SEO-Optimized Title for a Document on Congenital Anomalies

PRESENTED BY,
MS.AASHILY JOY VERANANICKAL
CONGENITAL ANOMALY

DEFINITION OF CONGENITAL
ANOMALIES
 congenital anomalies can be defined as structural or
functional anomalies, including metabolic disorders,
which are present at the time of birth .
 -WHO 2012

TERMINOLOGY
 Congenital:- Means exist since birth, whether clinical
evidences are obvious or not obvious
 Anomaly:- Means a deviation from the normal.
 Congenital malformation:- It is a primary structural
defect arising from localised error in morphogenesis,
resulting in the abnormal formation of a tissue or organ.

DEFINITION
 Disruption: It is a structural defect resulting from
the destruction of a structure that had formed
normally be for the insult such as-ischemia,
infection & trauma.
 Dysplasia:-It is a disorder at the organ level that is
due to problems with tissue development. Most
dysplasia are cause by single gene defects & are
associated with high recurrence risk for sibling & or
offspring.
 Deformation:-Abnormalities caused by alterations
of the normal fetal environment, which impair fetal
growth/development.

CAUSES OF CONGENITAL
ANOMALIES
 Fetal alcohol exposure:-
The mother's consumption of alcohol during pregnancy can
cause a continuum of various permanent birth defects :
cranofacial abnormalities, brain damage, intellectual
disability, heart disease, kidney abnormality, skeletal
anomalies

 Toxic Substances:
 Substances whose toxicity can cause congenital
disorders are called "teratogens", and include
certain pharmaceutical and recreational drugs in
pregnancy as well as many environmental toxins in
pregnancy . All birth defects are caused by prenatal
exposure to a teratogenic agent
Eg.Medication or drug exposures, maternal infections
and diseases, and environmental and occupational
exposures, Paternal smoking

 Medications and supplements
 Teratogenic drug: is the Thalidomide The most
typical disorder induced by thalidomide were
reductional deformities of the long bones of the
extremities,brain,eye ,ears,brain ,kidney.
 Tetracycline, an Antibiotic; never prescribed to
women in the reproductive age or children, because
of its negative impact on bone mineralisation and
teeth mineralisation.
 Anticonvulsants: cleft lip and/or palate,
microcephalia, nails and fingers hypoplasia.

 Environmental toxical substances:
 Drinking water is often a vessel through which harmful toxins
travel, heavy metals, elements, nitrates, fluoride can be
carried through water and cause congenital disorders.
Industrial pollution can also lead to congenital defects. Infants
exposed to mercury poisoning in utero showed
predispositions to cerabral plasy, ataxia
 Paternal smoking congenital abnormalities in offspring.

INFECTIONS
 Bacteria, viruses, Rubella is known to cause
abnormalities of the eye, internal ear, heart, and
sometimes the teeth, cataracts and micropthelmia

LACK OF NUTRIENTS
 Lack of folic acid, a vitamin B, in the diet of a
mother can cause cellular neural tube deformities
that result in spina bifida.

 Physical restraint:
External physical shocks or constrainment due to
growth in a restricted space.
Genetic causes:
Genetic diseases may be divided into single-gene
defects, multiple-gene disorders, or chromosomal
defects. Single-gene defects may arise from
abnormalities of both copies of an autosomal gene
(a recessive disorder) or of only one of the two
copies (a dominant disorder).

 Socioeconomic status:
A low socioeconomic status associated with the
development of the fetus in utero and growth retardation,
born prematurely, at low birth weight, or with asphyxia
.

ROLE OF RADIATION
 Atomic bombing of Hiroshima and Nagasaki, increase
of birth defects/congenital malformations.
 Father's age:
increase in the incidence of ventricular septal defects,
atrial septal defects, and patent ductus arteriosus in
offspring has been found to be correlated with advanced
paternal age.
Unknown or multifactorial

CLASSIFICATION OF THE CONGENITAL
ABNORMALITIES
 Primary abnormality
Defect genetic anomaly (spina bifida, cleft lip,
congenital heart defect).
 Secondary Abnormality("disruption"):
Interruption of the normal development of an organ
that can be traced back to outer influences. Either
teratogenic agents (infection, chemical substance,
ionizing radiation) or a trauma (amniotic bands,
which led to an amputation) are involved.

 Deformation: Anomalies that occur due to outer mechanical
effects on existing normal organs or structures.
 Dysplasia:
Abnormal organization of the cells in a tissue (e.g.,
osteogenesis imperfecta). Numerous dysplasias are
genetically caused (e.g., achondroplasia).
 Agenesia:
The absence of an organ due to a development that failed to
happen during the embryonic period.

Sequence:
When one, single factor results in numerous secondary
effects, leading to several anomalies, one speaks of a
sequence .
The fetus is crushed, the face is contused, the hips are
shifted, and the lungs are smaller than normal
(hypoplasia).

 Syndrome:
A syndrome comprises a group of anomalies that can be
traced to a common origin (Down syndrome occurs due
to a trisomia of the 21st chromosome and leads to a
number of characteristic anomalies).

CONGENITAL HEART DEFECTS
 Congenital heart defects are one of the most
common congenital anomalies that may involve
chambers, valves and great vessels arising from
the heart.

INCIDENCE AND ETIOLOGY
 Congenital heart defects affect 8-12 of every 1000
neonates.
 In general, right sided lesions are more common in
females and left sided lesions are more common in
males.
 The exact etiology of heart defects is unknown 90%
cases.

FACTORS ASSOCIATED WITH
CONGENITAL DEFECTS
 Fetal or maternal infections like rubella during first
trimester.
 Chromosomal abnormalities like Trisomy 13, 18
and 21.
 Maternal Insulin Dependent Diabetes.
 Teratogenic effects of drugs and alcohol.

SYNDROMES THAT INCLUDE CONGENITAL
HEART DEFECTS
 Marfan’s syndrome:- Mitral valve prolapse and
dilated aortic root.
 Turner’s syndrome:- Aortic valve stenosis and
coarctation of aorta.
 Noonan’s syndrome:- Dysplastic pulmonary valve.
 Willam’s syndrome:- Supravalvular pulmonary
stenosis
 Di George syndrome:- Interrupted aortic arch.
 Down’s syndrome:- Atrioventricular defect and
ventricular septal

CLASSIFICATION OF DEFECTS
Types of defects
Acynaotic Cynaotic
Obstruction to blood flow Tertology of fallot. Transportation
Pulmonary blood flow Tricusipid of great arteries.
from ventricles Coartation of aorta Total anomalous
Aortic stenosis pulmonary
Pulmonic stenosis venous return.
Hypoplastic.
Atrial septal defect
Ventricular septal defect
Patent duct arteriosus
Atrioventricular

ACYANOTIC HEART DISEASES
 DEFECT WITH INCREASED PULMONARY
BLOOD FLOW
In this group of cardiac defects, intra cardiac
communications along the septum or an abnormal
connection between the great arteries allows blood
to flow from the higher pressure left side of the
heart side to the lower pressure right side of the
heart.

ATRIAL SEPTAL DEFECT
 Abnormal opening between the atria, allowing blood
from the higher pressure left atrium to flow into the
lower pressure right atrium.

TYPES ATRIAL SEPTAL DEFECT
 Ostium primum (ASD 1):- Opening at lower end of septum;
may be associated with mitrial valve septum.
 Ostium secundum (ASD 2):- Opening near the centre of
septum.
 Sinus venosus defect:- Opening near junction of superior
venacava and right atrium; may be associated with partial
anomalous pulmonary venous connection.

PATHOPHYSIOLOGY
 In an atrial septal defect, there is communication between
the right and left atrium.
Oxygenated blood in left atrium is forced through the defect
into right atrium.
This left to right shunting of blood places a burden on the
right side of heart leading to an increased pulmonary blood
flow.
Pulmonary congestion and ventricular
enlargement.

CLINICAL MANIFESTATIONS
 Patients may be asymptomatic.
 Murmurs
 Patients are at risk for atrial dysryhthmias and
pulmonary vascular obstructive disease and emboli
formation

DIAGNOSTIC EVALUATION
 Cardiac examination:- Increased flow of blood
across the defect produces a systolic produces a
systolic ejection murmur
 Electrocardiogram shows right ventricular volume
overload.
 Chest radiograph shows enlargement of the heart
and increased pulmonary vascular markings.
 Echocardiogram can define the location and size of
atrial septal defect as well as dilatation of the atria.

THERAPEUTIC MANAGEMENT
 Small atrial septal defect may occasionally close
 Surgical correction for hemodynamically significant ASD is
recommended between 2-4 years of age.
 The surgical repair is done through median sternotomy and
requires cardiopulmonary bypass.
 If the defect is small, purse string closure is done by stitching
around the opening and pulling it closed.
 If the defect is large a kintted Dacron patch is over the defect.

POST OPERATIVE COMPLICATIONS
 Cardiac enlargement
 Dysrhythmias
 Infective endocarditis

VENTRICULAR SEPTAL DEFECT (VSD)
 It is an abnormal communication between the right
and left ventricle.

TYPES OF VSD
.
 Membranous VSDs : They lie beneath the aortic
valve and are most common.
 Subpulmonic VSDs : They lie benath the
pulmonary valve and account for about 5- 7% of
the VSDs.
 Atrioventicular Canal Type VDSs or Posterior
Defects : They account for approximately 8%.
 Muscular VSDs : They are frequently multiple and
represent 5-20% of VSDs.

PATHOPHYSIOLOGY
 In presence of a VSD, a portion of oxygenated
blood returning from lungs into the left atrium and
left ventricle crosses the VSD and enters the right
ventricle
It returns to the pulmonary circulation.
The shunt is left to right. The magnitude of shunt is
determined by the size of VSD, amount of
pulmonary vascular resistance (PVR) present.

 High pulmonary vascular resistance will elevate
right ventricular pressure (making it appropriate to
left ventricular pressure) and decrease shunting
across ventricular septal defect.
 In the newborn period, pulmonary vascular
resistance is still high therefore little shunting may
occur at this time and the child may be
asymptomatic.
 Due to increased blood in right ventricle, right
ventricular hypertrophy occurs.

CLINICAL FEATURES
 Asymptomatic
 congestive heart failure.
 Dyspnea
 tachypnea
 slow physical development
 feeding difficulties
 frequent pulmonary infections.

 Cardiac examination:- Blood flows across the
VSD and produces a systolic murmur that can be
heard best at mid to lower left sternal border. In
presence of large left to right shunt, the increased
regurgitation of blood across mitral valve produces
a diastolic low rumble.
 Electrocardiogram
 Chest radiograph:- With moderate to large size
VSDs, the heart size and pulmonary vascular
markings are increased.
 Echocardiogram:- Colour 2D echo determining the
size and location of VSD

 75-80% of small VSD and 5-10% of large vsds will
spontaneously close.
 Antibiotics to prevent endocarditis in the case of
small defects.
 The infant continues to show signs of CHF
 In older children cardiopulmonary bypass is used.
Moderate to small sized VSDs are closed by purse
string sutures, while for large defects a synthetic
Dacron patch is used to close the defect.

POST-OPERATIVE COMPLICATIONS
 Residual VSDs
 Conduction abnormalities.

PATENT DUCTUS ARTERIOSUS (PDA
 The Ductus Arteriosis is a normal pathway in the fetal
circulatory system, Functional closure of ductus
arteriosus usually occurs spontaneously during 10-15
hrs after birth. Permanent closure occurs in 5-7 in most
infants but may take up to several weeks. If closure of
ductus arteriosis does not occur even by 2-3 weeks of
age it is known as Patent Ductus Arteriosus.

PATHOPHYSIOLOGY
 Failure of closure of ductus arteriosus
 Shunting of blood from high pressure aorta to low pressure
pulmonary artery (left to right shunt).
 Increased blood flow to pulmonary tree and increased blood
return to left side of heart
 Volume loaded left ventricles.

CLINICAL FEATURES
 pulmonary vascular resistance falls more rapidly
 term infants symptoms depend on the size of
ductus.
 growth retardation and easy fatigability.

 Cardiac examination:- Systolic murmur or continuous
murmur may be present, which is best heard in second
to third left intercostals apace. With large PDA, a
diastolic rumble and gallop may be heard. Pulse is
usually bounding in children.
 Electrocardiogram:- The ECG is usually normal;
however, it may show left ventricular hypertrophy and
left atrial dilataion in older children.
 Chest radiograph:- The chest radiograph shows
increased pulmonary vascularity with normal or
increased heart rate.
 Echocardiogram:- With a Doppler, the amount of blood
flow across the PDA can be estimated.

 Medical management of PDA includes
administration of indomethacin, a prostaglandin
inhibitor.
 Surgical closure can be done at any age, but is
done preferably at 6 months of age. Through a
lateral thoracotomy, the ductus is either ligated with
sutures or ligated and divided completely. This is a
closed heart surgery.

DISORDERS WITH DECREASED
PULMONARY BLOOD FLOW
 COARCTATION OF AORTA
Coarctation of aorta is a discrete narrowing of aortic
arch, usually in juxtaductal position (in the region of
ductus arteriosus and left subclavian artery).

TYPES
 Infantile or preductal type: There is constriction of
aorta between left subclavian artery and ductus
arteriosus.
 Post ductal type: There is constriction at or distal
to ductus arteriosus.

 In coarctation, there is narrowing which can be
either discrete or involve a long segment and can
vary in severity from a mild constriction to total
occlusion.
 This impedes blood flow to the lower portion of the
body, creating increased pressure proximal to the
obstruction.
 Increased pressure in upper part of the body and
lower pressure in lower part of the body.

CLINICAL FEATURES
 There are two groups of patient with coarctation:
Those who are symptomatic in infancy.
Those who are remain asymptomatic

SYMPTOMATIC CHILDREN PRESENT WITH
FOLLOWING FEATURES
 blood pressure is relatively low, resulting in absent
or diminished femoral and pedal pulse.
 Increased blood pressure in the upper part of the
body, resulting in headache, dizziness, fainting
nose bleed (epistaxis) and later cerebrovascular
accident.
 weakness or pain in their legs on exercise. Their
legs may be cooler than arms.
 respiratory distress, poor weight gain, feeding
problems, irritability and tachycardia.

 Cardiac examination: No murmurs present or a
systolic murmur may be heard along the left mid to
upper sternal border that radiates to the back.
 Electrocardiogram: Left or right ventricular
hypertrophy is seen on ECG in the infant with
coarctation.
 Echocardiogram: The presence of a coarctation
and degree of narrowing as well as presence of
other cardiac defects may be determined by the
electrocardiogram.
 MRI and cardiac catheterization are useful in clearly
defining the area and extent of narrowing.

 End-to-end anastomosis .
 Subclavian Flap Aortaplasty .
 Patch Aortoplasty .
 Balloon Aortoplasty .
 Medical management for congestive heart failure
and hypertension .
 antibiotic prophylaxis .
 cardiology follow up, at least every 1-2 years is
recommended.

AORTIC STENOSIS
 Narrowing of the aortic valve, which controls blood
flow between left ventricular and aorta, is known as
aortic stenosis.

AORTIC STENOSIS IS OF THREE TYPES :
 Valvular : Valvular aortic stenosis is the stricture of
aortic valve. It is the commonest type of aortic stenosis.
 Subvalvular stenosis : It is narrowing below the valve
resulting from a thin membrane or thick fibrous ring in
the subvalvular region of the aortic valve.
 Supra valvular aortic stenosis : There is stenosis
above the aortic valve. This type is fairly uncommon.

PATHOPHYSIOLOGY
 presence of aortic stenosis
 obstruction to the outflow of blood from the left
ventricle.
 thickening or hypertrophy of the left ventricle.
 response to increased workload required to eject
blood.
 The degree of obstruction varies from mild to
severe.

CLINICAL FEATURES
 Fatigue and exercise intolerance
 Exertional dyspnea
 Chest pain
 Syncope
 Infants with severe aortic stenosis may present with
cardiac failure in neonatal period

 Cardiac Examination : There is a harsh systolic murmur
heard typically at the upper right sternal border and
neck.
 Electrocardiogram : The ECG may be normal or
demonstrate left ventricular hypertrophy. ST segment
depression, which indicates myocardial ischemia.
 Chest Radiograph : The heart size is often normal.
 Echocardiogram : With 2D echocardiogram, the type of
aortic stenosis as well as presence of other cardiac
defects can be visualized. Left ventricular wall thickness
and left ventricular function can also be evaluated.

 For infants with severe valvular aortic stenosis,
surgery or balloon dilatation is done.
 Valvular aortic stenosis is required through a
median sternotomy.
 Aortic Ballon Valvuloplasty
 subvalvular aortic stenosis, surgery is done to
remove the obstructing membrane or fibrous ring
below the aortic valve. The ‘Kono procedure’
(removing obstructing muscles)
 Supra valvular aortic stenosis is repaired by incising
the narrowed segment of aorta and widening the
area with a patch graft

PULMONARY STENOSIS
 Narrowing of the pulmonary valve which controls
the outflow of blood from right ventricle to the
pulmonary artery is known as pulmonary stenosis.
It is an obstructive lesion that interfere with blood
outflow from the right ventricle.

TYPES PULMONARY STENOSIS
 Subvalvular : Stenosis occurs below the pulmonary
valve in the infundibular area.
 Valvular : Stenosis occurs at the pulmonary valve level.
 Supravalvular : Stenosis is present above the
pulmonary valve.

CLINICAL FEATURES
 2 to 3 years of life they may develop dyspnea on
exertion and easy fatigability.
 Poor exercise tolerance.
 Exertional dyspnea due to poor or insufficient blood
flow to lungs.
 Syncope and sudden death

 Cardiac Examination : On auscultation a systolic
ejection murmur is heard best at left upper sternal
border.
 Electrocardiogram : With mild to moderate pulmonary
stenosis, the ECG may be normal or show right
ventricular hypertrophy. In severe pulmonary stenosis
the ECG shows right ventricular hypertrophy and right
atrial enlargement.
 Chest radiograph : Chest X-ray shows right ventricular
hypertrophy and post stenotic dilatation of pulmonary
artery.
 Electrocardiogram : Colour flow 2D Echo can
demonstrate the size of right ventricle and its outflow
tract. The level can be visualized.

 Pulmonary Balloon Valvuloplasty or surgical repair
 pericardial or Dacron patches used to widen the
outflow tract.

CYANOTIC HEART DISEASES
 Cyanotic becomes clinically evident when there is
at least 5gm of unoxygenated hemoglobin per
100ml of blood.

CYANOTIC DISORDER WITH DECREASED
PULMONARY BLOOD FLOW
 TETROLOGY OF FALLOT
Tetrology of fallot is the most common congenital
heart defect with decreased pulmonary blood flow.
It includes a combination of 4 defects :-
 Ventricular septal defect
 Overriding of aorta
 Pulmonary stenosis
 Right ventricular hypertrophy

CLINICAL FEATURES
 Cyanosis
 In severely affected infants, skin becomes dusky or
bluish in colour.
 Clubbing of fingers and toe nails occur by 1-2 years
of age.
 Exercise cause dyspnea.
 Paroxysmal dyspneic attacks (anoxic blue spells
known as ‘Tett spells’)

 Cardiac Examination : A harsh systolic murmur is
heard along left sternal border.
 Electrocardiogram : Right ventricular hypertrophy is
almost always present on ECG.
 Chest radiograph : The characteristic ‘boot shaped’
heart is seen due to right ventricular hypertrophy
 Cardiac Catheterization : Cardiac catheterization
shows systolic hypertension in right ventricle with
rapid fall in pressure as the catheter goes into
pulmonary artery

 Medical Management
Propanolol is usually administered in dose of 1
mg/kg body weight, upto 4 times in a day, to reduce
the pulmonary artery and valve spasm.
 Intravenous prostaglandin E1 therapy is given to
neonates with TOF.

SURGICAL MANAGEMENT
 Blalock-Taussig Shunt : In older infants and children, an artificial ductus
is created by connecting right or left subclavian artery to the pulmonary
artery at the same side. This allows increased blood flow to the lungs.
 Pott’s Procedure : The upper descending aorta is anastomosed with left
pulmonary artery.
 Waterston Shunt : It involves side to side anastomosis of ascending
aorta with right pulmonary artery.
 Brock’s procedure : In this surgery, pulmonary valvotomy is done to
correct pulmonary stenosis. The surgery increases pulmonary blood flow
but does not correct VSD.


POSTOPERATIVE COMPLICATIONS
 The complications of total repair include :
 Conduction abnormalities (heart block)
 Residual ventricular septal defect
 Residual pulmonary stenosis
 Pulmonary valve regurgitation

TRICUSPID ATRESIA
 In tricuspid atresia, the tricuspid valve fails to
develop and no communication exists between the
right atrium and right ventricle.

CLINICAL FEATURES
 Profound cyanosis
 Hypoxic spells
 Tachypnea
 Delayed growth
 Acidosis
 Clubbing of nails

DIAGNOSTIC EVALAUTION
 Cardiac Examination : It reveals murmurs of
associated heart defects such as VSD and PDA.
 Electocardiogram : ECG reveals right and left atrial
enlargement, decreased or absent right ventricular
pressures and left ventricular hypertrophy.
 Chest radiograph : The heart size can be normal or
increased. The pulmonary vascularity is usually
decreased.
 Echocardiogram : The absence of a tricuspid
valve, size of right ventricle and the presence of
other cardiac defects such as VSD can be identified
with 2D echocardiography.

MEDICAL MANAGEMENT
 Infants who are dependent on PDA for pulmonary
blood flow are given a continuous infusion of PGE1
to maintain patency of ductus arteriosus until a
systemic to pulmonary shunt surgery is performed.

SURGICAL MANAGEMENT
 Palliative Surgery
 Blalock-Taussig Shunt: : In this procedure the right
or left subclavian artery is connected to the
pulmonary artey of same side. This allows for
increased blood flow to the lungs.
 Balloon Atrial Septotomy

 Corrective Surgery
 The total repair of Tricuspid Atresia involves
creation of communication between right atrium and
pulmonary artery or the right ventricle by direct
anastomosis or a conduit. Also any ASD or VSD, if
present or any previous systemic-to-pulmonary
shunts like Blalock Taussig Shunts are closed. This
repair is known as ‘Fontan Procedure’

 The complications of surgical repair involves :-
 Congestive heart failure
 Renal failure
 Residual VSD
 Conduit obstruction
 Dysrhythmias
 Infective endocarditis

CYANOTIC DISORDER WITH MIXED
CIRCULATION
 COMPLETE D-TRANSPOSITION OF GREAT
ARTERIES (TGA)
TGA is a cyanotic defect in which the aorta arises
from the right ventricle and pulmonary artery arises
from the left ventricle resulting in two separate and
parallel circulations.

CLINICAL FEATURE
 TGA is diagnosed in infancy. The clinical features
include :
 Cyanosis is always present.
 Hypoxic spells especially during crying or exertion.
 Clubbing secondary to cyanosis may be seen in
older children.

 Cardiac Examination : Murmurs, if present are usually
those of associated cardiac defects such as a PDA or
a VSD. The second heart sound is single and increased
in intensify because of the aorta arising from the right
ventricle.
 Electrocardiogram : The ECG may be normal for a
neonate or demonstrate right ventricular hypertrophy.
 Chest radiograph : Heart size may be normal or
moderately enlarged.
 Echocardiogram : The colour flow 2D echocardiogram
is extremely useful in establishing the diagnosis and
evaluating the presence of associated cardiac defects

MEDICAL MANAGEMENT
 Prostaglandin infusion is given intravenously to
keep the ductus arteriosus open
 Oxygen therapy, in profoundly cyanotic neonates
may be harmful , as it enhances closure of PDA
which may be the only source of mixing of blood in
TGA.

Palliative surgery
 Rashkind Procedure : Enlargement of interatrial
communication by Atrial Balloon Septostomy is
done during cardiac catheterization. It helps in
establishing adequate mixing of oxygenated and
unoxygenated blood for these infants. In this
procedure, a balloon catheter is passed through the
foramen ovale, it is inflated and then pulled back to
tear and stretch open foramen ovale thereby
creating an enlarged opening between the two
atria.
 Blalock Hanlon Procedure :

CORRECTIVE SURGERY
 Arterial Switch Procedure
 Senning Procedure .
 Mustard Procedure :
 Senning Procedure :

CONGESTIVE HEART FAILURE (CHF)
 congestive heart failure is the failure is the result of
surgically correctable structural abnormalities of the
heart. It may also occur due to arrhythmias,
anemia, myocardial disease, sepsis or hypertension

CLINICAL FEATURES
 Cardiac enlargement
 Tachycardia
 Tachypnea
 Tachypnea
 Gallop Rhythm
 Decreased urine output and edema
 Decreased peripheral pulse and mottling of the
extremities
 Sweating
 Failure to thrive and feeding difficulties

 History and physical examination
 Chest roentgenogram
 ECG
 Arterial Blood Gas Analysis (ABS)
 Serum electrolytes
 ECG and echocardiography

 Improvement of myocardial function through the
use of digitalis and diuretics.
 Supply and conversation of energy through
nutritional support and rest.

NEURAL TUBE DEFECTS:
 The brain and spinal cord are derived from
ectodermal elements that differentiate and
proliferate to form the neural tube. Closure to the
neural tube begins on approximately the 22nd day of
gestation and is complete between the 26th and 28th
day.

DISORDERS RELATED TO ABNORMAL CLOSURE
OF THE NEURAL TUBE DEFECTS
 Anencephaly
 Cranial meningeoceles
 Encepaloceles
 Various forms of spina bifida

 ANENCEPHALY
Anencephaly is the absence of a major portion of the
brain, skull, and scalp that occurs during embryonice
development.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

 Infants are born without a fore-brain (the thinking
and coordinating area) and are usually blind, deaf,
unconscious and are unable to feel pain.

CAUSE OF ANENCEPHALY
 Folic acid deficiency
 People taking certain anticonvulsants.
 People with insulin-dependent diabetes.
 High exposure to such toxins as lead, chromium, mercury, and
nickel.
 Hypervitaminosis A

SYMPTOMS OF ANENCEPHALY
 Blind.
 deaf, unaware of its surroundings and unable to
feel pain.
 Absence of bony covering over the back of the
head.
 Missing bones around the front and sides of the
head.
 Congenital heart defects
 Some basic reflexes, but without the cerebrum,
there can be no consciousness.

DIAGNOSIS OF ANENCEPHALY
 Alpha-fetoprotein - Abnormal levels of alpha-
fetoprotein may indicate brain or spinal cord
defects.
 Ultrasound (Also called sonography.) - a diagnostic
imaging technique that uses high-frequency sound
waves and a computer to create images of blood
vessels, tissues, and organs.
 Amniocentesis - a test performed to determine
chromosomal and genetic disorders and certain
birth defects.

 Management:-
The Midwife should wrap the baby carefully before
showing the baby to the mother.
It is recognized that seeing and holding the baby will
facilitate the grieving process.

TYPE OF ANENCEPHALY
 Meroanencephaly
 Meronanencephaly is a rare form of anencephaly
characterized by malformed cranial bones, a median cranial
defect, and a cranial protrusion called area cerebrovasculosa.
Area cerebrovasculosa is a section of abnormal, spongy,
vascular tissue admixed with glial tissue ranging from simply a
membrane to a large mass of connective tissue, hemorrhagic
vascular channels, glial nodules, and disorganized choroid
plexuses

TREATMENT
There is no cure for anencephaly.

PROGNOSIS:
 The prognosis for babies born with anencephaly is
extremely poor. If the infant is not stillborn, then he or
she will usually die within a few hours or days after
birth.

PREVENTION:
 Taking 4 to 5 milligrams of folic acid daily for 2 to 3
months before conception for all woman at risk of
having a child with a neural tube defect

 Holo anencephaly
The most common type of anencephaly, in which the
brain is completely absent.
Craniorachischisis
The most severe type of anencephaly where area
cerebrovasculosa and area medullovasculosa fill
both cranial defects and the spinal column.
Craniorachischisis is characterized by anencephaly
accompanied by bony defects in the spine and the
exposure of neural tissue as the vault of the skull
fails to form.

SYMPTOMS OF CRANIORACHISCHISIS:
 Absent portion of skull
 Exposed brain
 Spine defect
 Imperforate anus
 Diaphragmic hernia

CRANIORACHISCHISIS CAUSES
 The cause of Craniorachischisis is due to failure of the neural
tube to close during the early stages of fetal development.
 combination of genetic.
 environmental factors.
 chromosomal abnormalities. It is thought that exposure to
valporic

CRANIORACHISCHISIS DIAGNOSIS & TESTS
 Ultrasound
 Alpha-fetoprotein screening. Both of these are
routinely done in prenatal care.
 Acid, arsenic, mycotoxins, folate ant metabolites, or
other toxins during the six weeks after a
previous menstrual cycle may cause problems with
the metabolism of folate and increase the risk of
developmental problems occurring.
 There is no cure or treatment for
Craniorachischisis.

INIENCEPHALY
 Iniencephaly is failure of normal neural tube closure between
the 3rd and 4th week of embryologic development.
 3 common characteristic defect to the occipital bone , spinal
bifida of the cervical vertebrae and retro flexion (backward
bending) of the head on the cervical spine .
 includes anencephaly and spina bifida.

SIGNS AND SYMPTOMS OF INIENCEPHALY:
 The fetal head of Infants born with Iniencephaly are
hyper extended
 foramen magnum is enlarged and opens through
the widened pedicles.
 The defective neural arches directly into the upper
cervical reach of the spinal canal
 formation of a common cavity between most of the
spinal cord and the brain.
 skin of the anterior chest is connected directly to
the face.
 the scalp is directly connected to the skin of the
back.

EPIDEMIOLOGY :
 2nd most common fetal malformation
 1~2/1000
 Geographic variation
 Multifactorial in origin
 Nutritional deficiency
 Anticonvulsant agents
 Zinc deficiency, hyperthermia, aminopterin, clomiphene
citrate, IDDM
 Genetic factor

ENCEPALOCELES
 Encepaloceles is one of a group of birth defects known
as neural tube defects (NTD). Encephalocele,
sometimes known by the Latin name cranium bifidum
 neural tube defect characterized by sac-like protrusions
of the brain and the membranes that cover it through
openings in the skull.

CAUSES AND RISK FACTORS
 Maternal lack of folic acid and vitamins
 Previous baby with NTD
 Family history of NTD
 Diabetes Maternal obesity
 During pregnancy
 Maternal stress
 Woman who has epileptic seizures

SIGNS AND SYMPTOMS:
 Encephaloceles are often accompanied by craniofacial
abnormalities or other brain malformations.
 Neurologic problems
 Hydrocephalus (cerebrospinal fluid accumulated in the
brain), spastic quadriplegia (paralysis of the limbs)
 Microcephaly
 Ataxia
 Developmental delay
 Vision problems,
 Mental and growth retardation.
 Seizures.

PREVENTION:
 Folic acid is a B vitamin that plays an important
role in the development of the fatal brain and spinal
cord during very early pregnancy.

MEDICAL CARE :
 Treatment may include immediate surgery to
remove the sac and replace the brain tissue into the
skull. A computerized tomogram (CT) scan or other
studies may be done to determine the extent of the
lesion.

SPINA BIFDA
 Spina bifida (Latin: "split spine") is a birth defect
where there is incomplete closing of the backbone
and membranes around the spinal cord.
 Some vertebrae overlying the spinal cord are not
fully formed and remain unfused and open.
 If the opening is large enough, this allows a portion
of the spinal cord to protrude through the opening in
the bones.
 There may or may not be a fluid-filled sac
surrounding the spinal cord.

CAUSE OF SPINA BIFDA:
 Maternal diabetes
 Family history
 Obesity
 Increased body temperature from fever
 external sources such as hot tubs and electric blankets
may increase the chances of delivery of a baby with a
spina bifida.
 Medications such as some anticonvulsants.
 Pregnant women taking Valproic acid have an increased
risk of having children with spina bifida
 Genetic basis.
 Folic acid deficiency

EMBRYOLOGY:
 Spina bifida is caused by the failure of the neural
tube to close during the first month
of embryonic development
 Under normal circumstances, the closure of the
neural tube occurs around the 23rd (rostral closure)
and 27th (caudal closure) day after fertilization.

TYPES:
 Spina bifida malformations fall into three categories:
 spina bifida occulta
 spina bifida cystica with meningocele
 spina bifida cystica with myelomeningocele.
(The most common location of the malformations is
the lumbar and sacral areas)

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.
 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.
 The incidence of spina bifida occulta is
approximately 10% of the population, and most
people are diagnosed incidentally from spinal X-
rays

MENINGOCELE:
 The least common form of spina bifida is a posterior
meningocele (or meningeal cyst). In this form, the
vertebrae develop normally, but the meninges are
forced into the gaps between the vertebrae.

MYELOMENINGOCELE:
 This type of spina bifida often results in the most severe
complications.
 In individuals with myelomeningocele, the unfused
portion of the spinal column allows the spinal cord to
protrude through an opening.
 The meningeal membranes that cover the spinal cord
form a sac enclosing the spinal elements.
 Spina bifida with myeloschisis is the most severe form of
myelomeningocele. In this type, the involved area is
represented by a flattened, plate-like mass of nervous
tissue with no overlying membrane.
 The exposure of these nerves and tissues make the
baby more prone to life-threatening infections such
as meningitis.

CONTD…
 The protruded portion of the spinal cord and the
nerves that originate at that level of the cord are
damaged or not properly developed.
 As a result, there is usually some degree
of paralysis and loss of sensation below the level of
the spinal cord defect.

CLINICAL MANIFESTATIONS:
Physical Signs:
 Orthopedic abnormalities (i.e., club foot, hip
dislocation)
 Bladder and bowel control problems, including
incontinence, urinary tract infections, and poor renal
function.
 Pressure sores and skin irritations
 Abnormal eye movement
 68% of children with spina bifida have
an allergy to latex
 Paralysis

CONTD…
 Scoliosis
 Back pain
 Partial or complete lack of sensation
 Weakness of the hips, legs, or feet of a newborn
 Other symptoms may include:
 Hair at the back part of the pelvis called the sacral area
 Dimpling of the sacral area
 Difficulty swallowing, which can lead to choking.
 Hoarseness.
 Breath-holding and problems breathing during sleep.
 Below-average intelligence.

NEUROLOGICAL COMPLICATIONS:
 Many individuals with spina bifida have an
associated abnormality of the cerebellum, called
the Arnold Chiari II malformation. In affected
individuals, the back portion of the brain is
displaced from the back of the skull down into the
upper neck.

EXECUTIVE FUNCTION:
 Specific areas of difficulty in some individuals
include planning, organizing, initiating, and working
memory. Problem-solving, abstraction, and visual
planning may also be impaired.

ACADEMIC SKILLS:
 Individuals with spina bifida may struggle
academically, especially in the subjects
of mathematics and reading.

SOCIAL COMPLICATIONS:
 Compared to typically developing children, youths
with spina bifida may have fewer friends and spend
less time with peers.

DIAGNOSTIC EVALUATION:
Pregnancy screening:
 Neural tube defects can usually be detected during
pregnancy by testing the mother's blood (AFP
screening) or a detailed 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).

TREATMENT:
 There is no known cure for nerve damage caused
by spina bifida.
 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 wall.

CONTD…
 Monitor growth and development of bones,
muscles, and joints.
 Treat and evaluate nervous system issues, such as
seizure disorders.
 Physical therapy
 Speech therapy

PREVENTION:
 Dietary supplementation with folic acid has been
shown to be helpful in reducing the incidence of
spina bifida.
 It is recommended that any woman considering
becoming pregnant take 0.4 mg of folic acid a day.
Pregnant women need 1 mg per day.

IMMEDIATE CARE:
 Place the child in prone position.
 Cover the affected area with sterile gauze piece
dipped in normal saline.
 Maintain hydration.
 Monitor for associated defects.

LIFE LONG TREATMENT:
 Catheters
 High fiber diet
 Antibiotics may be used to treat or prevent
infections such as meningitis or urinary tract
infections.

COMPLICATIONS:
 Difficult delivery with problems resulting from a traumatic birth,
including cerebral palsy and decreased oxygen to the brain
 Frequent urinary tract infections
 Hydrocephalus
 Loss of bowel or bladder control
 Meningitis
 Permanent weakness or paralysis of legs

OPTHALMIC CONGENITAL ANOMALIES
 Microphthalmia
 microphthalmos, is a developmental disorder of the eye in which
one (unilateral microphthalmia) or both (bilateral microphthalmia)
eyes are abnormally small and have anatomic malformations.
The presence of a small eye within the orbit ,most cases it is
abnormal and results in blindness.

CAUSES:
 fetal alcohol syndrome
 infections during pregnancy
 herpes simplex virus
 rubella and cytomegalovirus (CMV)
 Genetic causes include chromosomal abnormalities
(Trisomy 13 (Patau syndrome)
 Triploid Syndrome

DIAGNOSED
 During pregnancy,
 ultrasound or a CT scan (special x-ray test) and
sometimes with certain genetic testing.
 After birth,
A doctor will also perform a thorough physical exam .

TREATMENT
 There is no treatment
 An ocularist, a healthcare provider who is specially
trained in making and fitting prosthetic eye
 An oculoplastic surgeon, a doctor who specializes in
surgery for the eye and eye socket.
 microphthalmia affects only one eye

ANOPHTHALMIA
 Anophthalmia is a birth defect where a baby is born
without one or both eyes and result in blindness or
limited vision occurrence.

OROFACIAL DEFECTS.
 Cleft lip and palate
 Cleft lip and cleft palate, also known as orofacial cleft and cleft lip and
palate.
 it is a group of conditions that includes cleft lip (CL), cleft palate (CP),
and both together (CLP)
 A cleft lip contains an opening in the upper lip that may extend into the
nose. The opening may be on one side, both sides, or in the middle. A
cleft palate is when the roof of the mouth contains an opening into the
nose.

DEFINITION OF CLEFT LIP (CHEILOSCHISIS)
 It is defined as a congenital anomaly in which there
is presence of a fissure at upper lip, which occurs
due to failure at upper lip ,due to failure of fusion of
maxillary and median nasal processes.

DEFINITION OF CLEFT PALATE (PALATOSCHISIS):
 It is defined as a congenital anomaly in which there
is a fissure at roof of the mouth which occurs due
to failure of fusion of the lateral palatine processes,
the nasal septum and the median palatine
processes.

ETIOLOGY
 Multiple factors may be involved, like:
 Genetics (inherited characteristic) from one or both
parents .
 Environmental factors
 Drugs: corticosteroids (anti-inflammatory), phenytoin
(anticonvulsant), retinoid.
 Infections: like rubella during pregnancy.
 Alcohol consumption.
 Smoking
 Hypoxia during pregnancy.
 some of dietary and vitamins deficiencies (like folic
acid and vitamin A deficiency)
 Maternal Age.

TYPES OF CLEFT LIP
 cleft does not affect the palate structure of the mouth it
is referred to as cleft lip.
 Cleft lip is formed in the top of the lip as either a small
gap or an indentation in the lip (partial or incomplete
cleft) or it continues into the nose (complete cleft).
 Lip cleft can occur as a one sided (unilateral) or two
sided (bilateral). It is due to the failure of fusion of the
maxillary and medial nasal processes (formation of the
primary palate).
 A mild form of a cleft lip is a microform cleft. A microform
cleft can appear as small as a little dent in the red part
of the lip or look like a scar from the lip up to the nostril.

Unilateral incomplete
Unilateral complete Bilateral complete

TYPES OF CLEFT PALATE:
 Cleft palate is a condition in which the two plates of the
skull that form the hard palaten(roof of the mouth) are
not completely joined.
 The soft palate is cleft. In most cases, cleft lip is also
present. Palate cleft can occur as complete (soft and
hard palate, possibly including a gap in the jaw) or
incomplete (a 'hole' in the roof of the mouth, usually as a
cleft soft palate).
 When cleft palate occurs, the uvula is usually split. It
occurs due to the failure of fusion of the lateral palatine
processes, the nasal septum, and/or the median
palatine processes (formation of the secondary palate).
 The hole in the roof of the mouth caused by a cleft
connects the mouth directly to the inside of the nose.

Incomplete cleft
palate
Unilateral complete
lip and palate
Bilateral complete lip
and palate

SIGN AND SYMPTOMS
 Feeding problems.
 Failure to gain weight.
 Flow of milk through nasal passages during
feeding.
 Poor growth.
 Repeated ear infection.
 Speech difficulties
 Dental abnormalities
 Middle ear fluid build up and hearing loss.

DIAGNOSIS:
 Prenatal Diagnosis
 Cleft lip can be easily diagnosed by performing
ultrasonography in the second trimester
 Diagnosing a cleft palate with ultrasonography is
very difficult
 Three-dimensional imaging has been introduced to
prenatal ultrasonography diagnostics of cleft
anomalies
 Initial assessment
 Proper new born examination

MEDICAL MANAGEMENT
 Assessment of the child: carefully perform the head
to toe assessment of the child immediately after the
birth.
 Reassurance to parents: assess the need for the
surgical correction and asses s the parents
understanding of the defect and the need for the
surgery
 Assess the feeding pattern of the childe .

SURGICAL MANAGEMENT
 Chieloplasty.
 Platatoplasty.

COMPLICATION
 Feeding problem.
 Ear infections and hearing loss
 Speech and language delay.
 Dental problem

TRACHEO-OESOPHAGEAL FISTULA AND
OESOPHAGAL ATRESIA
 Tracheo-oesophageal fistula and Oesophagal
Atresia are the malformation of digestive system, In
which oesophagus does not develop properly. The
oesophagus is a tube that normally carries food
from the mouth to stomach.

 Atrasia: Congenital absence or closure of a normal
body opening.
 Norm al
 Normal Atrasia

 Fisula: Is a permanent abnormal passageway
between two organs in the body or between an
organ and the exterior of the body.

Normal
Fistual

 Definition Oesophagal Atresia
Oesophagal Atresia is the failure of oesophagus to
form a continuous passage from the pharynx to the
stomach.

ETIOLOGY
 The cause of Tracheo-oesophageal fistula and
Oesophagal Atresia .
 occurring in families 2% risk of recurrence is
present when a sibling is affected
 trisomies 21, 13, and 18 further suggests genetic
causation

TYPE A:
 In this type, there is Oesophagal Atresia and
proximal and distal segments of oesophagus are
blind. There is no communication between trachea
and oesophagus. This type is present in 3-7 % of
cases.

TYPES B:
 In this type, Oesophagal Atresia is present and the
blind proximal segment of oesophagus connects
with trachea by a fistula. The distal end of
oesophagus is blind. This type is present in 0.8 %
cases.

TYPE C:
 In this type, Oesophagal Atresia is present. The
proximal end of oesophagus is a blind pouch and
distal segment of oesophagus is connected by
fistula to trachea. This is the commonest type,
present in about 87 % cases.

TYPE D:
 It is the rarest type that occurs in 0.7 % cases. In
this type, both upper and lower segments of
oesophagus communicate with trachea.

TYPE E:
In this type, oesophagus and trachea are normal and
completely formed but are connected by a fistula.
This type is also known as ‘H’ type and is present in
4.2% cases.

CLINICAL MANIFESTATIONS
 Violent response occurs on feeding
 Infant coughs and chokes
 Fluid returns through nose and mouth.
 Cyanosis occur
 The infant struggles
 Excessive secretions coming out of nose and constant
drooling of saliva.
 Saliva is frothy.
 Abdominal distension occurs in presence of type III, IV
and V fistula.
 Intermittent unexplained cyanosis and laryngospasm,
caused by aspiration of accumulated saliva in blind
oesophageal pouch.
 Pneumonia may occur due to overflow of milk and saliva
from oesophagus through fistula into the lungs.

DIAGNOSTIC EVALUATION:
 TEF detected antnatally by,
 Ultrasound examination reveals polyhydramnios,
absence of a fluid-filled stomach, a small abdomen,
lower-than-expected fetal weight, and a distended
esophageal pouch.
 Fetal MRI may be used to confirm the presence of
EA/TEF

 TEF detected postnatally by
 X-ray taken with radiopaque catheter placed in
esophagus to check for obstruction; standard chest
X- ray shows a dilated air-filled upper esophageal
pouch and can demonstrate pneumonia.
 Inability to pass a NG tube into stomach because
it meets resistance:;
 Bronchoscopy visualizes fistula between trachea
and esophagus;
 Abdominal ultrasound and echocardiogram to
check for cardiac abnormalities.

TREATMENT:
 Surgical intervention depends on the distance between
proximal and distal pouch of oesophagus, type of defect,
condition of neonate and his weight.
 If distance between upper and lower oesophageal
segments is less than 2.5 cm and if the condition of
infant is good.
 primary repair is done by division and ligation of the
fistula along with end-to-end anastomosis of proximal
and distal segments of oesophagus.

STAGING SURGERY
 Initially in the first stage, the trachea-oesophageal
fistula is ligated and gastrostomy done to reduce
the risk of reflux and to provide feeding.
 In the second stage, both proximal and distal
oesophageal segments are anastomosed. If the
gap is too large, a segment of colon is used for
reconstruction of the oesophagus. This is done at
about 18-24 months.


CONGENITAL DIAPHRAGMATIC HERNIA
 Congenital diaphragmatic hernia (CDH) is a congenital
malformation (birth defect) of the diaphragm Congenital
diaphragmatic hernia (CDH) is a structural birth defect
characterized by protrusion of abdominal viscera into
the thorax through an abnormal opening or defect that is
present at birth

TYPES OF CONGENITAL DIAPHRAGMATIC HERNIA
 The Bochdalek hernia, also known as a postero-
lateral diaphragmatic hernia,
 In this instance the diaphragm abnormality is
characterized by a hole in the postero-lateral corner
of the diaphragm which allows passage of the
abdominal viscera into the chest cavity.
 The majority of Bochdalek hernias (80-85%) occur
on the left side of the diaphragm,.
 which involves an opening on the left side of the
chest Slightly more common in boys Shifting the of
the heart and the mediastinal to the left, causing
cardiac compression .

 Morgagni hernia: This rare anterior defect of the
diaphragm approximately 2% of all CDH cases, it is
characterized by herniation through the foramina of
Morgagni which are located immediately adjacent and
posterior to the xiphoid process of the sternum

 Diaphragm eventration: The diagnosis of congenital
diaphragmatic eventration is used when there is
abnormal displacement (i.e. elevation) of part or all of an
otherwise intact diaphragm into the chest cavity. This
rare type of CDH occurs because in the region of
eventration the diaphragm is thinner, allowing the
abdominal viscera to protrude upwards.

ETIOLOGY
 chromosomal anomalies including trisomy 13,
trisomy 18
 CDH can occur as part of a multiple malformation
syndrome in up to 40% of infants (cardiovascular,
genitourinary, and gastrointestinal malformations)
 Inherited genetically from the parents.
 Result of damage or infection in the uterus, or may
have occurred at time of birth.

CLINICAL MANIFESTATION
 Abdominal contents have displaced the lungs and heart.
 Newborn have severe respiratory difficulty .
 Tychypnoea.
 Dyspnoea .
 Retractions & cyanosis.
 The affected side of the chest does not expand as
does not expand as does the unaffected side.
 The abdomen is small and scaphoid in contour.
 Shock
 Hypoxia.
 Uncomfortable after feeding.
 Constipation.
 Intestinal obstruction.

Diaphragmatic hernia. The abdominal
viscera have herniated into the thorax. The
thoracic viscera have been displaced and
compressed.

INVESTIGATION AND MANAGEMENT
 Chest x-ray.
 Ultrasound.
 CT scan of thorax

NURSING MANAGEMENT
 At birth ,a severely affected neonate requires
resuscitation .
 The use of positive pressure may be necessary but it
must be done carefully
 using a mask or endotracheal tube .
 Inspiratory pressure must not be more than 20cm of
water in order to prevent pneumothorax.

PREOPERATIVE CARE
 The infant is placed on the affected side to allow for expansion of
the lung that is not severely compressed and in semi-F owler’s
position in order that the abdominal viscera may proceed by
gravity into the abdominal cavity.
 Adequate assessment involves continuous cardiac monitoring,
 arterial blood gas (ABG) and systemic pressure measurements,
urinary catheterization to monitor fluid resuscitation.

ECMO (EXTRA CORPOREAL MEMBRANE
OXYGENATION)
 Some infants with severe breathing problems may
need to be placed on a temporary heart/lung
bypass machine called ECMO. ECMO does the job
that the heart and lungs would be doing:

POSTOPERATIVE CARE
 Surgery consists of replacing the abdominal viscera in the
abdominal cavity and repairing the diaphragmatic defect .this
may be done by either the thoracic or abdominal route.
 close the hole in the diaphragm.
 The infant’s lungs must be able to deliver adequate oxygen to
the body and maintain good blood flow through the vessels
prior to the operation

ANO RECTAL MALFORMATIONS
 Anorectal malformations are congenital defects
where the anus (the opening at your bottom where
poo is passed) and rectum (the lower end of the
digestive tract immediately above the anus) have
not properly formed preventing faeces (poo)
passing through the anus.

INCIDENCES
 Anorectal malformations in children affect one in
5,000 babies and are slightly more common in
males. The exact cause of anorectal malformations
in children is unknown. In some cases,
environmental factors or drug exposure during
pregnancy may play a role

ABNORMALITIES THAT OCCUR
 The anal passage may be narrow or misplaced in
front of where it should be located.
 A membrane may be present over the anal
opening.
 The rectum may not connect to the anus.
 The rectum may connect to part of the urinary tract
or the reproductive system through a passage
called a fistula, and an anal opening is not present.

ASSOCIATED DISORDERS
 spinal abnormalities, such as hemivertebra,
absent vertebra and tethered spinal cord
 Kidney and urinary tract malformations, such as
horseshoe kidney and duplication of parts of the
urinary tract
 Congenital heart defects
 Tracheal and esophageal defects and disorders
 Limb (particularly forearm) defects
 Down syndrome.

DIAGNOSIS
 Abdominal X-rays: These provide a general overview of
the anatomical location of the malformation in a cross-
table lateral view, and may help determine if it's high or
low in the anorectal area.
 Abdominal ultrasound and spinal ultrasound: These are
used to examine the urinary tract and spinal column.
 Echocardiogram: This test is performed to determine if
there are heart defects.
 Magnetic resonance imaging / MRI: In selected cases,
this diagnostic study is necessary to make a definite
diagnosis of tethered cord or other spinal abnormalities.
It is also used to help define the anatomy of pelvic
muscles and structures.

TREATMENT
Rectoperineal Malformation
 anoplasty.
 Newborn boys and girls diagnosed with anorectal
malformations without a fistula will require one or more
operations to correct the malformation.
 operation to create a colostomy is generally initially
performed

AFTER TREATMENT, SURGERY
 A few weeks after surgery, parents are taught to
perform anal dilatations to ensure the anal opening
is large enough to allow normal passage of stool.
 The colostomy is closed in another operation at
least six to eight weeks later. Several days after
surgery, the child will begin passing stools through
the rectum.
 Shortly after surgery, stools may be frequent and
loose, and diaper rash and skin irritation can also
be a problem.

 Within a few weeks after surgery, however, stools
become less frequent and firmer. Anal dilatations
should continue for several weeks or months.
 Some infants may become constipated. To avoid
this, we encourage following a high-fiber diet.
Laxatives may be required prior to the age of potty
training.
 In cases of severe constipation, a bowel
management program may be developed according
to the particular needs of the child.
 Toilet training children

GASTROSCHISIS AND OMPHALOCELE
 common abdominal wall defects gastroschisis and
omphalocele.
Definitions
 Gastroschisis is a full-thickness defect in the
abdominal wall usually just to the right of a normal
insertion of the umbilical cord into the body wall.

 An omphalocele (also known as exomphalos) is a
midline abdominal wall defect of variable size, with the
herniated viscera covered by a membrane consisting of
peritoneum on the inner surface, amnion on the outer
surface, and Wharton’s jelly between the layers. The
umbilical vessels insert into the membrane and not the
body wall.

OMPHALOCELE (EXOMPHALOS)
 Gut contents are normally extruded out in the 5th
week of fetal life.
 Around 9th week, the extruded gut contents come
back into the abdominal cavity
 If there is failure on part of the gut contents to come
back into the abdominal cavity in entirety, then a
part of the gut remains outside.
 This mass of tissue is ensheathed by a membrane
called amnion
 this membrane affords protection against both
infection and loss of extracellular fluid.
 Typically the umbilical cord is at the apex of the
mass.

GASTROSCHISIS
 Gut contents are normally extruded out in the 5th week
of fetal life
 During this time the pleuro peritoneal cavities which are
in unison get divided into thoracic and abdominal
cavities by the newly formed diaphragm (7th week)
 around 9th week, the extruded gut contents come back
into the abdominal cavity.
 unlike an omphalocele, gut contents enter back in
entirety at 9th week.
 owing to a disruption in blood supply from the
omphalomesenteric artery, there is ischemia and
atrophy of several layers of abdominal wall at base of
the umbilical cord.
 This leads to an area of weakness in the abdominal
wall.

ASSOCIATED CONGENITAL ANOMALIES
 chromosomal abnormalities (Trisomy 13, 18, 21,
Turner’s and Klinefelter synd)
 60-70% infants have associated malformations
 Cardiovascular, genitourinary, CNS.
 Bowel atresia
 Imperforate anus.

SYMPTOMS
 Lump in the abdomen
 Intestine sticks through the abdominal wall near the
umbilical cord
 Problems with movement and absorption in the gut
due to the unprotected intestine being exposed to
irritating amniotic fluid .

TREATMENT
 If identified before birth, mothers with gastroschisis need
special monitoring to make sure the un born baby
remains and healthy
 Plans should be made for careful delivery and
immediate management of the problem after birth.
 Treatment for gastroschisis is surgery. A surgeon will put
the bowel back into the abdomen and close the defect, if
possible
 If the abdominal cavity is too small, a mesh sack is
stitched around the borders of the defect and the edges
of the defect are pulled up
 Over time, the herniated intestine falls back into the
abdominal cavity, and the defect can be closed

 Other treatments for the baby include nutrients by
IV and antibiotics to prevent infection
 The baby's temperature must be carefully
controlled, since the exposed intestine allows a lot
of body heat to escape.

MUSCULOSKELETAL DEFECTS
 Abnormal positions of the feet
1. Metatarus varus (adducts)
A line on the sole of the foot from the middle of the
heel should normally run through the second toe .
Metatarsus varus (Metatarsus adducts, or pigeon toe)
is commonly observed condition in the neonate in
whom the lines ends lateral to its normal position .The
toes and forefoot are in medial adduction and also
frequently inverted because of angulations at a tarso
metatasal joint.

CAUSES
 The baby's bottom was pointed down in the womb
(breech position).
 oligohydramnios
 family history .

SYMPTOMS
 The front of the foot is bent or angled in toward the
middle of the foot. The back of the foot and the
ankles are normal.

TREATMENT
 correctable by splinting
 Children with metatarsus varus requiring cast correction are
best treated at the age of 2 - 4 months (<8mo)
 For more fixed deformity a casting program consisting of serial
casts changed twice a week for ~ 4 weeks rapidly corrects the
deformity
 After 6 - 8 months, the deformity is so rigid and the child so
strong that cast correction is nearly impossible
 The heel must be held in varus with the fulcrum for forefoot
correction at the cuboid laterally
 A bent long leg cast prevents escape from the cast
 Surgical correction for metatarsus varus is rarely indicated
 At 4 years or older surgical options are: Osteotomy of all five
metatarsals

CLUBFOOT
 Clubfoot is a condition in which one or both feet are
twisted into an abnormal position at birth. Common
birth defect.Other terms Giles Smith Syndrome,
congenital talipes aquinovarus (CTEV).The
condition is also known as talipes.

CAUSES
 Family history of clubfoot.
 Position of the baby in the uterus.
 Increased occurrences in those children with
neuromuscular disorders, such as cerebral palsy
and spina bifida.
 Amniotic Band Syndrome
 Oligohydramnios

MANIFESTATION
 Fixed plantar Flexion of the ankle, characterized by
the drawn up position of the heel and inability to
bring the foot to a plantigrade (flat) standing
position.
 Adduction, or turning in of the heel or hind foot.
 Adduction turning under of the forefoot and mid foot
giving the foot a kidney-shaped appearance.
 Abnormal slightly smaller size of foot & calf
muscles.
 The heel cord (Achilles tendon) is tight causing the
heel to be drawn up toward the leg

DIAGNOSTIC PROCEDURES
 Ultrasonography .
 X-ray.
 CT-scan

CONGENITAL DYSPLASIA OF THE HIP
 It is caused by a varying degree of displacement of the
fetal femoral head of displacement of the fetal femoral
head from the acetabulum, In congenital dysplasia of
the hip ,various degree of deformity may be caused by
abnormal development of the components of the hip
joint the head of the femur ,the acetbulum abd the
surrounding capsule and soft tissue.

ACHONDROPLASIA
 It is a common cause of dwarfism. It occurs as a 80% of
cases (associated with advanced paternal age) or it may be
inherited as an autosomal dominant genetic disorder.People
with achondroplasia have short stature, with an average adult
height of 131 centimeters (52 inches) for males and 123
centimeters (48 inches) for females. Achondroplastic adults
are known to be as short as 62.8 cm

SIGNS AND SYMPTOMS
 Disproportionate dwarfism
 Shortening of the proximal limbs (called rhizomelic
shortening)
 Short fingers and toes with trident hands
 Large head with prominent forehead frontal bossing
 Small midface with a flattened nasal bridge
 Spinal kyphosis (convex curvature) or lordosis(concave
curvature)
 Varus (bowleg) or valgus (knock knee) deformities
 Frequently have ear infections (due to Eustachia tube
blockages), sleep apne

DEVELOPMENTAL MAFORMATIONS OF
THE EXTREMITIES
 Polydactyly
This is developmental anomaly in which there are
supernumerary digits(fingers or toes) on the hands
or feet. On the hands, these most frequently occur
at the fifth finger or the thumb.
 syndactyly
Syndactyly (from Greek meaning "together" and
meaning "finger") is a condition where in two or
more digits are fused together.

REDUCTION DEFORMITIES
 congenital limb deficiencies are caused by a
primary inhibition of intrauterine development of
the bones and tissues of the extremities. There are
various degree of limb deficiency.

 Amelia:The absence of limb or limbs.
 Hemimelia:The absence of all or part of the distal half
of a limb ,such as a the forearm and hand or lower leg
foot.
 Phocomelia: The absence of the proximal portion of
limb or limbs, the hand s or feet being attached to the
trunk of the body by an irregular shaped bone .

DEVELOPMENTAL DISORDERS
 Patau syndrome
 Patau syndrome is a syndrome caused by a
chromosomal abnormality, in which some or all of the
cells of the body contain extra genetic material from
chromosome 13. This can occur either because each
cell contains a full extra copy of chromosome 13 (a
disorder known as trisomy 13 or trisomy –D.

SIGNS AND SYMPTOMS
 Nervous system
 Intellectual disability and motor disorder
 Microcephaly
 Holoprosencephaly (failure of the forebrain to
divide properly).
 Structural eye defects, including microphthalmia,
Peters' anomaly, cataract, iris and/or fundus
(coloboma), retinal dysplasia or retinal
detachment, sensory nystagmus, cortical visual
loss, and optic nerve hypoplasia
 Meningomyelocele (a spinal defect)

DOWN SYNDROME
 Down syndrome (DS or DNS) or Down's syndrome, also
known as trisomy 21, is a genetic disorder caused by
the presence of all or part of a third copy of
chromosome 21. It is typically associated with physical
growth delays, characteristic facial features, and mild to
moderate intellectual disability.

EDWARDS SYNDROME
 Edwards syndrome (also known as trisomy18 is a
chromosomal abnormality caused by the presence
of all, or part of, an extra 18th characteristics:
kidney malformations, structural heart defects at
birth (i.e., ventricular septal defect, atrial septal
defect, patent ductus arteriosus), intestines
protruding outside the body (omphalocele,
esophageal atresia, intellectual disability,
developmental delays, growth deficiency, feeding
difficulties, breathing difficulties, and
arthrogryposis(a muscle disorder that causes
multiple joint contractures at birth).

GENITOURINARY SYSTEM
 Hypospadias
 Hypospadias is a birth defect of the penis that
commonly has four characteristics:
 The urethral opening is located on the underside of
the penis, instead of the tip, and may exit the penis
anywhere along its shaft as high as the scrotum.
 The urethral opening is unusually narrow.
 The entire foreskin may be bunched on the topside
of the penis.
 The penis itself may be curved to one side.

CAUSES OF HYPOSPADIAS
 The causes of hypospadias are unknown. There is
a family history of hypospadias.

OBSTRUCTIVE DEFECTS OF THE RENAL PELVIS
 An obstructive defect of the renal pelvis means that urine can't
drain properly from the kidneys into the bladder. This is
caused by a blockage in the ureters. One or both ureters may
be affected. The urine backs up the ureters into the kidneys
and, without treatment, can lead to persistent urinary tract
infections and kidney failure

CAUSES OF OBSTRUCTIVE DEFECTS OF THE RENAL
PELVIS
 Unusual twists or bends in the ureter
 A blood vessel pressing on the ureter
 Malformations of the surrounding muscle tissue.

RENAL AGENESIS
 Renal agenesis means that one or both kidneys are
missing

ABNORMAL CHARACTERISTICS THAT MAY BE
ASSOCIATED WITH BILATERAL RENAL AGENESIS
 Absent bladder.
 Underdeveloped lungs (hypoplastic lung
syndrome).
 Absent sex organ structures, such as the vas
deferens and seminal vesicles in males, and the
uterus in females.
 Absent rectum and anus (anorectal atresia).
 Gap in the oesophagus (oesophageal atresia).
 Malformations of the legs.

SEO-Optimized Title for a Document on Congenital Anomalies

SEO-Optimized Title for a Document on Congenital Anomalies

Recommended

Recommended

More Related Content

What's hot

What's hot (20)

Similar to SEO-Optimized Title for a Document on Congenital Anomalies

Similar to SEO-Optimized Title for a Document on Congenital Anomalies (20)

Recently uploaded

Recently uploaded (20)

SEO-Optimized Title for a Document on Congenital Anomalies