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Congenital Abnormalities
Congenital Abnormalities
ABNORMALITIE
S NJIRAINI
1
Define congenital
abnormalities
abnormalities
1. Deletion
Sex 2. Duplication
Autosomes
chromosomes 3. Inversion
4. Translocation
Turner
Down syndrome Congenital
syndrome
abnormalities
(if unbalanced)
2. Single gene defect
(Mendelian inheritance)
4. Multifactorial diseases
DM
HTN
Spina bifida
5. Teratogens
These include..
-Gastroschisis
-Atresias
-Exomphalos
Gastroschisis
Artrificial Sac
Post Operation
duodenal
small bowel
colonic
anorectal.
Oesophageal atresia is an obstruction of the oesophagus due
to a section of the oesophagus which is missing. It is usually
associated with a connection (fistula) between the lower
oesophagus and the bronchi of the lungs.
TREATMENT
The infant should be checked for other problems,
especially those affecting the genitals, urinary tract, and
spine.
3.HIRSCHSPRUNG‘S
DISEASE
A volvulus is a bowel obstruction with a loop of bowel
has abnormally twisted on itself.
that
SINGS AND SYMPTOMS
….Bowel obstruction, manifested as abdominal distension and
vomiting.
Laparotomy
In meconium ileus the meconium is
particularly viscous and causes intestinal
obstruction.
Symptoms include emesis that may be
bilious, abdominal distention, and failure to
pass meconium.
Diagnosis is based on clinical presentation
and x-rays.
Treatment is enemas with dilute contrast
under fluoroscopy and surgery if enemas fail.
Hirschsprung's disease is a blockage of the
large intestine due to improper muscle
movement in the bowel. It is a congenital
condition.
CAUSES:
Muscle contractions in the gut help digested materials move
through the intestine. This is called peristalsis. Nerves in
between the muscle layers trigger the contractions.
CLEFT PALATE
A fissure in the midline of the
palate due to failure of the two
sides to fuse in embryonic
development. It may be
accompanied by a cleft lip and
disturbance of tooth formation .
Unilateral in Unilateral complete Bilateral complete
complete
Cleft lip repair. The edges of the cleft between the lip and nose are cut (A and B). The
bottom of the nostril is formed with suture (C). The upper part of the lip tissue is
closed (D), and the stitches are extended down to close the opening entirely (E).
Diaphragmatic Hernia
Choanal Atresia
Laryngeal Stridor
A diaphragmatic hernia is
a birth defect in which
there is an abnormal
opening in the
diaphragm, the muscle
that helps you breathe.
The opening allows part
of the organs from the
belly
(stomach, spleen, liver, a
nd intestines) to go up
into the chest cavity near
the lungs.
Diaphragmatic hernia is caused by the
improper joining of structures during fetal
development. As a result, the abdominal
organs such as the stomach, small intestine,
spleen, part of the liver, and the kidney
appear in the chest cavity. The lung tissue on
the affected side is thus not allowed to
completely develop.
Most affect the left side.
Severe breathing difficulty
Bluish colored skin due to lack of oxygen
Rapid breathing (tachypnea)
Fast heart rate (tachycardia)
DIAGNOSIS
The pregnant mother may have excessive amounts
of amniotic fluid. Fetal ultrasound may show
abdominal contents in the chest cavity.
Examination of the infant shows:
Irregular chest movements
Absent breath sounds on affected side
Bowel sounds heard in the chest
Abdomen feels less full on examination by touch
(palpation)
A chest x-ray may show abdominal organs in chest
cavity.
1
The chest cavity includes
the heart and lungs.
The abdominal cavity
includes the liver, the
stomach, and the small
and large intestines. The
two regions are
separated by the
diaphragm, the large
dome-shaped muscle.
2
When the diaphragm develops with a hole in
it, the abdominal organs can pass into the
chest cavity. The lung tissue on the affected
side is compressed, fails to grow normally,
and is unable to expand after birth. As the
child begins to breathe, cry, and swallow, air
enters the intestines that are protruding into
the chest. The increasing size of the intestines
puts pressure on the other side of the chest,
lung, and heart and can quickly cause a life-
threatening situation.
The indications for a diaphragmatic hernia
repair include:
1.chest X-rays showing diaphragmatic hernia
2.severe breathing difficulty (respiratory
3.distress) shortly after birth
4.prenatal ultrasound often identifies a
diaphragmatic hernia
3 4
SYMPTOMS
Newborns generally prefer to breathe through their nose.
Typically, infants only mouth breathe when they cry. Babies
with choanal atresia have difficulty breathing unless they are
crying
Chest retracts
crying Difficulty
Cyanosis (bluish discoloration)
Inability to nurse and breathe at same time
Inability to pass a catheter through each side of the nose into
the throat
Persistent one-sided nasal blockage or discharge
The immediate concern is to resuscitate the baby
if necessary. An airway may need to be placed
so that the infant can breathe. In some cases,
intubation or tracheostomy may be needed.
An infant can learn to mouth breathe, which can
delay the need for immediate surgery.
Surgery to remove the obstruction cures the
problem. Surgery may be delayed if the infant
can tolerate mouth breathing. The surgery may
be done through the nose (transnasal) or through
the mouth (transpalatal).
Laryngomalacia (also called congenital laryngeal
stridor) results from a congenital (present at birth)
anomaly of the larynx (voice box). A weakness in
the structures in the larynx, can cause stridor.
Stridor is a high-pitched sound that is heard best
when the child breaths in (inspiration).
CAUSE
Laryngomalacia is a defect that is present at
birth. During fetal development, the structures
in the larynx may not fully develop. As a result,
there is a weakness in these structures at
birth, causing them to collapse during
breathing
In most cases, laryngomalacia is a harmless condition that
resolves on its own, without medical intervention. The
condition usually improves by the time the infant is 18
months old, but Each child's case is unique.
POSTNATAL
RECOGNITION:
Clinically babies with cardiac anomalies can
be divided into two groups
1.Central Cyanosis
2.Acyanotic Cardiac Defects
Defects included in this group
are:
1. Transportion of the great arteries
2. Pulmonary atresia
3. Tetra logy of fallot
4. Tricuspid atresia
5. Total anomalous pulmonary venous drainage
6. Univentricular/complex heart
"transposed" literally means "swapped―
(exchanged or substitute)
A congenital abnormality of the heart in which
the aorta arises from the right ventricle and the
pulmonary artery from the left ventricle.
(Myles
)
Alcoholism
Diabetes
Shortness of breath
The health care provider may detect a heart
murmur while listening to the chest with a
stethoscope. The baby's mouth and skin will be a
blue color.
Tests often include the following:
Cardiac catheterization
Chest x-ray
ECG
Echocardiogram (if done before birth, it is called
a fetal echocardiogram)
Pulse oximetry (to check blood oxygen level)
The baby will immediately receive a medicine called
prostaglandin through an IV (intravenous line). This
medicine helps keep a blood vessel called the ductus
arteriosus open, allowing some mixing of the two
blood circulations.
A procedure using a long, thin flexible tube (balloon
atrial septostomy) may be needed to create a large
hole in the atrial septum to allow blood to mix.
A surgery called an arterial switch procedure is used
to permanently correct the problem within the baby's
first week of life. This surgery switches the great
arteries back to the normal position and keeps the
coronary arteries attached to the aorta.
Women who plan to become pregnant should
be immunized against rubella if they are not
already immune. Eating well, avoiding
alcohol, and controlling diabetes both before
and during pregnancy may be helpful.
Pulmonary atresia is a form of heart disease that
occurs from birth in which the pulmonary valve
does not form properly. (The pulmonary valve is
an opening on the right side of the heart that
regulates blood flow from the right ventricle
(right side pumping chamber) to the lungs.)
SYMPTOMS
Symptoms usually occur in the first few hours of
life, although it may take up to a few days.
Bluish colored skin (cyanosis)
Fast breathing
Fatigue
Poor eating habits (babies may get tired while
nursing or sweat during feedings)
Shortness of breath
prostaglandin E1 is usually used to help the
blood move (circulate) into the lungs. This
medicine keeps a blood vessel open between
the pulmonary artery and aorta.
Palliative blalock shunt
Itusually occurs with a ventricular septal
defect or an atrial septal defect, or
both, allowing mixing of the circulation.
Potentially more distressing for parents are
the defects that do not initially present with
marked cyanosis. These babies may for a
long time be considered to be healthy.
Tetralogy of Fallot (TOF) is a
congenital heart defect
which is classically
understood to involve four
anatomical abnormalities
(although only three of
them are always present).
In this condition there is a
pulmonary outflow tract
obstruction, a ventricular
septal defect, right
ventricular hypertrophy and
an overriding aorta.
1. Persistant 2.Ventricular
ductus or atrial
arteriosus septal
(arterial defects
duct)
3.
Coarctation
of the
aorta
5.
4.Aotric Hypoplastic
left heart
stenosis syndrome
Patent ductus arteriosus (PDA) is a congenital
disorder in the heart wherein a neonate's
ductus arteriosus fails to close after birth.
Early symptoms are uncommon, but in the
first year of life include increased work of
breathing and poor weight gain. With age, the
PDA may lead to congestive heart failure if
left uncorrected.
A ventricular septal defect (VSD) is a defect in the
ventricular septum, the wall dividing the left and
right ventricles of the heart.
Ventricular septal defect is usually symptomless
at birth. It usually manifests a few weeks after
birth.
Most cases do not need treatment and heal at the
first years of life. Treatment is either
conservative or surgical. Smaller congenital VSDs
often close on their own, as the heart grows, and
in such cases may be treated conservatively.
Coarctation of the aorta, or aortic coarctation, is a
congenital condition whereby the aorta narrows in the area
where the ductus arteriosus inserts.
In mild cases, children may show no signs or symptoms at
first and their condition may not be diagnosed until later
in life.
Some children born with coarctation of the aorta have
other heart defects, too, such as aortic stenosis,
ventricular septal defect, patent ductus arteriosus or mitral
valve abnormalities.
Coarctation is about twice as common in boys as it is in
girls. It‘s common in girls who have Turner syndrome.
Therapy/Treatment is conservative if asymptomatic, but
may require surgical resection of the narrow segment if
there is arterial hypertension.
Aortic valve stenosis (AS) is a disease of the
heart valves in which the opening of the
aortic valve is narrowed.
Treatment is generally not necessary in
people without symptoms. In some cases,
echocardiography is performed every 1–
2 years to monitor the progression.
Hypo plastic left heart
syndrome (also
known as HLHS), is a
rare congenital heart
defect in which the
left ventricle of the
heart is severely
underdeveloped. Infant with cyanosis
due to hypo plastic
left heart
syndrome
Ingestion of folic acid supplements prior to
conception and during the early stages of
pregnancy has helped prevent such abnormalities.
If patient do not take folic acid in early stages
they end up with ―.Termination Of Pregnancy.‖
The abnormalities include:
• Anencephaly
• Spina bifida
• Hydrocephalus
• Microcephaly
Anencephaly:-
The absence of the forebrain and vault of the skull. It is the
condition that is incompatible with sustained life but
occassionally such a baby is born alive.
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.
Spina bifida
SpinaBifida is failure of
the vertebral column.
There is no skin covering
the defect, which allows
protrusion of the
meninges.
Long Term Effects
OR
The occipitofrontal circumference is
more than two standard deviations
below normal for gestational age, the
disproportionally small head.
Causes
Intrauterine infection
e.g.
Rubella.
Alcohol syndrome.
Some trisomic disorders,
That is chromosomal defect
e.g.
Down syndrome.
Sign and
symptoms
Depending on the severity of the accompanying syndrome,
children with microcephaly may have:
mental retardation
delayed motor functions and speech
facial distortions
Dwarfism or short stature
Hyperactivity
Seizures
difficulties with coordination and balance
other brain or neurological abnormalities.
Polydactyly
More than the normal number of fingers or toes. From the
Greek "polys" (many) + "dactylos" (finger) = many fingers or,
medically, too many fingers. Polydactyly is the opposite of
oligodactyly (too few fingers or toes).
(medicinenet.com)
Syndactyly
A condition in which fingers or toes are partially joined
together. Syndactyly can involve the bones or just the
skin. With partial syndactyly, the connection extends
from the base only partway up the involved digits.
(medicinenet.com)
MANAGEMENT
Polydactyly
Can be corrected surgically to improve appearance and functioning
Usually done at 1 year of age so skeletal development is complete and
accurate anatomic assessment can be done
May require reconstruction of any associated abnormalities in remaining digit
Cast and soft dressing may be used until healed
Syndactyly
Treatment aimed at maintaining and improving function with
cosmetic
benefits
Involves surgery and may require skin graft from groin area.
Surgery usually done after one year and may be delayed as late as 18-24
months.
Whether or not any surgical division needs to be carried out depends on the
degree of fusion.
Limb reduction anomaly
Limb reduction anomalies is a condition in which a baby
is
born with a limb deficit.
OR
A birth defect where all or part of a limb is absent.
OR
Causes
The causes of talipes is the abnormal position
of the feet and limited space in the womb
during fetal development, which can result in
malformed tendons, muscles and bones.
the lack of amniotic fluid in the sac surrounding
the fetus, or oligohydramnios, can increase
pressure on the feet, leading to talipes as well.
Treatment
Capillary malformations:
These are due to defects in the dermal
capillaries. The most commonly
observed are ‗stork marks‘. These
are usually found on the neck of the
skin. They are generally small and
will fade. No treatment is necessary.
Port wine stain:
A port wine stain is usually a large flat patch of purple or dark
red skin with well-defined borders. At birth the surface of the
port-wine stain is flat, but in time it becomes bumpy and
often more unsightly. The face is most commonly affected
although they can occur anywhere on the body.
Causes:-
PUV are the most common cause of severe types of
urinary tract obstruction in children. It is thought to
develop in the early stages of fetal development. The
abnormality affects only male infants. This disorder is
usually sporadic (occurs by chance). However, some
cases have been seen in twins and siblings,
suggesting a genetic component.
Treatment:-
Initially, treatment may focus on relieving your child's symptoms.
If child has a urinary tract infection, is dehydrated, and/or has electrolyte
irregularities, these conditions will be treated first.
child may have a catheter placed in his bladder (a small hollow tube that is
inserted into the penis through the urethra and is threaded up into the
bladder).
child may also receive antibiotic therapy and intravenous (IV) fluids.
An urologist may perform a procedure called an endoscopic ablation. During
this procedure, the urologist will insert an endoscope, a small, flexible tube
with a light and a camera lens at the end. With this tube he/she will examine
the obstruction and remove the valve leaflets through a small incision.
In certain situations, a different procedure called a vesicostomy may be
required. A vesicostomy is a small opening made in the bladder through the
abdomen. Usually this opening is repaired at a later time when the valves
can be cut more safely.
Potter‘s syndrome:-
Cigarette smoking is linked with fetal growth restriction and premature birth.
Smoking may also cause problems with the development of the brain,
cardiovascular system, and respiratory system.
The use of opioid drugs, such as heroin or methadone, during pregnancy can
lead to fetal growth restriction, premature birth, and low birth weight.
Cocaine use is known to cause numerous problems during pregnancy. These
include miscarriage, fetal growth restriction, and problems with the
development of the urinary system or genital tract
Infections in the mother
Adam.com
Medicine.net
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