Chapter 14-Newborn with a Perinatal Injury/Congenital Malformation

The Newborn with a Perinatal Injury or Congenital Malformation

Chapter 14

Birth Defects

Abnormalities that are apparent at birth The abnormality may be of

• Structure
• Function
• Metabolism

May result in a physical or mental disability, may shorten life, or may be fatal

Classifications of Birth Defects

• Malformations present at birth
• May also be known as congenital malformations
• Inborn errors of metabolism
• Disorders of the blood
• Chromosomal abnormalities
• Perinatal injuries

Malformations Present at Birth: Nervous System

Neural tube defects Most often caused by failure of neural tube to close at either the cranial or the caudal end of the spinal cord

• Hydrocephalus
• Spina bifida

Symptoms of Increasing Intracranial Pressure

• Increased blood pressure
• Decrease in pulse rate
• Decrease in respirations
• High-pitched cry
• Unequal pupil size or response to light
• Bulging fontanelles in infants
• Headaches in children due to closed cranial sutures
• Irritability or lethargy
• Vomiting
• Poor feeding

• Characterized by an increase in cerebrospinal fluid (CSF) within the ventricles of the brain
• Causes pressure changes in the brain
• Increase in head size
• Results from an imbalance between production and absorption of CSF or improper formation of ventricles.

Most commonly acquired by:

• An obstruction
• A sequelae of infection
• Perinatal hemorrhage

Symptoms depend on:

• Site of obstruction
• Age at which it develops

Classifications

• Noncommunicating
• Obstruction of CSF flow from the ventricles of the brain to the subarachnoid space
• Communicating
• CSF is not obstructed in the ventricles but is inadequately reabsorbed in the subarachnoid space

Hydrocephalus

Diagnosis and Treatment of Hydrocephalus

Manifestations

Treatment

Diagnosis

Ventriculoperitoneal Shunt

Depends on time of onset and severity of imbalance

• Classic signs
• Increase in size of head
• Cranial sutures separate to accommodate enlarging mass
• Scalp is shiny
• Veins are dilated

• Medications to reduce production of CSF
• Surgery to place a shunt

• Medications to reduce CSF production
• Surgery
• Shunt acts as a focal spot for infection and may need to be removed if infections persist

Transillumination

• Echoencephalography
• CT scan
• MRI
• Ventricular tap or puncture

Preoperative and Postoperative Nursing Care

Parent Education

• Preoperative
• Frequent head position changes to prevent skin breakdown; head must be supported
• Head must be supported at all times while being fed.
• Measure head circumference along with other vital signs.
• Postoperative
• Assess for signs of increased intracranial pressure.
• Protect from infection.
• Depress shunt “pump” as ordered by surgeon.
• Position dependent on multiple factors.
• Assess and provide for pain control.

• Teach signs that indicate shunt malfunction may be occurring.
• How to “pump” the shunt (pressing a valve behind the ear)
• Signs of shunt malfunction in an older child can include
• Headache
• Lethargy
• Changes in LOC

Prevention & Treatment of Spina Bifida

1. Surgical closure
2. Prognosis is dependent on the extent of spinal cord involvement

Habilitation

• Patient is disabled from birth
• Aim is to minimize the child’s disability
• Constructively use all unaffected parts of the body
• Effort is made to help the child develop a healthy personality so that he or she may experience a happy & productive life

Mother takes folic acid 0.4 mg per day before becoming pregnant or continues to take the folic acid supplement until the 12th week of pregnancy.

Pre and Postoperative Care of Spina Bifida

• Prevention of infection of, or injury to the sac
• Correct positioning to prevent pressure on the sac
• Prevent development of contractures
• Good skin care (particularly w/ incontinence)
• Adequate nutrition
• Education of parents
• Accurate observations & charting
• Areas of close observation: Size of sac and any leakage, extremities for deformities & movement, head circumference, fontantelles, anal sphincter control

• Neurological assessment & prevention of infection
• Status of the fontanelles & any signs of increased ICP (irritability or vomiting)
• Urological monitoring is essential
• Skin care can be challenging
• Feeding challenges
• Many spinda bifida infants develop a latex allergy
• Helping to establish parent-infant relationship

Nutrition

1. Diet is progressively advanced.
2. No food through straws to prevent sucking
3. Oral hygiene
4. Follow each feeding with clear water to cleanse the mouth.
5. Speech
6. Encourage children to pronounce words correctly

Diversion

• Crying should be avoided whenever possible; play should be of the quiet type (e.g., coloring, drawing, reading to the child).

Complications Ear infections and tooth decay

1. Preventing infant from sucking and crying
2. Careful positioning to avoid injury to operative site
3. Preventing infection and scarring by gentle cleansing of suture lines to prevent crusts from forming
4. Providing for the infant’s emotional needs by cuddling and other forms of affection
5. Providing appropriate pain relief measures

Cleft Lip

Cleft Palate

• Characterized by a fissure or opening in the upper lip
• Failure of maxillary and median nasal processes to unite during embryonic development
• Many cases are hereditary; others are environmental
• Appears to occur more often in boys than girls

Initial repair of cleft lip is known as cheiloplasty

• Repair by 3 months of age
• Infant may have to have elbow restraints to prevent the infant from scratching the lip
• A special syringe or bottle may be needed to assist in feeding the child until surgery has occurred

• The failure of the hard palates to fuse at the midline during the 7th to 12th weeks of gestation.
• Forms a passageway between the nasopharynx and the nose
• Increases risk of infections of the respiratory tract and middle ears

Goals of therapy

• Union of the cleft
• Improved feeding
• Improved speech
• Improved dental development
• The nurturing of a positive self-image

Clubfoot

Most common deformitiesCongenital anomaly

• Foot twists inward or outward.

Talipes equinovarus is the most common type.

• Feet turned inward
• Child walks on toes and outer borders of feet
• Generally involves both feet

Parent Education

Treatment & Nursing Care

• Stress importance of complying with physician orders to prevent skin breakdown and possible isolation of the older child.
• The nurse should review with the parents
• Cast care
• Emotional support

Started as soon as possible or bones and muscles will continue to develop in an abnormal manner Conservative treatment Splinting or casting to hold foot in correct position Passive stretching exercises If not effective after about 3 months, surgical intervention may be indicated.

Treatment

Hip Dyplasia

• Hip dysplasia applies to various degrees of deformities, subluxation or dislocation (can be partial or complete).
• Head of femur is partly or completely displaced
• Seven times more common in girls
• More apparent as infant or toddler begins walking
• When prone, buttocks are asymmetrical
• Legs are unequal in length
• May not kick both legs
• Folds on thighs should be symmetrical

• Hips are maintained in constant flexion and abduction for 4 to 8 weeks
• Keeps head of femur within the hip socket
• Constant pressure enlarges and deepens acetabulum
• Can use a Pavlik harness to provide the necessary positioning
• Surgical intervention may be necessary
• Observe extremities and skin distal to the cast q 30 min for the first few hours and q 1-4h after
• Assess for pallor, cyanosis, swelling, coldness, numbness, pain or burning
• Circle any drainage on the cast
• Educate parents

Diagnostics

Barlow test: upon adduction and extension of the hips (with health care provider providing stabilization to the pelvis), may “feel” the dislocation actually occur Ortolani sign (or click): health care provider can actually feel and hear the femoral head slip back into the acetabulum under gentle pressure

Phenylketonuria (PKU)

Treatment:

• Close dietary management and blood phenylalanine level evaluation
• Because it's found in all natural protein foods, a food that provides protein for tissue repair and growth may be substituted
• Breastmilk is low in phenylalanine and can be given with a special formula
• Solid foods LOW in phenyl given when solids are introduced and child should be phenyl-FREE btw ages 3-8

Education, education, education!!!

A genetic disorder is considered an inborn error of metabolism. Caused by a faulty metabolism of phenylalanine, an amino acid essential to life. The enzyme needed to convert it is missing and it builds up in the blood.Results in severe cognitive delay in early infancy. By the time urine test is positive, damage is done. Evident around 4-6 months. May have Failure to Thrive, Eczema, an odd musty odor, or personality disorders. 1/3 have seizures. Most common in blond and blue-eyed children.

Down Syndrome

Counseling parents-It is appropriate to express one's feelings of initial helplessness, and may encourage parents to do so.Listen and provide honest, tactful, and compassionate support Empathy cannot be overstated! Pamper the baby! Counseling siblings-Connect the family with a support group or other parents of children with Downs

Erythroblastosis Fetalis

Causes and Treatment

Caused when an Rh-negative mother and Rh-positive father produce an Rh-positive fetus. Antibodies are produced that cross the placenta and destroy the blood cells of the fetus. If large numbers of antibodies are present, the baby becomes anemic. The direct Coombs test detects these antibodies. Anemia and jaundice may present. This jaudice is called pathological jaundice. Enlargement of spleen and live with progressive edema may occur. Bilirubin levels of 20 mg/dL and seizures are signs of bilirubin toxcitiy. Kernicterus is an accumulation of bilirubin in the brain and may cause permanent damange/disability.

Phototherapy

• Protect the eyes from light (baby and nurse)
• Put on smallest diaper possible
• Turn infant frequently
• Close monitoring of hydration
• Assessing jaundice levels
• Therapy may be done at home with lower levels of bilirubin
• Exchange transfusion may be necessary

Neonatal Abstinence Syndrome

Macrosomia

• Close monitoring of VS, early feeding, and frequent BS assessment
• Watch closely for irritability, tremors, and RDS

• Body tremors and hyperirritability are principal signs
• Wakefulness, diarrhea, poor feeding, sneezing, and yawning may also be present
• Provide quiet environment, swaddling, reduce external stimuli, close observation for seizures