Congenital abnormalities of newborn
INTRODUCTION
Looking
forward to the arrival of a healthy baby is very prospective parents
dream. Sadly for some this dream is
shattered when the presence of some form of abnormality is recognized
prenatally, at birth or in the neonatal period.
The incidence of significant congenital malformalities is about 2-5% at
birth.
DEFINITION
Any
defect of form, structure or function occurring during conception or in fetal
life is termed as congenital abnormality.
ETIOLOGY
Genetics
The
defect is inherited through the genes in the ovum or sperm. Single gene disorder either autosomal or X
linked which may be dominant or recessive may be found.
Environmental
factors
·
Advancing
maternal age
·
Adverse
effects of drugs
·
Infections
·
Maternal
malnutritions, metabolic and endocrine disorders
·
Radiation
and chemicals
CONGENITAL ABNORMALITY
GASTRO
INTESTINAL MALFORMATIONS
OESOPHAGEAL
ATRESIA
Oesophageal
atresia occurs when there is incomplete canalization of the oesophagus in early
intrauterine development. It is commonly
associated with traches – oesophageal fistula.
ETIOLOGY
·
Unknown
cause
Factors influencing are
·
Heritable
genetic factors
·
Teratogenic
stimuli
·
Intra-Uterine
environment
CLINICAL
FEATURES
·
It
appears soon after birth
·
Excessive
salvation
·
Constant
drooling
·
Large
amount of secretions form nose.
·
Coughing
·
Gagging
·
Choking
·
Cyanosis
DIAGNOSIS
·
Antenatal
diagnosis by USG
·
Postnatal
diagnosis including USG, plain X-ray abdomen, chest X-ray or passing of
radio-opaque catheter through oesophagus
·
Bronchoscopy
·
ECG
MANAGEMENT
Medical
Management
·
Baby
should not be given by any oral fluids
·
O2
therapy
·
IV
fluid therapy
·
Nasogastric
Tube aspiration
·
Antibiotic
therapy
·
Respiratory
support
·
Chest
Physiotherapy
Surgical
Management
·
Gastrostomy
·
End
to end anastomosis with excision of the fistula by right postero lateral thoractomy.
·
Cervical
esophagostomy
·
Esophago-coloplasty
·
Esophagogastroplasy
Nursing
Management
Pre-operative
Management
·
Preventing
dehydration by IV fluids, in take and output recording, monitoring of vital
signs and childs general conditions.
·
Reducing
parentral anxiety by emotional support.
Post-operative
Mangement
·
Maintaining
clear airway.
·
Providing
adequate feeding by IV fluid and / or gastrostomy feeding.
·
Reducing
pain by analgesics and comfort measures.
·
Preventing
infections by general cleanliness, hygienic measures and administering
antibiotics.
·
Monitoring
childs condition and dectecting problem by early interventions.
PYLORIC
STENOSIS
Pyloric
stenosis arises from a genetic defect that causes hypertrophy of the muscles of
the pyloric sphincter.
ETIOLOGY
·
Unknown
cause
Etiological factors are
·
Maternal
stress in last trimester
·
Elevated
prostaglandin level
·
Deficiency
of nitric acid.
Clinical
features
·
It
usually found in 3-12 weeks of age
·
Occasional
regurgitation
·
Vomiting
·
Constant
hunger
·
Irritability
·
Failure
to thrive
·
Constipation
·
Decreased
quantity of stools and urine output.
DIAGNOSIS
·
Plain
X-ray abdomen
·
USG
·
Barium
meal X-ray
·
Blood
examination
·
Urine
Examination
MANAGEMENT
·
No
medical management
·
Surgical
management
·
Ramstedts
Pyloromyotomy
NURSING
MANAGEMENT
·
Maintain
fluid and electrolyte balance.
·
Nasogastric
aspiration.
·
Recording
of vital signs, hydration status, body weight, vomiting, stool, urine and signs
of complication.
CLEFT
LIP AND CLEFT PALATE
Cleft
lip and cleft palate are congenital malformations of face resulting from the
failure of fusion of first brachial arch during intra uterine development.
ETIOLOGY
·
Genetic
·
Unfavorable
maternal factors
·
Maternal
factors may be viral infections during 5th – 12th weeks
of gestation or ingestion of drug, exposure to x-ray, anaemia and
hypoproteinemia.
MANAGEMENT
Surgical
management
In
cleft lip cheiloplasty should be done at 2-3 months of age.
The
cleft palate palatoplasty should be done at about age of 1 to 2 years of age
Nursing Management
Preoperative
management
·
Cleft
lip and cleft palate should be collected at birth during initial neonatal
assessment.
·
Provide
emotional support to the parents.
·
Demonstration
to be given to the mother and family members regarding feeding of the baby to
prevent aspiration and to provide adequate nutrition for growth and
development.
·
The
infant to be placed in upright position during feeding.
·
Consent
must be taken before operation.
Post
Operative Management
·
Close
observation of the baby.
·
Monitoring
of vital signs
·
The
child should be kept dry, well feed and comfortable to prevent crying.
·
The
child should be placed on back in repair of cleft lip and on abdomen in prone
position for repairs of cleft palate.
·
Speech
therapy may be needed.
GASTROSCHISIS
AND EXOMPHALOS
Gastroschisis
is a paramedian defect of the abdominal
wall with extension of bowel that is not covered by peritoneum. It is very vulnerable to infection and
injury.
Exomphalos
or omphalocele is a defect which the bowel or other viscera protrude through
the umbilicus.
MANAGEMENT
Surgical
Management
·
Gastroschisis
is primary closure or making a temporary silo from synthetic material.
Nursing
Management
·
To
cover the herniated abdominal contents with warm sterile saline swabs to reduce
fluid and heat loses and to give protection.
·
Stomach
content should be aspirated.
·
Wrap
the baby or provide incubator care to reduce heat losses.
ABNORMALITIES
RELATED TO RESPIRATION
DIAPHRAGMATIC
HERNIA
It
is a defect in the diaphragm that allows herniation of abdominal contents into
the thoracic cavity. The baby will have acute respiratory distress with cyanosis,
unequal movements of thorax, absent breath sound.
CLINICAL
FEATURES
·
At
birth, the condition may be suspected if the baby is cyanosed, and difficulty
is experienced in resuscitation.
·
Majority
of defects are left sided, heart sounds will be displaced to the right.
·
The
abdomen may have a flat or scaphoid appearance
DIAGNOSIS
·
Chest
X-ray
·
Diagnosed
antenataly by ultrasound
MANAGEMENT
·
Insert
a nasogastric tube to prevent gaseous distention of bowel.
·
Continuous
gastric suction should be done.
·
Blood
gas should be monitored.
·
Provide
nitric oxide inhalation therapy.
·
Surgical
repair of hernia should be done.
CHOANAL
ATRESIA
Chonal
atresia is a unilateral or bilateral narrowing of the nasal passage with a web
of tissue or bone occluding the nasopharynx.
CLINICAL
FEATURES
·
Trachypnoea
·
Dyspnoea
DIAGNOSIS
·
Nasal
catheter cannot be passed into the pharynx
·
Baby’s
colour will improve with crying
MANAGEMENT
·
Maintain
a clear airway.
·
Surgery
is required to remove the obstructing tissue
CONGENITAL
CARDIAC DEFECT
VENTRICULAR
SEPTAL DEFECT
A
ventricular septal defect is an abnormal opening in the septum between right
and left ventricles.
CLINICAL
FEATURES
·
Recurrent
chest infections
·
Exertional
dyspnoea
·
Poor
Weight gain
·
CCF
DIAGNOSIS
·
Chest
X-ray
·
ECg
·
Two-dimensional
echocardiogram
·
Doppler
study
MANAGEMENT
·
Medical
management
·
No
medical management
Surgical
Management
Surgery
is done as one – stage or two – stage operation. One stage operation with patch closure of VSD
by open heart method can be performed.
Two stage approach is done with first stage, to band the pulmonary
artery to restrict pulmonary flow by closed-heart method. Second stage operation is done to patch close
the VSD and remove the PA band.
Nursing management
·
Long
term follow up
·
Monitoring
of ventricular functions
COMPLICATION
·
Infective
endocarditis
·
Pulmonary
hypertension
·
CCF
ATRIAL
SEPTAL DEFECT
Atrial
septal defect is an abnormal opening between right and left atria resulting
left to right shunting of blood.
CLINICAL
FEATURES
·
Recurrent
chest infection
·
Exestional
dyspnoea
·
CCF
·
Poor
Weight gain
DIAGNOSTIC
EVALUATION
·
Chest
X-ray
·
ECG
·
Two-dimensional
echocardiogram
·
Doppler
study
Surgical
management
Repair
of the defect is done by suture closure or pericardial patch repair by open
heart surgery.
COMPLICATON
·
Infective
endocarditis
·
CCF
·
Pulmonary
artrial hypertension
PATENT
DUCTUS ARTERIOSUS
It
is the persistent vascular connection between the pulmonary artery and aorta.
CLINICAL
FEATURES
·
Tachyponea
·
Dysponea
·
Respiratory
infections
·
CCF
·
Feeding
difficulties
DIAGNOSIS
·
Auscultation
·
Chest
X-ray
·
Doppler
study
·
Cardiac
Cetheterisation
MANAGEMENT
Medical
Management
·
Indomethacin
·
Antiprostaglandin
Agent
·
Aspirin
·
Mefanemic
acid
Surgical
Management
·
Lateral
Thoracotomy
Complication
·
CCF
·
Infective
Endocarditis
·
Pulmonary
hypertension
TETRALOGY
OF FALLOT
The
condition is characterized by four defect
·
Pulmonary
stenosis
·
Ventricular
septal defect
·
Over
riding or transposition of aorta
·
Right
ventricular hypertrophy
MANAGMENT
·
Antibiotic
therapy
·
Oxygen
should be administered
·
Surgical
management includes palliative surgery or definitive correction in one stage
repair.
CENTRAL
NERVOUS SYSTEM ABNORMALITIES
ANENCEPHALY
Anencephaly
is a congenital absence of cranial vault with the cerebral hemisphere
completely missing or reduced to small masses.
This condition is incompatible with life, death usually occurs with a
week or two of birth.
SPIRNAL
BIFIDA APERTA
Spine
bifida aperta results from failure of fusion of the vertebral column. There is no skin covering the defect, which
allows protrusion of the meaninges hence the term meningocele. Meningomyelocele does involve the spinal
cord. When the defect is at base of
skull level. It is known as encephalocele.
CLINICAL
FEATURES
·
Neural
damage
·
Paralysis
·
Impaired
functions of urinary bladder
MANAGEMENT
·
Immediate
management involves covering open lesion with a non – adherent dressing.
·
Surgery
should be done for the closure.
HYDROCEPHALUS
Hydrocephalus
is the abnormal accumulation of cerebrospinal fluid in the intracranial spaces.
Etiology
Hydrocephalus
may occur due to congenital or acquired causes.
Congenital
hydrocephalus
·
Intra
uterine infections
·
Intracranial
hemorrhage
·
Congenital
malformations
Acquired
Hydrocephalus
·
Inflammation
·
Trauma
·
Chemical
– Hyper vitaminosis – A
CLINICAL
FEATURES
·
Excessive
enlargement of the head
·
Delayed
closure of anterior fontanel
·
Urinary
incontinence
·
Ataxia
DIAGNOSTIC
EVLAUATION
·
MRI
·
CT
scan
·
Cranial
ultrasonography
·
X-ray
skull
MANAGEMENT
Medical
management
·
Carbonic
analydrase inhibitor
·
Acetazolamide
Surgical
management
·
Ventriculostomy
·
Choroid
Plexectomy
Nursing
Management
·
Provide
adequate nutrition by exclusive breast feeding to the neonates and infants.
·
Reduce
parentral anxiety.
·
Preventing
infections by aseptic techniques.
·
Maintain
fluid balance by IV fluid therapy, intake output chart etc.
COMPLICATION
·
Seizures
·
Neurological
deficits
·
Developmental
delay
MICROCEPHALY
This
is where the occipito frontal circumference is more than two standard
deviations below normal for gestational age.
This disproportionately small head may be the result of intrauterine
infection (eg., rubella), a features of fetal alcohol syndrome.
MUSCULOSKELETAL
DEFORMITIES
POLYDUCTYLY
AND SYNDACTYLY
Syndactyly (webbing) more commonly affects the
hands. It is a genetially inherited condition
in which there is premature fusion of the suture of the vault of the skull,
cleft plate and complete syndactyly of both hands and feets. It can occur as an independent or as a
features of syndrome.
In
polydactyly the extra digit may be fully formed or simply extra tissue attached
by a pedicle. This can be surgically excised.
TALIPES
Congenital
club foot is a non-traumatic deformity of the foot. The foot is twisted out of shape or position.
ETIOLOGY
·
Unknown
cause contributing factors are
·
Familial
tendancy
·
Intra
uterine malposition of fetal foot.
·
Defective
neuromuscular development of fetus.
DIAGNOSTIC
EVALUATION
·
The
defect is obvious at birth and detected during first neonatal examination.
·
X-ray
of the affected foot helps to detect bony abnormality.
MANAGEMENT
·
Management
should be started as early as possible with the standard foot wear, may be in
the first week of life.
·
Initial
non-operative management is done by serial manipulation followed by
immobilization in a plaster cast or adhesive tape or strapping or splinting.
SURGICAL
MANAGEMENT
·
Tenotomy
Nursing
management
·
Educate
the parents about correct use of shoes, brace, care of cast, skin care and
regular follow up.
·
Teach
the mother about the exercise of the baby’s foot.
GENITOURINARY
SYSTEM ABNORMALITIES
HYPOSPADIASIS
Hypospadiasis
is the congenital abnormal urethral opening on the ventral aspects of the
penis.
MANAGEMENT
·
Meatotomy
is done at any age after birth.
·
Urethroplasty
is done 3 to 4 months after chordee correction.
EPISPADIASIS
Epispadiasis
is the congenital abnormal urethral opening on the dorsal aspect of the penis.
MANAGEMENT
·
Management
is done by surgical correction in three stages.
·
Provide
emotional support
·
Health
maintenance and promotion of growth and development should be emphasized by
balanced diet, immunization, hygienic measures and parentral guidance.
CONCLUSION
Congenital
abnormality is any defect in form, structure or function. Improved prenatal screening and diagnostic
techniques are now available for detection of abnormalities in early
pregnancy. The aim is to allow the woman
and her spouse to make a unified decision regarding future management of pregnancy.
BIBLIOGRAPH
1.
Parul
Datta, Pediatric Nursing, Pg.No.356, 399.
2.
D.C.Dutta,
Text Book of Obstetrics, 6th Edition, Page No.492-497.
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