Congenital Anomalies Overview

Congenital Anomalies

• Defects present at birth caused by genetic or environmental factors.
• 2-3% of live births.
• Leading cause of infant deaths under 1 year of age.
• No identifiable cause in 50% of congenital defects.
• Cardiac most common congenital anomaly.

Central Nervous System Anomalies

• Encephalocele: Herniation of the brain and meninges, usually found in the occipital area of the skull.
  • Often found with other congenital anomalies like cardiac, cleft lip/palate, microencephaly.
  • Treatment is surgery with shunt placement for excess cerebral spinal fluid (CSF) removal.
• Anencephaly: Absence of both cerebral hemispheres and the overlying skull.
  • Most severe neural tube defect.
  • Many still born, incompatible with life.
  • Palliative care and family support critical.

Respiratory System Anomalies

• Congenital Diaphragmatic Hernia: The intestine is in the chest cavity, compressing the lungs.
  • Barrel chest and scaphoid abdomen.
  • Asymmetric chest expansion.
  • Respiratory distress, displaced heart sounds, spasmodic cyanosis, difficulty feeding.
  • Bowel sounds heard in the thoracic cavity.
• Nursing Interventions: Maintenance of adequate respiratory status, gastric decompression, high semi-Fowler’s position, turning to the affected side, parental involvement.
• Choanal Atresia: Most common nasal congenital anomaly. Posterior nares blocked by membrane or bone, preventing air intake.
  • Cyanosis and retractions at rest, color improves with crying.
  • Noisy respirations, difficulty breathing during feeding, copious mucous.
• Nursing Interventions: Passing a feeding tube to confirm diagnosis, inserting oral airway, keeping infant prone to prevent aspiration.

Gastrointestinal System Anomalies

• Omphalocele: Herniated abdominal contents contained in the peritoneal sac.
  • Intestines only or contain liver and spleen.
  • May be associated with other congenital anomalies (cardiac) or chromosomal conditions (trisomy).
  • Risk factors: young/advanced maternal age, obesity, use of SSRIs, alcohol, or tobacco.
• Gastroschisis: Herniation of bowel through abdominal wall defect.
  • NOT usually associated with other congenital anomalies.
  • Risk factors: maternal age less than 20 y/o, low maternal weight, IUGR, tobacco, drug use, genitourinary infections, exposure to agricultural chemicals.
• Nursing Interventions: Covering with saline-soaked gauze and plastic wrap to avoid insensible water loss, thermoregulation, decompressing gut with orogastric tube, monitoring perfusion and positioning on the side to prevent bowel torsion.
• GI Obstruction: Obstructions can occur anywhere in the GI tract.
  • Symptoms: bilious emesis, abdominal distention, failure to pass meconium, respiratory distress (high obstruction).
• Nursing Interventions: Holding feeds, placing an orogastric tube with suction, immediate surgical intervention (bowel resection, ostomy).

Genitourinary System Anomalies

• Exstrophy of the Bladder: Bladder is exposed and outside.
  • Most common bladder anomaly, males 2x more than females.
  • Epispadias often concurrent.
  • Immediate cover with sterile gauze soaked in normal saline.
  • Surgical closure of the bladder within 48 hours after birth.
  • Staged surgical repairs before school age

Most Important Intervention for Congenital Anomalies

• Parental and family support: Families in crisis when they first see their newborn, deformities are emotionally traumatic.
  • Parents blame themselves, experience grief and loss.
  • Individuals deal with grief and loss uniquely.

Nursing Theory to Support Families

• Caring Theory: Knowing (understand the loss for the family), being with (caring presence and acceptance), doing for (providing care for mother and family), enabling (providing information and guidance), maintaining belief (encourage ability to overcome the loss).