Prenatal Assessment

Fetal Assessment

Newborn Assessment

Congenital Assessment
Neonatal Growth and Maturity
Course Exam

CONGENITAL ANOMALIES


LIFE-THREATENING ANOMALIES

This section will present the major anomalies which can have a serious effect upon the newborn.  When we discuss assessment of these conditions, we will concentrate our efforts on the assessment process itself and the role of the nurse.

Congenital Heart Defects:

Malformation of the heart and blood vessels account for approximately 8 per 1,000 births, at this time.  Infants may have one or several of these anomalies, resulting from improper closure of heart and blood vessel structures.  There are many types of these anomalies, but we will concentrate on presenting the major ones only.

Each of the following anomalies can cause severe circulatory problems in the newborn.  The defects are classified according to their hemodynamic effects upon the infant.  Some defects cause cyanosis and some do not.  Some defects cause increased or decreased pulmonary blood flow.  Still other defects cause a combination of problems, so they will be classified differently from the others.

Acyanotic disorders:

  1. Patent ductus arteriosis—blood flows into pulmonary artery instead of the aorta.

  2. Ventricular septal defect—shunts blood from left to the right ventricle.

  3. Artial septal defect—left to right shunting of blood.

  4. Endocardial cushion defect—causes shunting of blood from left to right atrium.

Obstructive Disorders:

  1.  Aortic stebosis—increased pressure load on left ventricle.

  2.  Coarctation  of the aorta—obstructs flow through the aorta.

  3.  Pulmonary valvular stenosis—increased pressure load on right ventricle.

Admixture Disorders: (cycanosis is usually present)

  1. Complete transposition of the great vessels—unoxygenated blood flows to the body
    and oxygenated blood flows back to the lungs.

  2. Truncus arteriosis—one common arterial vessel, cannot supply sufficient blood to the systemic and pulmonary circulation.

  3. Anomalous venous connection of the pulmonary veins—abnormal transfer of blood to the right side of the heart via the pulmonary veins.

  4. Tetralogy of fallout—four major defects.

  5. Tricuspid atresia—obstruction of flow from right atrium to right ventricle.

ASSESSMENT OF THE NEWBORN WITH A CONGENITAL DEFECT (S)

  1. Cry
    Weak and muffled or load and breathless

  2. Color     
    1. cyanotic—usually generalized, increases in the supine position, usually deepens with crying, usually not improved with oxygen administration
    2. acyanotic—pale, may be mottling with exertion

  3. Activity Level
    Restless, lethargic, unresponsive except to pain, lack of movements when crying

  4. Posturing
    Flaccid muscles, hyperextension of neck, opisthotonos, dyspnea when supine, knee-chest position is favored.

  5. Cardiac
    Persistent bradycardia or tachycardia

  6. Respirations
    (counted when infant is sleeping) tachypnea, retractions with nasal flaring, dyspnea with diaphoresis, gasping or grunting.

  7. Feeding
    Anorexia, poor sucking, difficulty coordinating the sucking, swallowing and breathing (pulls away from nipple to take a breath), slow feeding with frequent rest pauses, unable to feed by nipple.
This is a guide to nursing assessment.  Each nurse will observe each of the above common objective findings for the assessment process.  Most of the cyanotic disorders are easy to observe, and usually are treated immediately by the physician.  The nurse must always be alert for the above signs or symptoms for detecting the less obvious anomalies.

Early diagnosis can be made with the help of observation by the nurse of these and other abnormal signs and symptoms.  Prognosis for these conditions is better with early diagnosis.  Again, always follow hospital protocol if you suspect these conditions in the newborn; report negative findings quickly.

NEURAL TUBE MALFORMATION

The closure of the neural tube, the precursor to the brain and spinal cord, occurs at about the fourth week of gestation.  If incomplete closure happens, a variety of different disorders may occur.  The following disorders are a result of incomplete closure at various points along the neural tube.

  1.  Spina Bifida
    1. spina bifida occulta—in the lumbosacral region, with incomplete fusion of arch (es) of the posterior spine
    2. spina bifida cystica—cystic lesion forming in the spinal column

  2. Meningomyelocele
    Is a sac-like herniation of the meninges, through a herniation defect in column (part of cord protrudes into sac)

  3.  Meningocele
    Is a protrusion through the spina bifida that does not contain central nervous tissue (no cord protrusion)

This is an overview of the conditions of the spine.  When the nurse assesses these conditions, most will be highly visible and obvious.  However, there are some cases of spina bifida which are not as readily apparent.  The nurse must carefully assess these conditions.  Assessment includes:

  1.  Careful recording of lesion; size, color, shape, texture, and any other characteristics (very gently palpate if allowed)

  2. Assess neurological involvement; paralysis, flaccidity, spasticity, sphincter control, leakage of spinal fluid

  3. Assess for infection; temperature, redness, etc.

  4. Assess for associated problems; hydrocephalus (check head circumference daily); club foot

The prognosis of the infant depends upon the extent of involvement of the central nervous system.  If there is extensive brain involvement, the prognosis is usually poor.  If there is minimal or no brain or spinal involvement, the prognosis is usually good.  The nursing care involves positioning the newborn carefully, to avoid pressure on the lesion.  Also the nurse should use sterile towels to help prevent infection of the area.  The nurse will also be careful when holding and bathing the infant.  Teaching is also important, for the parents of this newborn, there will be many concerns.  Have them discuss the treatment method (s) with the physician, as there is a great deal of controversy regarding the different treatments available.

DIAPHRAGMATIC HERNIA

This condition is an incomplete development of the diaphragm that allows displacement of abdominal organs into the thoracic cavity.  This defect can be minimal, in which case, the repair is easily made.  However, the defect can also be major in some cases.  In the latter case, the hernia can cause severe respiratory distress, due to compression of the lung tissue.  This compression can actually interfere with the normal development of the lungs, causing hypoplasia.  Assessment of the infant may be difficult.  In mild conditions, the infant could be asymptomatic.  In very severe cases, the infant may need resuscitation due to the total absence of respiration at birth.  In this case, the exact cause of difficulty may not be known until later X-rays confirm the diagnosis.

The nurse will assess for:

  • any respiratory distress
  • large or asymmetric chest contour
  • dullness to percussion on the affected side
  • bowel sounds are heard in the thoracic cavity
  • breath sounds are diminished
  • shift of heart to side opposite hernia
  • scaphoid (hollowed or boat-like) abdomen
  • X-rays confirm presence of intestines in the thorax, as well as mediastinal displacement

The prognosis is usually quite good if detected before severe respiratory difficulty develops.  The nursing management includes careful observations and positioning of the infant for best possible breathing.  Severe cases need ICU support.

CHOANAL ATRESIA

This condition is a congenital obstruction of the passage between the nose and the pharynx.  It may be partial or complete.  Newborns may get into trouble with this disorder, as they do not learn to breathe through the mouth until about 2 to 3 weeks after birth.  Therefore, if the obstruction is complete and bilateral, the infant rapidly becomes cyanotic after birth.

Assessment includes the following:

  1. maintaining an airway while assessing the infant
  2. observe for increasing dyspnea after birth
  3. observe for nasal discharge; often accompanies this disorder
  4. infant will attempt to mouth-breathe
  5. observe for abnormal respirations (snorting, retractions, etc.)
  6. feeding difficulty (in mild cases)

The infant with a mild case (smaller obstruction) may have few if any symptoms, the nurse should observe for any of the symptoms listed above when assessing the infant.  If this condition is suspected, there will be resistance when you try to gently pass a flexible catheter into the nose.  The prognosis is usually good if this condition is discovered early and there is no severe respiratory distress.  Many infants also have other anomalies when this one is present, so assess the infant carefully for any other hidden conditions.

ESOPHAGEAL, ATRESIA AND TRACHEOESOPHAGEAL FISTULA

Both of the above conditions may occur together or separately.  As you recall, atresia is a malformation which forms a blind pouch in the esophagus.  A fistula is a passage from the esophagus to the trachea.  An X-ray is the best way to diagnose the condition, but the nurse should assess for these:

  1. accumulation of oral secretions
  2. chocking or coughing episodes soon after feedings
  3. cyanosis after feeding
  4. abdominal distension after crying (fistula only)
  5. passage of flexible tube can be used to screen infants (done by experienced personnel only)

Today the condition is usually diagnosed soon after birth and treated surgically.  However, many of the infants with either of these conditions also may have other defects which complicate the treatment.  It is essential to assess and identify the conditions as soon as possible and start the treatment so as to prevent complications.  Do not feed the infant if these are suspected, until the problem has been corrected.

OMPHALOCELE AND GASTROSCHISIS

Omphalocele is a protrusion of the viscera through the abdominal wall, in the area of the umbilical cord.  Gastroschisis is similar, except the protruding viscera is in another location, usually the right side of the abdomen.

The nurse should assess for the large opening and protrusion of viscera, and usually it is quite obvious.  The nursing responsibilities include preventing further injury and sepsis.  The prognosis is usually quite good today, as long as intestinal functions can be re-established.  If other anomalies are also present, the prognosis may be guarded.

INTERSTINAL OBSTRUCTION AND IMPERFORATE  ANUS

These two conditions will obstruct the intestinal tract and usually must be corrected surgically.

Assess for:

  1. Intestinal Obstruction—abdominal distention, bile-stained or fecal vomiting
  2. Imperforate Anus—obstruction to inserting thermometer, be careful when inserting thermometer for first time

These conditions can usually be repaired surgically, depending upon the degree of obstruction and malformation.  In many cases, other anomalies also exist, further complicating the recovery.  Mortality for these conditions is about 10%, and usually is due to complications.


NON-LIFE THREATENING CONGENITAL ANOMALIES

CLEFT LIP AND CLEFT PALATE

These disorders may occur alone or may occur together.  Cleft lip is usually very apparent upon visual examination.  Cleft palate may require an experienced examiner.

Assessment includes:

  1. Inspection of the areas involved for any obvious deformity
  2. Regurgitation of fluids through the nose when feeding the infant

The prognosis is usually good when detected early.  Surgery to correct the problem is usually quite successful.  The nurse should take special care for the infant during the feeding, in order to prevent aspiration and infection.  If cleft lip alone is present, there is little danger of feeding problems.  It is usually only the cleft palate that causes the problems.  However, both conditions are often present together.  Be sure to address the emotional aspects of these disorders upon parents.  It is usually disturbing to them to see such deformities.

AMBIGUOUS GENITALIA

Careful examination of the genitalia is a part of the assessment process.  In some cases, the sex of the child is mistakenly given to the parents, and later is found to be the other sex.  The child may appear first, to be the sex that they are not.  This is due to congenital malformation of the external organs.

The assessment of the infant is just like any other assessment.  However, if you are in doubt as to sex of the infant, you should carefully describe and record appearance of external genitalia.  Actual determination of the sex of the infant may have to be determined by lab tests and other examinations.  In cases where organs are non-functional, and will affect adult life of the individual, expert counseling should be available to the medical team and to the parents.  There must be a decision made as to the rearing of the child, as male or female.  Plastic surgery is available to reconstruct the genitalia if necessary.

CHROMOSOMAL ABNORMALITIES

There are many different types of malformation possible do to abnormal chromosome numbers or positions.  Some abnormalities are easily recognized, such as Down’s syndrome.  Other problems are not so easily recognized.

The nurse should assess for these:

  1. Head
    Abnormal size or shape

  2. Eyes
    Too far apart, close together, long eyelashes, unusual size, and presence of colobomas

  3. Ears
    Abnormal length, no ear lobes, unusual shape, low-set beaked, upturned, bulbous, pinched, broad-bridged

  4. Nose
    Beaked, upturned, bulbous, pinched, broad-bridged

  5. Oral region
    Lip pits (depressions), serrated gingivae, shape of mouth

  6. Neck
    Short, webbed

  7. Skeleton
    Polydactyl, syndactyl

  8. Hand
    Clinodactyl, broadness, bent; tapered fingers, abnormal dermatoglyphics

  9. Assorted symptoms
    Gastrointestinal, neurological, cardiovascular

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