Congenital malformalities

 

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 5^th – 12^th 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, 6^th Edition, Page No.492-497.