Congenital disorders

• Learning Outcomes

  • Describe the pathophysiology, etiology and general concepts of congenital disorders
  • Discuss risk factors that increase the incidence and prevalence for congenital disorders
  • Describe key signs and symptoms of congenital disorders
  • Plan nursing care for patients with congenital disorders
  • Explain treatments and interventions for patients with these congenital disorders: Spina Bifida, Patent Ductus Arteriosus, Tetralogy of Fallot, Cleft Lip and Cleft Palate, Down Syndrome, Cystic Fibrosis, Hirschsprung Disease
• Congenital Disorders

  • Spina Bifida
  • Patent Ductus Arteriosus
  • Tetralogy of Fallot
  • Cleft Lip and Cleft Palate
  • Down Syndrome
  • Cystic Fibrosis
  • Hirschsprung Disease
• Spina Bifida


  Types, Risk Factors, Diagnosis
• Types of Spina Bifida


  • Occulta
  • Cystica: Meningocele, Myelomeningocele
• Risk factors for Spina Bifida

  • Lack of folic acid
  • Family history
  • Obesity
  • Maternal diabetes
• Diagnosis of Spina Bifida

  1. AFP + ultrasound

  2. MRI

  3. CT scan

  4. Physical assessment
• Signs and Symptoms of Spina Bifida

  1. Tuft of hair or birthmark (occulta)

  2. Visual presentation of sac on infant's back

  3. Leg weakness

  4. Curved spine

  5. Seizures

  6. Bowel and bladder problems
• Complications of Spina Bifida

  1. Traumatic birth and difficult delivery of baby

  2. Increased intracranial pressure

  3. Loss of bowel or bladder control

  4. Orthopedic issues

  5. Latex allergy
• Interventions and Treatment for Spina Bifida

  1. Surgery in utero or post-birth

  2. Pre-op care

  3. Post-op care

  4. Manage complications

  5. Work with multidisciplinary team

  6. Supportive devices for ambulation or mobility
• Development of the Cardiovascular System

  Right atrium and ventricle circulate deoxygenated blood to the lungs, oxygenated blood cycles to the left atrium and ventricles to be pumped to the rest of the body
• Fetal Cardiac Structures

  • Ductus Arteriosus
  • Foremen Ovale
  • Ductus Venosus
• Acyanotic Cardiac Disorders

  • Patent ductus arteriosus (PDA)
  • Ventricular septal defect (VSD)
  • Atrial septal defect (ASD)
  • Coarctation of the aorta
• Patent Ductus Arteriosus occurs when the fetal shunt between the pulmonary artery and aorta does not close, causing increased blood flow to the lungs. Risk factors include premature birth, Down syndrome, and maternal exposure to rubella during pregnancy
• Signs and Symptoms of Patent Ductus Arteriosus

  1. Often none

  2. Machine-like systolic murmur

  3. Wide pulse pressure

  4. Bounding pulses

  5. Tires easily

  6. Shortness of breath and rapid breathing

  7. Not feeding well
• Diagnosis and Treatment of Patent Ductus Arteriosus

  1. Diagnosis: Echocardiogram, Cardiac cath

  2. Treatment: Spontaneous closure, Medication, Feedings, Surgery
• Cyanotic Cardiac Disorders

  • Tetralogy of Fallot (TOF)
  • Transposition of the great arteries (TGA)
• Signs of Hypoperfusion in Children

  1. Prolonged capillary refill time >3 seconds

  2. Weak or absent pulses

  3. Pale or cyanotic skin color

  4. Decreased mental status

  5. Cool extremities

  6. Tachycardia

  7. Hypotension
• Signs and Symptoms of Tetralogy of Fallot (TOF)

  1. Feeding difficulty, poor weight gain

  2. Slowed growth and development

  3. Dyspnea, fatigue

  4. TET spell
• TET Spells (hypercyanotic spells) in Tetralogy of Fallot (TOF)

  1. Episodic central cyanosis

  2. Sudden restlessness, gasping, increased cyanosis

  3. Loss of consciousness, convulsions
• Treatment of Tetralogy of Fallot (TOF)

  Surgical closure of defects, usually done by the age of 2
• Cleft Lip and Cleft Palate

  • Cleft lip, Cleft palate
• Positioning knees to chest

  Increase venous return
• Tetralogy of Fallot (TOF) treatment

  Surgical closure of defects
• Tetralogy of Fallot (TOF) treatment is usually done by the age of 2
• Risk Factors for Cleft Lip and Cleft Palate

  • Genetic
  • Family history
  • Exposures
  • Folate deficiency
• Cleft lip is an incomplete fusion of the oral cavity during intrauterine life
• Cleft palate is an incomplete fusion of the palates during intrauterine life
• Cleft lip and cleft palate can occur together or each defect can occur alone
• Deficits of cleft lip and cleft palate can be unilateral or bilateral
• Common symptoms of cleft lip include a notch or up to the nose
• Common symptoms of cleft palate include a small opening or the whole palate affected
• Cleft palate occurs with cleft lip in 50% of cases
• Cleft palate is more serious than cleft lip
• Complications of cleft lip and cleft palate include nasal deformity and dental disorders
• Medical treatment for Cleft Lip and Cleft Palate

  Surgery and care, collaborative teams, speech therapy, dental treatment
• Nursing Care for Cleft Lip and Cleft Palate

  Pre-operative assessment, nutritional needs, family coping and care, post-operative care including airway risk, dehydration, pain, infection, risk for delayed growth, family knowledge, family teaching
• Down Syndrome is the most common chromosomal abnormality
• Down Syndrome is also known as Trisomy 21
• Risk Factors for Down Syndrome


  • Maternal age greater than 35 years
• Diagnostic Tests for Down Syndrome

  • Blood tests, amniocentesis, chorionic villus sampling, ultrasound