spine is exposed
6. DIAGNOSIS
• Anencephaly can often be diagnosed before birth through
an ultrasound examination. The maternal serum alpha-
fetoprotein (AFP screening)[15] and detailed fetal ultrasound[16] can be
useful for screening for neural tube defects such as spina bifida or
anencephaly.
7. PROGNOSIS
• There is no cure or standard treatment for anencephaly and the
prognosis for patients is death. Most anencephalic fetuses do not
survive birth, accounting for 55% of non-aborted cases. Infants that
are not stillborn will usually die within a few hours or days after birth
from cardiorespiratory arrest.[4][20]
8. ENCEPHALOCELE
• Encephalocele, is a neural tube defect characterized by sac-like
protrusions of the brain and the membranes that cover it through
openings in the skull. These defects are caused by failure of the
neural tube to close completely during fetal development.
9. SIGN SYMPTOMS
• Encephaloceles are often accompanied by craniofacial abnormalities or
other brain malformations. Symptoms may include neurologic
problems, hydrocephalus (cerebrospinal fluid accumulated in the
brain), spastic quadriplegia (paralysis of the limbs), microcephaly (an
abnormally small head), ataxia (uncoordinated muscle movement),
developmental delay, vision problems, mental and growth retardation,
and seizures.
• Note:
10. DIAGNOSIS
• Usually encephaloceles are noticeable deformities and are
diagnosed immediately after birth, but a small encephalocele in the
nasal or forehead region can go undetected. Various physical and
mental developmental delays can indicate the presence of
encephaloceles.
•
11. PREVENTION AND TREATMENT
It is recommended that women who may become pregnant take 400 micrograms of
folic acid daily
Currently, the only effective treatment for encephaloceles is reparative surgery,
generally performed during infancy. The extent to which it can be corrected
depends on the location and size of the encephaloceles; however, large protrusions
can be removed without causing major disability. Surgery repositions the bulging
area back into the skull, removes the protrusions, and corrects the deformities,
typically relieving pressure that can delay normal brain development.
Occasionally, shunts are placed to drain excess cerebrospinal fluid from the brain.
12. EPIDEMIOLOGY
• Encephaloceles occur rarely, at a rate of one per 5,000 live births
worldwide. Encephaloceles of the back of the head are more common
in Europe and North America, while encephaloceles on the front of the
head more frequently occur in Southeast Asia, Africa, Malaysia, and
Russia. Ethnic, genetic, and environmental factors, as well as parental
age, can all affect the likelihood of encephaloceles. The condition can
occur in families with a family history of spina bifida.[5]
13. SPINA BIFIDA
• Spina bifida is a birth defect in which there is incomplete
closing of the spine and membranes around the spinal
cord during early development in pregnancy.[1] There are
three main types: spina bifida
occulta, meningocele and myelomeningocele.[1] The most
common location is the lower back, but in rare cases it may
be the middle back or neck.
14. TYPES
There are two types: spina bifida occulta and spina
bifida cystica.[16] Spina bifida cystica can then be
broken down into meningocele and
myelomeningocele.[16]
15. • Spina bifida occulta
• Occulta is Latin for "hidden". This is the mildest form of spina bifida.In
occulta, the outer part of some of the vertebrae is not completely
closed.[18] The splits in the vertebrae are so small that the spinal cord
does not protrude. The skin at the site of the lesion may be normal, or it
may have some hair growing from it; there may be a dimple in the skin, or
a birthmark.
• Many people with this type of spina bifida do not even know they have it,
as the condition is asymptomatic in most cases.[19] About 15% of people
have spina bifida occulta,[8] and most people are diagnosed incidentally
from spinal X-rays.
16. • A posterior meningocele (/mɪˈnɪŋɡəˌsiːl/) or meningeal cyst
(/mɪˈnɪndʒiəl/) is the least common form of spina bifida. In this form, a
single developmental defect allows the meninges to herniate between
the vertebrae. As the nervous system remains undamaged,
individuals with meningocele are unlikely to suffer long-term health
problems, although cases of tethered cord have been reported.
Causes of meningocele include teratoma and other tumors of
the sacrococcyx and of the presacral space,
Meningocele
17. • Myelomeningocele (MMC), also known as meningomyelocele, is the
type of spina bifida that often results in the most severe complications
and affects the meninges and nerves.[27] In individuals with
myelomeningocele, the unfused portion of the spinal column allows
the spinal cord to protrude through an opening. Myelomeningocele
occurs in the third week of embryonic development, during neural
tube pore closure. MMC is a failure of this to occur completely.[3] The
meningeal membranes that cover the spinal cord also protrude
through the opening, forming a sac enclosing the spinal elements,
such as meninges, cerebrospinal fluid, and parts of the spinal cord
and nerve roots.[28] Myelomeningocele is also associated with Arnold
18. • Physical problem
• Physical signs of spina bifida may include:
• Leg weakness and paralysis[30]
• Orthopedic abnormalities (i.e., club foot, hip dislocation, scoliosis)[30]
• Bladder and bowel control problems, including incontinence, urinary tract infections,
and poor kidney function[30]
• Pressure sores and skin irritations[30]
• Abnormal eye movement
19. CAUSES
• Spina bifida is believed to be caused by a combination of genetic and
environmental factors.[3] After having one child with the condition, or if
a parent has the condition, there is a 4% chance the next child will
also be affected.[4] A folic acid deficiency during pregnancy also plays
a significant role.[3] Other risk factors include certain antiseizure
medications, obesity, and poorly managed diabetes
20. • Spina bifida occurs when local regions of the neural tube fail to fuse or there is
failure in formation of the vertebral neural arches. Neural arch formation occurs
in the first month of embryonic development (often before the mother knows
she is pregnant).
• Research has shown the lack of folic acid (folate) is a contributing factor in the
pathogenesis of neural tube defects, including spina bifida. Supplementation of
the mother's diet with folate can reduce the incidence of neural tube defects by
about 70%, and can also decrease the severity of these defects when they
occur.[54][55][56] It is unknown how or why folic acid has this effect.
21. PREVENTION
• There is neither a single cause of spina bifida nor any
known way to prevent it entirely. However, dietary
supplementation with folic acid has been shown to be
helpful in reducing the incidence of spina bifida. Sources of
folic acid include whole grains, fortified breakfast cereals,
dried beans, leaf vegetables and fruits.
22. SCREENING
• Open spina bifida can usually be detected during pregnancy
by fetal ultrasound. Increased levels of maternal serum
alpha-fetoprotein (MSAFP) should be followed up by two
tests – an ultrasound of the fetal spine and amniocentesis of
the mother's amniotic fluid (to test for alpha-
fetoprotein and acetylcholinesterase).
23. TREATMENT
• There is no known cure for nerve damage caused by spina
bifida. Standard treatment is surgery after delivery. This
surgery aims to prevent further damage of the nervous
tissue and to prevent
infection; pediatric neurosurgeons operate to close the
opening on the back. The spinal cord and its nerve roots are
put back inside the spine and covered with meninges. In
addition, a shunt may be surgically installed to provide a
continuous drain for the excess cerebrospinal fluid
produced in the brain, as happens with hydrocephalus.
Shunts most commonly drain into the abdomen or chest