Choanal atresia is a congenital blockage of the posterior nares by a bony or soft-tissue obstruction, either bilaterally or unilaterally. 

• Infant becomes cyanotic at rest

• Nasal discharge is present

• Snorting respirations are often observed

Most congenital anomalies of the CNS result from defects in closure of the neural tube during fetal development. Maternal folic acid deficiency has a direct bearing on failure of the neural tube to close.

Esophageal atresia (EA) occurs when the esophagus ends in a blind pouch, thus failing to form a continuous passageway to the stomach.

A tracheoesophageal fistula (TEF) is an abnormal connection between the esophagus and the trachea.

There are four types of EA/TEF (A, B, C, and D), classified based on:

• Presence or absence of a TEF

• Site of the fistula

• Location and degree of the esophageal obstruction

At birth, the clinical presentation depends on the type of anomaly present. Presentations may include:

• Excessive oral secretions

• Drooling

• Feeding intolerance

• Inability to pass a feeding tube

• When fed, the infant swallows but then coughs and gags and returns the fluid through the nose and mouth

• Respiratory distress resulting from aspiration or acute gastric distention

• Choking

• Coughing

• Cyanosis

Nursing interventions for EA and TEF are supportive until surgery has been performed. The timing and type of surgical intervention depend on the specific type of defect. Surgical correction is usually done within 1 week of birth.

Congenital intestinal obstruction can occur anywhere in the GI tract:

• Atresia is a complete obliteration of the passage (here, the GI tract).

• In partial obstruction, symptoms can vary in severity and sometimes are not detected in the neonatal period.

• Malrotation of the intestine leads to twisting of the intestine (volvulus) and obstruction.

• Meconium ileus is an obstruction caused by impacted, inspissated meconium in the distal ileum.

GI obstruction may be suspected prenatally when polyhydramnios is present. Postnatally, the common symptoms of neonatal intestinal obstruction include:

• Bilious (green-colored) emesis

• Abdominal distention

• Failure to pass normal amounts of meconium in the first 48 hours

If an obstruction is suspected:

• Oral feedings are withheld.

• Orogastric tube is placed to low intermittent wall suction.

• Intravenous therapy is initiated to provide needed fluid and electrolytes.

Developmental dysplasia of the Hip (DDH) is a spectrum of disorders related to abnormal development of one or all of the components of the hip joint, which can develop at any time during fetal life, infancy, or childhood. It includes a variety of hip abnormalities in which there is an abnormal acetabulum and femoral head with mechanical instability of the hip. There are three degrees of DDH:

• Acetabular dysplasia is the mildest form of DDH, where there is neither subluxation or dislocation.

• Subluxation is the incomplete dislocation of the hip and is sometimes regarded as an intermediate state in the development from primary dysplasia to complete dislocation.

• Dislocation occurs when the femoral head loses contact with the acetabulum and is displaced posteriorly and superiorly over the fibrocartilaginous rim.

DDH is often not detected at the initial examination after birth.

DDH Treatment

• Treatment begins as soon as the condition is recognized.

• Treatment varies with the age of the infant and the extent of the dysplasia.

• The goal of treatment is to:

  • Obtain and maintain a safe, congruent position of the hip joint.

  • Promote normal hip joint development and ambulation.

• The hip joint is maintained by dynamic splinting in a safe position with the proximal femur centered in the acetabulum in an attitude of flexion and abduction.

• A Pavlik harness is the most widely used splinting method, and with time, motion, and gravity, the hip works into a more abducted, reduced position.

• The harness is worn continually until the hip is proved stable on clinical and radiographic examination, typically around 6 to 12 weeks.

Inborn errors of metabolism (IEMs) are biochemical genetic disorders that result from defects in single genes; the majority are inherited as autosomal recessive conditions.

• Initial testing consists of a broad range of blood and urine tests that are not diagnostic for IEMs but instead serve as screening measures.

• Further testing is required to confirm the diagnosis of an IEM-biochemical studies for specific IEMs should be performed.

• Supportive care includes correction of volume and electrolyte imbalances, hypoglycemia, and metabolic acidosis.

Phenylketonuria (PKU) is an autosomal recessive amino acid disorder that results from a deficiency of the enzyme phenylalanine dehydrogenase.

• Treatment for PKU includes a diet low in protein plus the addition of a special amino acid–containing formula that does not contain phenylalanine.

• Breastfeeding may be allowed in conjunction with phenylalanine-free formula.

• Lack of treatment for PKU results in profound intellectual disability.

Galactosemia is an autosomal recessive disorder caused by a deficiency of the enzyme galactose 1-phosphate uridyl transferase (GALT), resulting in the inability to convert galactose to glucose. Symptoms include:

• Vomiting

• Diarrhea

• Hypoglycemia

• Weight loss

• Persistent jaundice

• CNS symptoms (poor feeding, drowsiness, and seizures)

If the disorder goes untreated, galactose levels continue to increase, and the affected infant shows:

• Failure to thrive

• Developmental delay

• Cataracts

• Jaundice

• Hepatomegaly

• Cirrhosis of the liver

• Death possibly occurring in the first month of life

Congenital hypothyroidism (CH) results from a deficiency of thyroid hormones. The deficiency can be permanent (requiring treatment for life) or transient (resolving spontaneously).  Once identified, treatment is started immediately using oral levothyroxine (L-T4) as a thyroid replacement with close follow-up to monitor serum TSH and T4 levels.

The majority of neonates with CH appear normal at birth, although some may exhibit signs of the disorder:

• Hypotonia

• Large fontanel

• Poor feeding

• Macroglossia

Interventions

Newborn Care

The health care team must be highly skilled to meet the needs of these high-risk infants. Nurses are instrumental in:

• Stabilizing the infant (oxygenation and perfusion of tissues)

• Performing preoperative interventions

• Attending to thermoregulation and pain management

• Maintaining fluid and electrolyte balance

• Providing support and education for the family

Parents and Family Support

The nurse must carefully assess the parents' and family's reactions and facilitate their understanding of the information given them about their infant’s condition.