NURSING CARE OF THE HIGH-RISK NEWBORN

All newborns have eight priority needs in the first few days of life:

1. Initiation and maintenance of respirations

2. Establishment of extrauterine circulation
3. Control of body temperature
4. Intake of adequate nourishment
5. Establishment of waste elimination
6. Prevention of infection
7. Establishment of an infant–parent relationship
8. Developmental care, or care that balances physiologic needs and stimulation for best development
These are also the priority needs of high-risk newborns. Because of small size or immaturity or illness, fulfilling
these needs, however, may require special equipment or care measures.
Not all newborns will be able to achieve full wellness because of extreme insults to their health at birth or
difficulty adjusting to extrauterine life.

INITIATING AND MAINTAINING RESPIRATIONS

The prognosis of a high-risk newborn depends primarily on how the first moments of life are managed. Most
deaths occurring during the first 48 hours after birth result from the newborn’s inability to establish or maintain
adequate respirations An infant who has difficulty accomplishing effective respiratory action in the first hours of
life and yet survives may experience residual neurologic difficulties because of cerebral hypoxia. Prompt,
thorough care is necessary for effective intervention.
 If a newborn does not draw in a first breath spontaneously, suction the infant’s mouth and nose with a bulb
syringe again and rub the back to see if skin stimulation initiates respirations. Be certain an infant is dry,
including the hair and head, to prevent chilling. If a newborn has to attempt to raise body temperature because
of chilling, this will increase the need for oxygen, which the baby cannot supply because breathing has not yet
been initiated. Warmed, blow-by oxygen by face mask or positive-pressure mask may be administered.
 If a newborn’s amniotic fluid was meconium stained, do not stimulate an infant to breathe by rubbing the back
or administering air or oxygen under pressure as doing so could push meconium down into an infant’s airway,
further compromising respirations. Give oxygen by mask without pressure. Wait for a laryngoscope to be
passed and the trachea to be deep suctioned before giving oxygen under pressurei
 Do not suction for longer than 10 seconds at a time (count seconds as you suction) to avoid removing
excessive air from an infant’s lungs. Use a gentle touch. Bradycardia or cardiac arrhythmias can occur
because of vagus stimulation (at the posterior oropharynx) from vigorous suctioning
 An infant who still makes no effort at spontaneous respirations requires immediate laryngoscopy to open the
airway. Once a laryngoscope has been inserted, deep tracheal suctioning can be performed. After deep
suctioning, an endotracheal tube can be inserted and oxygen administered by a positive-pressure bag and
mask with 100% oxygen at 40 to 60 breaths per minute

ESTABLISHING EXTRAUTERINE CIRCULATION

 If an infant has no audible heartbeat, or if the cardiac rate is below 80 beats per minute, closed-chest
massage should be started. Hold an infant with fingers supporting the back and depress the sternum with
two fingers. Depress the sternum approximately one third of its depth (1 or 2 cm) at a rate of 100 times per
minute. Lung ventilation at a rate of 30 times per minute should be continued and interspersed with the cardiac
massage at a ratio of 1:3.
 MAINTAINING FLUID AND ELECTROLYTE BALANCE
 After an initial resuscitation attempt, hypoglycemia (decreased blood glucose) may result from the effort the
newborn expended to begin breathing. Dehydration may result from increased insensible water loss from rapid
respirations. Infants with hypoglycemia are treated initially with 10% dextrose in water to restore their blood
glucose level.
 Fluids such as Ringer’s lactate or 5% dextrose in water are commonly used to maintain fluid and electrolyte
levels. Electrolytes (particularly sodium and potassium) and glucose are added as necessary, depending on
electrolyte analysis.

REGULATING TEMPERATURE
 It is important to keep newborns in a neutral-temperature environment, one that is neither too hot nor too cold,
as doing so places less demand on them to maintain a minimal metabolic rate necessary for effective body
functioning. If the environment is too hot, they must decrease metabolism to cool their body. If it is too cold,
they must increase metabolism to warm body cells. The increased metabolism required calls for increased
oxygen; without this oxygen available, body cells become hypoxic.

ESTABLISHING ADEQUATE NUTRITIONAL INTAKE

 Infants who experienced severe asphyxia at birth usually receive intravenous fluids so they do not become
exhausted from sucking or until necrotizing enterocolitis (NEC) has been ruled out, as this could result from the
temporary reduction in oxygen to the bowel
 If an infant’s respiratory rate remains rapid and NEC has been ruled out, gavage feeding may be introduced.
Preterm infants should be breastfed if possible because of the immune protection this offers. If breastfeeding is
not possible because the infant is too immature to suck effectively, a mother can manually express breast milk
or use a breast pump to initiate and continue her milk supply until the time the infant is mature enough or
otherwise ready for effective sucking.
 Preterm infants reveal hunger by the same signs as term infants, such as rooting and crying and sucking
motions. All babies who are gavage fed and need oral stimulation from nonnutritive sucking seem to enjoy a
pacifier at feeding times and, in immature infants, this may help them develop an effective sucking reflex.

ESTABLISHING WASTE ELIMINATION

 Immature infants also may pass stool later than the term infant because meconium has not yet reached the
end of the intestine at birth

PREVENTING INFECTION
 Infection, like chilling, increases metabolic oxygen demands, which the stressed newborn may not be able to
meet. In addition, infection stresses the immature immune system and already stressed defense mechanisms
of a high-risk newborn. Infections may have prenatal, perinatal, or postnatal causes. In some instances, such
as preterm rupture of the membranes, it is an infection such as pneumonia or skin lesions that place the infant
in a high-risk category

PROBLEMS RELATED TO MATURITY AND GESTATIONAL WEIGHT

 Infants need to be evaluated as soon as possible after birth to determine their weight and gestational age as
classification by growth charts and gestational history is important to determine immediate health care needs
and to help anticipate possible problems.
 APPROPRIATE FOR GESTATIONAL AGE (AGA)- Infants who fall between the 10th and 90th percentiles of
weight for their age regardless of gestational age (2.5kg-4.5kg)
 SMALL FOR GESTATIONAL AGE (SGA)- Infants who fall below the 10th percentile of weight for their age
are considered
 LARGE FOR GESTATIONAL AGE (LGA)- who fall above the 90th percentile in weight are considered
 LOW-BIRTH-WEIGHT INFANTS- Infants weighing under 2500 g
 VERY-LOW-BIRTH-WEIGHT INFANTS (VLB)- weighing 1000 to 1500 g
 EXTREMELY VERY-LOW-BIRTH-WEIGHT INFANTS (EVLB)- weighing 500 to 1000 g

The Small-for-Gestational-Age Infant

 An infant is SGA if the birth weight is below the 10th percentile on an intrauterine growth curve for that
age
 SGA infants may be born preterm (before week 38 of gestation), term (between weeks 38 and 42), or
postterm (past 42 weeks)
 SGA infants are small for their age because they have experienced intrauterine growth restriction
(IUGR) or failed to grow at the expected rate in utero
Etiology:
 lack of adequate nutrition- mother
 Pregnant adolescents
 Placental anomaly- most common
 either the placenta did not obtain sufficient nutrients from the uterine arteries or it was inefficient
at transporting nutrients to the fetus.
 Placental damage, such as partial placental separation with bleeding, limits placental function
because the area of placenta that separated becomes infarcted and fibrosed, reducing the
placental surface available for nutrient exchange
 Women with DM and hypertension decreases blood supply
 Women who smoke heavily or use narcotics
 Intrauterine infection such as rubella or toxoplasmosis or has a chromosomal abnormality

Assesstment:
 Fundic height is less than normal
 UTZ can confirm
 Cesarean birth is the birth method of choice

Appearance
 Wasted appearance
 small liver, which can cause difficulty regulating glucose, protein, and bilirubin levels after birth
 poor skin turgor and generally appear to have a large head because the rest of the body is so small
 Skull sutures have widely separated from lack of normal bone growth
 Hair is dull and lusterless
 The abdomen may be sunken
 The umbilical cord often appears dry and may be stained yellow
 Better-developed neurologic responses, sole creases, and ear cartilage than expected for a baby of that weight
 Alert and active for that weigh
 Acrocyanosis (blueness of the hands and feet)- due to polycythemia, blood becomes viscous, and put extra
heart work load

Laboratory Findings:
 High hematocrit level- decrease fluid in the utero
 Polycythemia- bec of fetal anoxia
 Hypoglycemia (decreased blood glucose, or a level below 45 mg/dL)

The Large-for-Gestational-Age Infant

 LGA (also termed macrosomia) if the birth weight is above the 90th percentile on an intrauterine growth chart
for that gestational age
 Baby appears deceptively healthy at birth because of the weight, but a gestational age examination will reveal
immature development
Etiology
 an overproduction of growth hormone in utero
 happens most often to infants of women with diabetes mellitus or women who are obese
 Extreme macrosomia occurs in fetuses of diabetic women whose symptoms are poorly controlled, because
these fetuses are exposed to high glucose levels
 Multiparous women
 Other conditions associated with LGA: transposition of the great vessels, Beckwith syndrome (a rare condition
characterized by overgrowth), and congenital anomalies such as omphalocele.
 Cesarean birth is the birth method of choice due to shoulder dystocia
Assessment
 woman’s uterus is unusually large for the date of pregnancy
Apperance
 immature reflexes and low scores on gestational age examinations
 They may have extensive bruising or a birth injury such as a broken clavicle or Erb-Duchenne paralysis from
trauma to the cervical nerves if they were born vaginally
 Prominent caput succedaneum, cephalhematoma, or molding

A PRETERM INFANT
 A preterm infant is traditionally defined as a live-born infant born before the end of week 37 of gestation
 another criterion used is a weight of less than 2500 g (5 lb 8 oz) at birth
 When a preterm infant is recognized by a gestational age assessment, observe closely for the specific
problems of prematurity, such as respiratory distress syndrome, hypoglycemia, and intracranial hemorrhage
 All preterm infants need intensive care from the moment of birth to give them their best chance of survival
without neurologic after-effects. A lack of lung surfactant makes them extremely vulnerable to respiratory
distress syndrome
 The maturity of a newborn is determined by physical findings such as sole creases, skull firmness, ear
cartilage, and neurologic findings that reveal gestational age, as well as the mother’s report of the date of her
last menstrual period and sonographic estimations of gestational age.
Etiology
 The exact cause of premature labor and early birth is rarely known
 High correlation between low socioeconomic level and early termination of pregnancy due to inadequate
nutrition before and during pregnancy, as a result of either lack of money for or lack of knowledge about good
nutrition
 Iatrogenic (health care–caused) issues, such as elective cesarean birth and inducing labor according to dates
rather than fetal maturity, also result in preterm births
 More multiple pregnancies result in preterm birth than term pregnancies

Assessment
 preterm infant appears small and underdeveloped
 head is disproportionately large (3 cm greater than chest size).
 skin is generally unusually ruddy because there is little subcutaneous fat beneath it; veins are easily
noticeable, and a high degree of acrocyanosis may be present
 preterm neonate, 24 to 36 weeks, typically is covered with vernix caseosa
 Lanugo is usually extensive, covering the back, forearms, forehead, and sides of the face, because this
amount is present until late in pregnancy.
 Both anterior and posterior fontanelles are small. There are few or no creases on the soles of the feet
 preterm infant has varying degrees of myopia (nearsightedness) because of lack of eye globe depth
 The ears appear large & the cartilage of the ear is immature and allows the pinna to fall forward
 Reflexes such as sucking and swallowing will be absent if an infant’s age is below 33 weeks; deep tendon
reflexes such as the Achilles tendon reflex are also markedly diminished
 a preterm infant is much less active than a mature infant and rarely cries. If the infant does cry, the cry is weak
and high-pitched
Potential Complications:
 Anemia of Prematurity
o normochromic, normocytic anemia (normal cells, just few in number)
o reticulocyte count is low because the bone marrow does not increase its production until approximately
32 weeks.
o infant will appear pale and may be lethargic and anorectic due to immature hematopoietic system &
o destruction of red blood cells because of low levels of vitamin E, which normally protects red blood cells
against oxidation
 administration of DNA recombinant erythropoietin & BT
 Kernicterus-destruction of brain cells by invasion of indirect bilirubin
o more prone to the condition than term infants because with the acidosis that occurs from poor
respiratory exchange, brain cells are more susceptible to the effect of indirect bilirubin than usually.
 If jaundice occurs, phototherapy or exchange transfusion can be initiated to prevent excessively high
indirect bilirubin levels
 Persistent Patent Ductus Arteriosus
o Because preterm infants lack surfactant, their lungs are noncompliant, so it is more difficult for them to
move blood from the pulmonary artery into the lungs. This condition leads to pulmonary artery
hypertension, which may interfere with closure of the ductus arteriosus
 indomethacin or ibuprofen may be administered to close the patent ductus arteriosus
 Periventricular/Intraventricular Hemorrhage
o periventricular hemorrhage (bleeding into the tissue surrounding the ventricles) or intraventricular
hemorrhage (bleeding into the ventricles)
o due to fragile capillaries and immature cerebral vascular development
 o infant experiences brain anoxia distal to the rupture. Hydrocephalus may occur from bleeding into the
aqueduct of Sylvius with resulting clotting and obstruction of the aqueduct

THE POSTTERM INFANT

 A postterm infant is one born after the 42nd week of a pregnancy
 Most nurse-midwives and obstetricians recommend inducing labor at 2 weeks postterm to avoid postmature
births. However, when gestational age has been miscalculated or if for some other reason labor is not induced
until week 43 of pregnancy or after, the pregnancy may result in a postterm infant
 An infant who stays in utero past week 42 of pregnancy is at special risk because a placenta appears to
function effectively for only 40 weeks
 Postterm Syndrome-have many of the characteristics of the SGA infant: dry, cracked, almost leather-like skin
from lack of fluid, and absence of vernix
o may be lightweight from a recent weight loss that occurred because of the poor placental function
o amniotic fluid may be less at birth than normal, and it may be meconium stained
o Fingernails will have grown well beyond the end of the fingertips.
o infants may demonstrate an alertness much more like a 2-week-old baby than a newborn
 Cesarean birth may be indicated if a nonstress test reveals that compromised placental functioning may occur
during labor.
 Hypoglycemia may develop because the fetus had to use stores of glycogen for nourishment in the last weeks
of intrauterine life
 Postterm baby is likely to have difficulty establishing respirations, especially if meconium aspiration occurred.

ILLNESS IN NEWBORN

RESPIRATORY DISTRESS SYNDROME

 formerly termed hyaline membrane disease, most often occurs in preterm infants, infants of diabetic mothers,
infants born by cesarean birth, or those who for any reason have decreased blood perfusion of the lungs, such
as occurs with meconium aspiration
 The pathologic feature of RDS is a hyaline-like (fibrous) membrane formed from an exudate of an infant’s
blood that begins to line the terminal bronchioles, alveolar ducts, and alveoli which prevents exchange of
oxygen and carbon dioxide at the alveolar–capillary membrane.
 The cause of RDS is a low level or absence of surfactant, the phospholipid that normally lines the alveoli and
reduces surface tension to keep the alveoli from collapsing on expiration
 Because surfactant does not form until the 34th week of gestation, as many as 30% of low-birth-weight infants
and as many as 50% of very-low-birth-weight infants are susceptible to this complication.
Assessment:
 Low body temperature
 Nasal flaring
 Sternal and subcostal retractions
 Tachypnea (more than 60 respirations per minute)
 Cyanotic mucous membranes
 Within several hours, expiratory grunting, caused by closure of the glottis to create a prolonged expiratory time
 On auscultation, there may be fine rales and diminished breath sounds because of poor air entry
 Seesaw respirations (on inspiration, the anterior chest wall retracts and the abdomen protrudes; on expiration,
the sternum rises)
 Heart failure, evidenced by decreased urine output and edema of the extremities
 Pale gray skin
 Periods of apnea
 Bradycardia
 Pneumothorax
Dignosis:
 The diagnosis of RDS is made on the clinical signs of grunting, central cyanosis in room air, tachypnea, nasal
flaring, retractions, and shock. A chest radiograph will reveal a diffuse pattern of radiopaque areas that look
like ground glass (haziness).
Therapeutic Management:
 Surfactant Replacement- synthetic surfactant is sprayed into the lungs by a syringe or catheter through an
endotracheal tube at birth while an infant is first positioned with the head held upright and then tilted
downward.
 It is important an infant’s airway not be suctioned for as long a period as possible after administration of
surfactant to avoid suctioning the drug away
 Oxygen Administration- Continuous positive airway pressure (CPAP) or assisted ventilation with positive end-
expiratory pressure (PEEP) will exert pressure on the alveoli at the end of expiration and keep the alveoli from
collapsing
 Another method of increasing pulmonary blood flow is by using muscle relaxants. Pancuronium (Pavulon) can
be administered intravenously to the point of abolishing spontaneous respiratory action. This allows mech
ventelation to be at lower pressures because there is no normal muscle resistance to overcome.
 An infant with RDS must be kept warm because cooling increases acidosis in all newborns, and for the
newborn with RDS it may increase to lethal levels.
 Provide hydration and nutrition with intravenous fluids, glucose, or gavage feeding because the respiratory
effort makes an infant too exhausted to suck
Prevention:
 Preventing preterm labor
 Assessing fetal LS ratio (1:2)
TRANSIENT TACHYPNEA OF THE NEWBORN (TTN)
 the respiratory rate remains at a high level, between 80 and 120 breaths per minute
 The infant does not appear to be in a great deal of distress, aside from the tiring effort of breathing so rapidly
 Transient tachypnea may reflect a slight decrease in production of phosphatidyl glycerol or mature surfactant
but is a direct result of retained lung fluid. Retained lung fluid limits the amount of alveolar surface that is
available for oxygen exchange.
 Transient tachypnea occurs more often in infants who are born by cesarean birth, in infants whose mothers
received extensive fluid administration during labor, and in preterm infants. Infants born by cesarean birth are
probably more prone to develop this form of respiratory distress because the thoracic cavity is not
compressed as it is in vaginal birth, so less lung fluid is expelled than normally
Assessment:
 Mild retractions but not marked cyanosis, mild hypoxia, and hypercapnia may be present.
 Feeding is difficult because the child cannot suck and breathe this rapidly at the same time.
 A chest radiograph will reveal some fluid in the central lung, but aeration is, overall, adequate
 Transient tachypnea of the newborn peaks in intensity at approximately 36 hours of life and then begins to
fade. Typically, by 72 hours of life, it spontaneously fades as the lung fluid is absorbed and respiratory activity
becomes effective.
 MECONIUM ASPIRATION SYNDROME
 Meconium is present in the fetal bowel as early as 10 weeks’ gestation. If hypoxia occurs, a vagal reflex is
stimulated, resulting in relaxation of the rectal sphincter. This releases meconium into the amniotic fluid.
 Meconium staining occurs in approximately 10% to 12% of all pregnancies; in 2% to 9% of these pregnancies,
infants will aspirate the meconium
 Meconium aspiration does not tend to occur in extremelylow-birth-weight infants because the substance has
not passed far enough in the bowel for it to be at the rectum in these infant
 An infant may aspirate meconium either in utero or with the first breath at birth.
 Can cause severe respi distree by: It causes inflammation of bronchioles because it is a foreign substance; it
can block small bronchioles by mechanical plugging; and it can cause a decrease in surfactant production
through lung trauma
 Hypoxemia, carbon dioxide retention, and intrapulmonary and extrapulmonary shunting occur
 A secondary infection of injured tissue may lead to pneumonia.

Assessment:
 Tachypnea, retractions, and cyanosis occur.
 Infant should be suctioned with a bulb syringe or catheter while at the perineum, before the birth of the
shoulders, to avoid meconium aspiration.
 Do not administer oxygen under pressure (bag and mask) until an infant has been intubated and suctioned, so
that the pressure of the oxygen does not drive small plugs of meconium farther down into the lungs, worsening
the irritation and obstruction
Therapeutic Management:
 Amnioinfusion can be used to dilute the amount of meconium in amniotic fluid and reduce the risk of aspiration
 Born by cesarean birth after deeply meconium-stained amniotic fluid becomes evident during labor.
 Antibiotic therapy may be used to forestall the development of pneumonia as a secondary problem
 Surfactant may be administered to increase lung compliance
 Chest physiotherapy with clapping and vibration may be helpful to encourage removal of remnants of
meconium from the lungs
 Assess fo cardiac distress and pulmunary compramise

APNEA
 Apnea is a pause in respirations longer than 20 seconds with accompanying bradycardia
 Beginning cyanosis also may be present.
 Many preterm infants have periods of apnea due to fatigue or immature respiratory mechanisms.
 Babies with secondary stresses, such as infection, hyperbilirubinemia, hypoglycemia, or hypothermia, tend to
have a high incidence of apnea
 Gently shaking an infant or flicking the sole of the foot often stimulates the baby to breathe again, almost as if
the child needed to be reminded to maintain this function.
 If an infant does not respond to these simple measures, resuscitation is necessary.
Management:
 maintain a neutral thermal environment and use gentle handling to avoid excessive fatigue
 Always suction gently to minimize nasopharyngeal irritation, which can cause bradycardia because of vagal
stimulation
 Using indwelling nasogastric tubes rather than intermittent ones can also reduce the amount of vagal
stimulation.
 Never take rectal temperatures in infants prone to apnea; the resulting vagal stimulation can reduce the heart
rate (bradycardia), which can lead to apnea
 Theophylline or caffeine sodium benzoate may be administered to stimulate respirations.

SUDDEN INFANT DEATH SYNDROME (SIDS)

 SIDS is sudden unexplained death in infancy. It tends to occur at a higher-than-usual rate in infants of
adolescent mothers, infants of closely spaced pregnancies, and underweight and preterm infants. Also prone
to SIDS are infants with bronchopulmonary dysplasia, twins.
 The peak age of incidence is 2 to 4 months of age
 Although the cause of SIDS is unknown, in addition to prolonged but unexplained apnea, other possible
contributing factors include:
o Viral respiratory or botulism infection
 Pulmonary edema
 Brain stem abnormalities
 Neurotransmitter deficiencies
 Heart rate abnormalities
 Distorted familial breathing patterns
 Decreased arousal responses
 Possible lack of surfactant in alveoli
 Sleeping in a room without moving air currents (the infant rebreathes expired carbon dioxide)
 Typically, affected infants are well nourished. Parents report that an infant may have had a slight head cold.
After being put to bed at night or for a nap, the infant is found dead a few hours later; they die with
laryngospasm
 An autopsy often reveals petechiae in the lungs and mild inflammation and congestion in the respiratory tract
 Family counselling should be done, explain that its not their fault

APPARENT LIFE-THREATENING EVENT

 Some infants have been discovered cyanotic and limp in their beds but have survived after mouth-to-mouth
resuscitation by parents.
 For these infants as well as for preterm infants with a tendency toward apnea or new babies born to a family
whose child died from SIDS, apnea monitoring is available.
 Because SIDS is a baffling disease, these parents will live in fear of SIDS until their child reaches at least 1
year of age.

HEMOLYTIC DISEASE OF THE NEWBORN

 Lysis of red blood cells in the newborn leads to hyperbilirubinemia (an elevated level of bilirubin in the blood)
 Causes: Rh and ABO incompatibility
ABO Incompatibility
o the maternal blood type is O and the fetal blood type is A; it may also occur when the fetus has type B or AB
blood. A reaction in an infant with type B blood is often the most serious.
o With birth, progressive jaundice, usually occurring within the first 24 hours of life, will begin, indicating in both
Rh and ABO incompatibility that a hemolytic process is at work.
o The jaundice occurs because as red blood cells are destroyed, indirect bilirubin is released. Indirect bilirubin is
fat soluble and cannot be excreted from the body.
o Liver will relase an enzyme glucuronyl transferase converts indirect bilirubin to direct bilirubin to make it water
soluble and be excreted in urine( yellow in color urine)
o In preterm infants or those with extreme hemolysis, the liver cannot convert indirect to direct bilirubin, so
jaundice becomes extreme.
o An increasing indirect bilirubin level is dangerous because if the level rises above 20 mg/dL in a term infant or
12 mg/dL in a preterm infant, brain damage from bilirubin-induced neurologic dysfunction (BIND) or a wide
spectrum of disorders caused by increasingly severe hyperbilirubinemia that range from mild dysfunction
to kernicterus (invasion of bilirubin into brain cells) can occur.

Therapeutic Management:
 Initiation of Early Feeding-Bilirubin is removed from the body by being incorporated into feces. Therefore, the
sooner bowel elimination begins, the sooner bilirubin removal begins.
 Phototherapy
o With birth, exposure to light triggers the liver to assume this function and Additional light supplied by
phototherapy appears to speed the conversion potential of the liver.
o In phototherapy, an infant is continuously exposed to specialized light such as quartz halogen, cool
white daylight, or special blue fluorescent light. The lights are placed 12 to 30 inches above the
newborn’s bassinet or incubator
o An infant must continuously wear eye patches and a diaper during phototherapy to protect the
retinas and the ovaries or testes
o The stools of an infant under bilirubin lights are often bright green because of the excessive bilirubin
that is excreted as the result of the therapy. Urine may be dark-colored from urobilinogen formation.
o Assess skin turgor and intake and output to ensure that dehydration is not occurring from the warm
environment.
 Exchange Transfusion-The umbilical vein is catheterized as the site for transfusion. The procedure involves
alternatively withdrawing small amounts (2–10 mL) of the infant’s blood and then replacing it with equal
amounts of donor blood. The blood is exchanged slowly this way to prevent alternating hypovolemia and
hypervolemia. This can make an exchange transfusion a lengthy procedure of 1 to 3 hours.

AN INFANT OF A WOMAN WHO HAS DIABETES MELLITUS

 An infant of a woman who has diabetes mellitus whose illness was poorly controlled during pregnancy is
typically longer and weighs more than other babies (macrosomia).
 baby also has a greater chance of having a congenital anomaly such as a cardiac anomaly.
 Most such babies have a cushingoid (fat and puffy) appearance. They tend to be lethargic or limp in the first
days of life as a result of hyperglycemia.
 They are prone with: Immature, RDS , small colon
Therapeutic Management:
 To avoid a serum glucose level from falling this low, infants of diabetic women are fed early with formula or
administered a continuous infusion of glucose

AN INFANT OF A DRUG-DEPENDENT MOTHER

 Infants of drug-dependent women tend to be SGA. If the woman is dependent on a drug, an infant will show
withdrawal symptoms (neonatal abstinence syndrome)
 Irritability
 Disturbed sleep pattern
 Constant movement, possibly leading to abrasions on the elbows, knees, or nose
 Tremors
 Frequent sneezing
 Shrill, high-pitched cry
 Possible hyperreflexia and clonus (neuromuscular irritability)
 Convulsions
 Tachypnea (rapid respirations), possibly so severe that it leads to hyperventilatio and alkalosis
 Vomiting and diarrhea, leading to large fluid losses and secondary dehydration
 In newborns experiencing opiate withdrawal, signs usually begin 24 to 48 hours after birth, but in some infants
they may not appear for up to 10 days.
 Infants of drug-dependent women usually seem most comfortable when firmly swaddled. Keep them in an
environment free from excessive stimuli (a small isolation nursery, not a large, noisy one). Some quiet best if
the room is darkened.
 Specific therapy for an infant is individualized according to the nature and severity of the signs

AN INFANT WITH FETAL ALCOHOL EXPOSURE

 Alcohol crosses the placenta in the same concentration as is present in the maternal bloodstream. This results
in fetal alcohol exposure and fetal alcohol syndrome
 The newborn with fetal alcohol syndrome has several possible problems at birth. Characteristics that mark the
syndrome include prenatal and postnatal growth restriction; central nervous system involvement such as
cognitive challenge, microcephaly, and cerebral palsy; and a distinctive facial feature of a short palpebral
fissure and thin upper lip.
 The most serious long-term effect is cognitive challenge.

COMMON PROBLEMS DURING INFANCY

NUETRAL TUBE DEFECT

 The human nervous system originates from the primitive ectoderm that also develops into the
epidermis.
 The endoderm, particularly the notochordal plate and the intraembryonic mesoderm, induces the
overlying ectoderm to develop the neural plate in the 3rd wk of development
 Failure of normal induction is responsible for most of the NTDs, as well as disorders of prosencephalic
development.
 Neural tube defects (NTDs) account for the largest proportion of congenital anomalies of the
CNS
 Result from failure of the neural tube to close spontaneously between the 3rd and 4th wk of in utero
development.
 Alhough the precise cause of NTDs remains unknown
Risk Factors:
 Family history of NTDs
 Certain syndromes and chromosomal disorders.
  Low dietary low folic acid
 Administration of sodium valproate and folic acid antagonists, e.g. some anti-epileptics, trimethoprim
(co-trimoxazole)
 Hyperthermia
 Malnutrition
 Low red cell folate levels
 Chemicals, Radiation
 Maternal obesity or diabetes
 Genetic determinants (mutations in folate-responsive or folate-dependent enzyme pathways)
Classifications:
 Open: often involve the entire CNS with neural tissue is exposed and CSF leaking
 Closed: localised to the spine; brain rarely affected; neural tissue not exposed although the skin
covering the defect may be dysplastic
 The two most common NTDs are spina bifida (a spinal cord defect) and anencephaly (a brain defect).

ANENCEPHALY
 Distinctive appearance: large defect of the calvarium, meninges, and scalp associated with a
rudimentary brain.
 Results from failure of closure of the rostral neuropore, the opening of the anterior neural tube.
 The cerebral hemispheres and cerebellum are usually absent, and only a residue of the
brainstem can be identified.
 With other additional anomalies

ENCEPHALOCELE
 Infants with a cranial encephalocele are at increased risk for developing hydrocephalus because of
aqueductal stenosis, Chiari malformation, or the Dandy-Walker syndrome.
 Examination might show a small sac with a pedunculated stalk or a large cyst-like structure that can
exceed the size of the cranium.
 The lesion may be completely covered with skin, but areas of denuded lesion can occur and require
 Urgent surgical management
SPINA BIFIDA
 Is one of the most serious veterbral defect
 Results from imperfect fusion or non-union of the veterbral arches.
 Cleft veterbrae
 Any neurological deficit depends on the level and the extent of the lesion.
 Major Types:
 Spina Bifida Occulta
 Spina Bifida Cystica: Meningocele/ Myelomeningocele
MENINGOCELE
 The spinal cord is usually normal and assumes a normal position in the spinal canal, although there
may be tethering of the cord, syringomyelia, or diastematomyelia

MYELOMENINGOCELE
 Most severe form of dysraphism, a so-called aperta or open form, involving the vertebral column and
spinal cord.
 Incidence is approximately 1 in 4,000 live births
Diagnosis:
  MRI: best for imaging neural tissue & identifying contents of the defect
 CT: direct visualisation of the bony defect and anatomy
 Ultrasound: for prenatal screening
 X-ray
Prenatal Screening
 Failure of closure of the neural tube allows excretion of fetal substances (α-fetoprotein [AFP],
acetylcholinesterase) into the amniotic fluid, serving as biochemical markers for a NTD.
 Prenatal screening of maternal serum for AFP in the 16th-18th wk of gestation is an effective method for
identifying pregnancies at risk for fetuses with NTDs in utero
Management:
 Multidisciplinary approach - to address any associated physical, developmental, hearing, visual and
learning difficulties
 Surgery
 Keep baby warm and the defect covered with a sterile saline dressing
 Position baby in prone position to avoid pressure on the defect
 Defect should be closed promptly monitored
 Treatment of hydrocephalus
Complications:
 Infections
 Associated motor and sensory problems, particularly lower limb
 Associated learning disability, developmental delay and hearing impairment
 Bladder and bowel dysfunction
Prevention:
 Pre-conceptional folate supplementation
 Food fortification with the addition of folate

HYDROCEPHALUS
 Term derived from two Greek words-
 “hydro” means water and
 “cephalus” means head.
 “water in the brain”
 Caused by an imbalance in the production and absorption of CSF in the ventricular system.
 When production exceeds absorption, CSF accumulates, usually under pressure, producing dilation of
the ventricles.
 A build up of fluid inside the skull, leading to brain swelling.
 Primary hydrocephalus without spina bifida is approximately 1 in 2500 live births, making it one of the
most common developmental disabilities, more common than Down syndrome or deafness.
 Leading cause of brain surgery for children.
 Death rates associated with hydrocephalus have decreased from 54% to 5% and the occurrence of
intellectual disability has decreased from 62% to 30%.
Causes of Hydrocephalus:
CONGENITAL HYDROCEPHALUS
 Intrauterine infections: Rubella, Cytomegalovirus, Toxoplasmosis.
 Trauma: subarachnoid, intracranial, intraventricular hemorrhages.
 Congenital malformations:
 o Dandy-walker syndrome: here posterior fossa cyst continuous with 4th ventricle.
o Aqueduct stenosis: it accounts for 33% of hydrocephalus cases. Stenosis of aqueduct of sylvius
causes dilation of lateral and 3rd ventricles. In 2% of cases this could be familial with X linked
recessive inheritance.
o Arnold-Chiari syndrome- Portions of cerebellum & brainstem herniating into cervical spinal
canal, blocking the flow of CSF to the posterior fossa
ACQUIRED HYDROCEPHALUS:
 Tuberculosis, chronic & pyogenic meningitis.
 Post-intraventricular hemorrhage.
 Posterior fossa tumors: medulloblastoma, astrocytoma, ependymoma.
 Arteriovenous malformation, intracranial hemorrhage, ruptured aneurysm
Types of Hydrocephalus
Noncommunicating (Obstructive or Interventricular) Hydrocephalus
 There is blockage between the ventricular & subarachnoid systems, resulting in an interference
with circulation of CSF & lack of access to the subaracnoid spaces.
 The fluid distends the ventricles.
 There is a gradual thinning of the brain substance, which is compressed between the distended
ventricles & the expanding skull.
 May be due to stenosis of the aqueduct of sylivus, either a congenital defect or acquired
Obstructive hydrocephalus
 May result postnatally from brain tumors that put pressure on or extend into the ventricles or circulation
pathways.
Communicating (Extraventricular) Hydrocephalus
 There is normal communication between the ventricles & the spinal subarachnoid space.
 Interference with the absorption of CSF caused by an occlusion of the subarachnoid cisterns around
the brain stem.
 The fluid that is not absorbed in the subarachnoid space accumulates, compressing the brain &
distending the cranial cavity.
 due to subarachnoid hemorrhage or meningitis, toxoplasmosis or cytomegalovirus infection, in which
there is an obliteration of the subarachnoid spaces by fibrous tissue reaction, or to diseases of
connective tissue
Manifestations: In Infants;
 Head grows at abnormal rate.
 Anterior fontanel is tense, often bulging, & non pulsatile.
 Scalp veins are dilated & markedly so when infant cries
 Macewen’s sign- with increase in intracranial volume, the bones of the skull become thin & the sutures
become palpably separated to produce the cracked pot sound on the percussion of the skull.
 Frontal bossing with depressed eyes
 Setting-sun sign- eyes rotated downward, in which sclera may be visible above iris.
 Feeds poorly
 Pupils are sluggish, with unequal response to light
 Changes in level of consciousness.
 Opisthotonus position & lower extremityspasticity.
 Cries when picked up & quiets when allowed to lie still.
  If hydrocephalus is allowed to progress- there will be disruption in the lower brainstem function as
manifested by difficulty in feeding & a shrill, brief, high-pitched cry. Eventually the skull becomes
enlarged, & the cortex is destroyed.
Diagnosis:
 Routine daily head (occipitofrontal) circumference measurements.
 A head CT scan is one of the best tests for identifying hydrocephalus.
 Brain scan using radioisotopes
 Cranial ultrasound (an ultrasound of the brain)
 Lumbar puncture and examination of the cerebrospinal fluid (rarely done).
 Skull x-rays.
Management:
GOALS:
 Relief of the hydrocephalus,
 Treatment of complications,
 Management of problems related to the effect of the disorder on psychomotor development.
 The treatment is, with few exceptions, surgical.
Medical interventions: This can be tried in mild cases of hydrocephalus.
 Acetozolamide: dose of 50mg/kg/day dimnishes CSF production.
 Oral glycerol has also been used for the similar purpose.
Surgical Management:
 The removal of the obstruction (tumor, hemorrhage or cyst) to the flow of CSF.
 Reduction in the amount of CSF produced through destruction of a portion of the choroid plexus or
a third or fourth ventriculostomy.
 Shunting of CSF from the ventricle to another site in the normal circulatory passageway of this
fluid.
 Shunting of CSF from the ventricle to an area outside the CNS, an extracranial body compartment.
 Shunting is the most common procedure to be done in the surgical management of
hydrocephalus.
 Most shunt systems consist of a ventricular catheter, a flush pump, a unidirectional flow valve & a
distal catheter. All are radiopaque for easy visualization after placement & all are tested before
insertion
Surgical Management: Types of Shunts
Ventriculoperitoneal (VP) shunt
 preferred procedure in neonates & young infants.
 There is greater allowance for excess tubing, which minimizes the number of revisions needed
as the child grows.
 Ventricular catheter is inserted into the anterior portion of a lateral ventricle through a burr hole in the
skull.
Ventriculoarterial(VA) shunt
 Reserved for older children who have attained most of their somatic growth & children with
abdominal pathology.
 It requires repeated lengthening as child grows.
 A silicon catheter is inserted in lateral ventricle & down through the internal jugular vein into left atrium
of the heart.
Ventriculopleural shunt
 sometimes used in children over 5 years of age.
 Drains fluid from the lateral ventricle to the pleural cavity.
  Drainage of the CSF may cause hydrothorax, necessitating either removal of the shunt or a
thoracentesis.
 The nurse must observe these children carefully for respiratory difficulties.
Endoscopic third ventriculostomy
 Has potential for greater independence from VP or VA shunting in children with
noncommunicating hydrocephalus.
 A small opening is made in the floor of the 3rd ventricle, allowing CSF to flow freely through previously
blocked ventricle, thus bypassing the aqueduct of sylvius
Surgical Management: Complications of Shunts
 The major complications of shunts are infection & malfunction.
 All shunts are subjected to mechanical difficulties, such as kinking, plugging, or separation & migration
of tubing.
 Malfunction is most often caused by mechanical obstruction either within the ventricles from articulate
matter (tissue or exudates) or at the distal end from thrombosis or displacement as a result of growth.
 The child with a shunt obstruction often presents as an emergency with clinical manifestations of
increased ICP, frequently accompanied by worsening neurologic status
 Shunt infection is also a serious complication of shunts.
 It can occur at any time, but the period of greatest risk is 1 to 2 months following placement.
 The infection may be a result of intercurrent infections at the time of shunt replacement.
 Infections include sepsis, bacterial endocarditis, wound infection, shunt nephritis, meningitis.
 Subdural hematoma caused by rapid reduction of ICP & size.
 Other complications that may include peritonitis, abdominal abscesses, perforation of abdominal organs
by catheter or trochar (at the time of insertion), fistulas, hernias.
Nursing Management:
 Teach the family about the management required for the disorder.
 Provide preoperative nursing care
 Assess head circumference, fontanelles, cranial sutures, and LOC; check also for irritability, altered
feeding habits and a highpitched cry.
 Firmly support the head and neck when holding the child.
 Provide skin care for the head to prevent breakdown.
 Give small, frequent feedings to decrease the risk of vomiting.
 Encourage parental-newborn bonding.
 Provide Postoperative nursing care
 Assess for signs of increased ICP and check the following; head circumference (daily), anterior
fontanels for size and fullness and behaviour.
 Administer prescribed medications which may include antibiotics to prevent infection and analgesics for
pain.
 If there is increased ICP elevate the head of the bed or allow the child to sit up to enhance
gravity flow through shunt.
 Observe the child for abdominal distension.
 Maintain intake-output chart.
 Provide shunt care
 Monitor for shunt infection and malfunction which may be characterized by rapid onset of vomiting,
severe headache, irritability, lethargy, fever, redness along the shunt tract, and fluid around the shunt
valve.
 Prevent infection (usually from Staphylococcus epidermis or Staphylococcus aureus)
 Monitor for shunt overdrainage (headache, dizziness and nausea). Overdrainage may lead to slit
ventricle syndrome whereby the ventricle become accustomed to a very small or slitlike configuration,
limiting the buffering ability to increased ICP variations
 Teach home care
  Encourage the child to participate in age appropriate activities as tolerated. Encourage the
parents to provide as normal lifestyle as possible.
 Explain how to recognize signs and symptoms of increased ICP. Subtle signs include changes in
school performance, intermittent headache, and mild behavior changes, frequent nausea and vomiting ,
 Frequent developmental screenings & follow ups.

CARDIO VASCULAR COMPLICATIONS

Fetal Circulation
 For the fetus the placenta is the oxygenator so the lungs do little work
 RV & LV contribute equally to the systemic circulation and pump against similar resistance
 Shunts are necessary for survival
o ductus venosus (bypasses liver)

o foramen ovale (R→L atrial level shunt) normal opening between the upper two chambers (the
right atrium and left atrium)- c
o ductus arteriosus (R→L arterial level shunt)

Transitional Circulation
 With first few breaths lungs expand and serve as the oxygenator (and the placenta is removed from
the circuit)
 Foramen ovale functionally closes- 6m-1yr of life
 Ductus arteriosus usually closes within first 1-2 day
Neonatal Circulation
 RV pumps to pulmonary circulation and
 LV pumps to systemic circulation
 Pulmonary resistance (PVR) is high; so initially RV pressure ~ LV pressure
 By 6 weeks pulmonary resistance drops and LV becomes dominant

CONGENITAL HEART DISEASE

 Defect in the structure or function of the heart and great vessels which is present at birth.
 Most common congenital disorder in newborns
 Occurs in approximately 0.8% of live births
 With advances in both palliative and corrective surgery, the number of children with CHD surviving to
adulthood has increased dramatically.
 Despite these advances, CHD remains the leading cause of death in children with congenital
malformations
Etiology and Risk Factors
 The cause of most congenital heart defects is unknown.
 Multifactorial
 Combination of genetic predisposition (increases if a 1st-degree relative (parent or sibling) is affected)
and environmental stimulus
 Related to chromosomal abnormalities, in particular, trisomy and Turner syndrome.
 Third Pregnancy 20-30%
 Environmental or adverse maternal conditions and teratogenic influences 2-4%:
 maternal diabetes mellitus,
 phenylketonuria, or
 systemic lupus erythematosus
 congenital rubella syndrome
 maternal ingestion of drugs
 lithium, ethanol, warfarin, thalidomide, antimetabolites, vitamin A derivatives, anticonvulsant agents

Classifications:

ACYANOTIC DISORDERS
 Increased Pulmonary blood flow
 Left-to-Right Shunt Lesions
 The pathophysiologic common denominator in this group is communication between the systemic
and pulmonary sides of the circulation, which results in shunting of fully oxygenated blood
back into the lungs

PATENT DUCTUS ARTERIOSUS

 Persistence of the normal fetal vessel that joins the Pulmonary artery to the Aorta.
 Normally closes in the 1st wk of life.
 Female: Male ratio of 2:1
 associated with maternal rubella infection during early pregnancy
 PDA is a common problem in premature infants.
 As a result of higher aortic pressure, blood shunts L to R through the ductus from Aorta to PA
PDA: Manifestations
 A small PDA is usually asymptomatic.
 Tachycardia
  Shortness of breath
 Retardation of physical growth.
 Characteristic systolic-diastolic murmur at the base of the heart with maximum in the PA
 Classic continuous machine-like murmur
 It begins soon after onset of the 1st sound, reaches maximal intensity at the end of systole, and wanes
in late diastole.
 Prominent apical impulse
 Enlarged heart
 Left sub clavicular thrill
 Bounding pulse
MANGEMENT:
 An infant may be prescribed IV indomethacin or ibuprofen, prostaglandin inhibitors
 These lower the PGE1 level and encourage ductus closure
 Because it has much fewer side effects, ibuprofen is becoming the drug of choice; it can even be used
as prophylaxis in preterm infants
 If medical management fails to bring about closure of the ductus arteriosus, the disorder can be closed
by insertion of Dacron-coated stainless-steel coils by interventional cardiac catheterization when the
child is 6 months to 1 year of age.
 Exceptionally large defects can be closed surgically by ductal ligation. This involves major surgery
because opening the chest (thoracotomy) and manipulating the great vessels is necessary.
 If surgery is not done by one of these techniques, the child is at risk for heart failure from the increased
amount of blood pouring back into the pulmonary artery and infectious endocarditis developing from the
recirculating blood and potential stasis in the pulmonary artery.

ATRIAL SEPTAL DEFECT (ASD)

 Opening in the atrial septum permitting free communication of blood between the atria
 Can occur in any portion of the atrial septum (secundum, primum, or sinus venosus), depending on
which embryonic septal structure has failed to develop normally
ASD: Manifestations
 Most infants with ASDs are asymptomatic.
 They may present at 6 to 8 weeks of age with a soft systolic ejection murmur
 Hyperactive precordium, RV heave, fixed widely split S2.
 Mid-diastolic murmur heard over LLSB.
 Children with large left-to-right shunts are likely to complain of some fatigue and dyspnea.
 Growth failure is very uncommon
Management:
  Surgery to close the defect is done electively between 1 and 3 years of age
 Closure is important because a child will be at risk for infectious endocarditis and eventual heart failure.
 It is particularly important that ASDs be repaired in girls, because they can cause emboli during
pregnancy
 Large defects may still require open heart surgery and cardiopulmonary bypass.
 Postoperatively, carefully observe the child for arrhythmias because edema of the right atrium could
interfere with SA node function.
VENTRICULAR SEPTAL DEFECT (VSD)
 An abnormal opening in the ventricular septum, which allows free communication between the R & L
ventricles.
 Accounts for 25% of CHD.
 During systole some of the blood from the LV leaks into the RV, passes through the lungs and reenters
the LV via the pulmonary veins and LA.
 Such circuitous route of blood causes volume overload
 The LV normally has a much higher systolic pressure (~100 mm Hg) than the RV (~85 mm Hg) and
through VSD blood leaks into the RV and elevates RV pressure and volume, causing Pulmonary HTN.
Types of VSD
 Peri membranous (or membranous) – Most common (80%). defect lies in the outflow tract of the left
ventricle immediately beneath the aortic valve
 Muscular VSD – Defects in the muscular septum are frequently multiple and make up 5% to 20% of
defects found at surgery
 Infundibular (subpulmonary VSD) – involves the RV outflow tract. Defects in the outflow tract of the
right ventricle beneath the pulmonary valve
 AVSD – inlet VSD, posterior and inferior to the membranous defect, beneath the septal leaflet of the
tricuspid valve almost always involves AV valvular abnormalities
VSD: Manifestations
 Small - moderate VSD, 3-6mm, are usually asymptomatic and 50% will close spontaneously by
age 2yrs.
 Moderate – large VSD, almost always have symptoms and will require surgical repair.
 Harsh holosystolic murmur heard along the LSB, more prominent with small VSD, may be
absent with a very Large VSD
 Prominent P2, Diastolic murmur.
 CHF, FTT, Respiratory infections, exercise intolerance
 Hyperactive precordium.
 Symptoms develop between 1 – 6months
Management:
 85% of VSDs are so small they close spontaneously
  moderate in size may be closed during cardiac catheterization
 Larger ones (over 8 mm) require open heart surgery
 closure is important because if the defect is left open, cardiac failure from the artery hypertension
can result
o The heart can become infected (endocarditis) because of the recirculating blood flow.

o scheduled before 2 years of age to prevent pulmonary artery hypertension

o Postoperatively, be alert for arrhythmias because edema in the septum can interfere with
ventricular conduction.
o Children may receive prophylactic antibiotics to prevent bacterial endocarditis for 6 months
afterward
COARCTATION OF THE AORTA
 Narrowing of the descending aorta, which is typically located at the insertion of the ductus arteriosus.
 6% to 8% of patients with CHD
 Occurs more commonly in males than in females.
 The genetic component to coarctation has long been recognized in the Turner syndrome, in which
about 35% of patients are affected
Congenital
 The vast majority of coarctation cases are congenital.
the two main theories:
 Reduced antegrade intrauterine blood flow causing underdevelopment of the fetal aortic arch.
 Migration or extension of ductal tissue into the wall of the fetal thoracic aorta
 There is also increasing evidence of a vascular wall defect in the ascending aorta of individuals with
congenital coarctation of aorta
Acquired
 In addition to a congenital etiology, aortic narrowing can be an acquired abnormality due to
inflammatory diseases of the aorta, such as Takayasu arteritis or, rarely, severe atherosclerosis
 the former disorder, the midthoracic or abdominal aorta is often the site of involvement
 Obstruction of left ventricular outflow Þ LV afterload increases Þ pressure hypertrophy of the LV.
Manifestations:
Classic signs:
 diminution or absence of femoral pulses.
 Pulse discrepancy between R & L arms.
 Higher BP in the upper extremities as compared to the lower extremities.
 Sings of low cardiac output, poor peripheral perfusion – Lower extremities hypoperfusion, acidosis, HF
and shock
 Differential cyanosis if ductus is still open
  systolic ejection murmur
 Cardiomegaly, rib notching on X-ray
Management:
 interventional angiography (a balloon catheter) or surgery
 infants with coarctation of the aorta require therapy with digoxin and diuretics in the time before surgery
can be performed to avoid congestive failure
 Girls must have the defect repaired before childbearing age, or the extra blood volume during
pregnancy can cause heart failure. Surgical repair is usually scheduled, therefore, by 2 years of age. If
it will be successful, child will live a normal life.

PULMONARY STENOSIS
 is obstruction in the region of either the pulmonary valve or the sub pulmonary
ventricular outflow tract.
 Accounts for 7-10% of all CHD.
 Most cases are isolated lesions
 Can present w/ or w/o an intact ventricular septum
 Maybe biscuspid or fusion of 2 or more leaflets.
Hemodynamics
 RV pressure hypertrophy Þ RV failure.
 RV pressures maybe > systemic pressure.
 Post-stenotic dilation of main PA.
 W/intact septum & severe stenosis there is R-L shunt through PForamenOvale causing cyanosis.
 Cyanosis is indicative of Critical PS
PULMONARY STENOSIS: MANIFESTATIONS
 Most patients with valvar pulmonary stenosis are asymptomatic
 Depends on the severity of obstruction.
 Asymptomatic w/ mild PS < 30mmHg.
 Mod-severe: 30-60mmHg, > 60mmHg
 Prominent jugular a-wave, RV lift
 Split 2nd heart sound w/ a delay
 Ejection click, followed by systolic murmur.
 Heart failure & cyanosis seen in severe cases
AORTIC STENOSIS
 is an obstruction to the outflow from the left ventricle at or near the aortic valve that causes a
systolic pressure gradient of more than 10mmHg.
  Accounts for 7% of CHD.
 More dangerous lesion compared to PS
3 Types
 Valvular – Most common.
 Subvalvular(subaortic) – involves the left outflow tract.
 Supravalvular – involves the ascending aorta is the least common
Aortic Stenosis: Manifestations
 Mild AS: may present with exercise intolerance, easy fatigabiltity, but usually asymptomatic.
 Moderate AS: Chest pain, dypsnea on exertion, dizziness & syncope.
 Severe AS: Weak pulses, left sided heart failure, Sudden Death.
 LV thrust at the Apex.
 Systolic thrill @ Rt base/suprasternal notch.
 Ejection click, systolic murmur @ RSB/LSB w/ radiation to the carotids
Management:
 Stabilization with a beta-blocker or a calcium channel blocker may be necessary to reduce cardiac
hypertrophy before the defect is corrected
 Balloon valvuloplasty is the surgical treatment of choice
 Surgery that involves dividing the stenotic valve or dilating an accompanying constrictive aortic ring can
be used for severe defects
 Some children will need artificial valve replacement for correction
 If a prosthetic valve is used, children generally continue to receive anticoagulation or antiplatelet
therapy and antibiotic prophylaxis against endocarditis.

CYANOTIC DISORDER
 RIGHT to LEFT shunt to cause cyanosis.
 Congenital heart disease produces cyanosis when obstruction to right ventricular outflow causes
intracardiac right-to-left shunting.
 Complex anatomic defects cause an admixture of pulmonary and systemic venous return in the heart
 Decreased pulmonary blood flow
 Chest X-Ray
 Decreased pulmonary vascular markings
TETRALOGY OF FALLOT
 Most common cyanotic heart disease.
 The four abnormalities include:
o Pulmonary stenosis
 o RVH

o VSD

o Overriding Aorta

 Signs include cyanosis, murmur, squatting and tet spells.

 Increased resistance by the pulmonary stenosis causes deoxygenated systemic venous return to
be diverted from RV, through VSD to the overriding aorta and systemic circulation systemic
hypoxemia and cyanosis
TOF: Manifestations
 Symptoms are variable depending of degree of obstruction
 Cyanosis – is variable (isn’t present at the birth, occurs later in the 1st yr of life)
 Tet spells (Hypercyanotic ): irritability, cyanosis, hyperventilation and sometimes syncope or
convulsions due to cerebral hypoxemia
 Severe dyspnea on exertion
 Tachycardia
 Mental retardation
 Retarded growth and development
 RV hyperthrophy
 Systolic ejection murmur is heard along the left sternal border
Management:
 surgery to correct the heart defects, done at 1 to 2 years of age
 If a baby begins to have a hypoxic episode, administering oxygen, placing the baby in a knee–
chest position (to trap blood in the lower extremities and keep the heart from being
overwhelmed)
 Administering morphine sulfate generally reduces symptoms
 Propranolol (Inderal, a beta-blocker) may be given orally to aid pulmonary artery dilation
A temporary or palliative surgical repair, called the Blalock-Taussig procedure, can create a shunt
between the aorta and the pulmonary artery (creating a ductus arteriosus)
 This will allow blood to leave the aorta and enter the pulmonary artery, oxygenate in the lungs, and
return to the left side of the heart, the aorta, and the body.
 Because the subclavian artery is used in a Blalock-Taussig procedure, a child will not have a palpable
pulse in the right arm after this procedure.
 Blood pressure and venipunctures should be avoided in the affected arm-R ARM
full repair that relieves the pulmonary stenosis, VSD, and overriding aorta will then be scheduled (a Brock
procedure)
Postoperatively, observe for arrhythmias, which may result from any ventricular septal repair, edema, and
conduction interference
TRANSPOSITION OF GREAT ARTERIES
 The aorta arises from the right ventricle and the pulmonary artery from the left.
 The mixing of the blood occurs at the PFO and the PDA.
 The signs include cyanosis and cardiomegaly.
 There may be no murmur.
 An echocardiogram is diagnostic
Pathophysiology
 Cyanosis due to failure of delivery of pulmonary venous blood to the systemic circulation
 Two parallel circulations with no mixing
 Open atrial septum (fossa ovalis) allows some left-to-right shunt, enhanced by a left-to-right ductus
arteriosus shunt
 Presence of ventricular septal defect facilitates mixing
 Heart failure often present.
 Cardiac enlargement and diminished pulmonary artery segment on x-ray.
 Untreated, the vast majority of these infants would not survive the neonatal period
Manifestations
 Cyanosis, tachypnea are most often recognized within the 1st hrs or days of life.
 Hypoxemia is usually moderate to severe, depending on the degree of atrial level shunting and whether
the ductus is partially open or totally closed.
 Physical findings, other than cyanosis, may be remarkably nonspecific.
 Murmurs may be absent, or a soft systolic ejection murmur may be noted at the midleft sternal border
Management:
 If no septal defect exists or if the defect is too small to allow enough mixing of blood to sustain life,
PGE1, a prostaglandin, will be administered to keep the ductus arteriosus patent.
 A balloon atrial septal pull-through operation to enlarge the septal openings may also need to be done
in the infant’s first few days
 Surgical correction of transposition of the great vessels, done at 1 week to 3 months of age, involves
an arterial switch procedure in which the major vessels are switched in position

TRUNCUS ARTERIOSUS
 rare type of heart disease in which a single blood vessel (truncus arteriosus) comes out of the right and
left ventricles, instead of the normal 2 vessels (pulmonary artery and aorta)
 there is usually a hole — known as a ventricular septal defect — between the two lower chambers of
the heart.
Truncus Arteriosus: Manifestations
 Blue coloring of the skin (cyanosis)
  Poor feeding
 Pounding heart
 Excessive sleepiness
 Poor growth
 Shortness of breath (dyspnea)
 Rapid breathing (tachypnea)
ACQUIRED HEART DISORDERS
KAWASAKI DISEASE
 Most common cause of acquired heart disease
 Kawasaki disease (mucocutaneous lymph node syndrome) is a febrile, multisystem disorder that
occurs almost exclusively in children before the age of puberty. It has replaced rheumatic fever
as the most likely cause of acquired heart disease in children. The peak incidence is in boys under
4 years of age.
 The incidence is higher in late winter and spring. Vasculitis (inflammation of blood vessels) is the
principal (and life-threatening) finding because it can lead to formation of aneurysm and myocardial
infarction
Tests:
 CBC, CRP(C-reactive protein(CRP) , ESR (erythrocyte sedimentation rate), Ecg, ECHO
 Rx – IVIG IV immune globulin at 2g/kg
 high-dose ASA-decreases inflammation and blocks platelet aggregation.
 Prognosis – Coronary artery dilatation in 15-25% w/o IVIG and 4% w/ IVIG (if given within 10 days of
fever onset).
 Risk of coronary thrombosis
Clinical Criteria
Fever for at least 5 days AND 4 of the following 5 criteria:
o Eyes - conjunctival infection/ conjunctivitis (ie- no exudate)

o Lips & mouth - erythema, cracked lips, strawberry tongue

o Hands & feet - edema and/or erythema

o Skin - polymorphous exanthem (ie- any rash)

o Unilateral, cervical lymphadenopathy

RHEUMATIC FEVER
 Rheumatic fever is an autoimmune disease that occurs as a reaction to a group A beta-hemolytic
streptococcal infection
 Inflammation from the immune response leads to fibrin deposits on the endocardium and
valves, in particular the mitral valve, as well as in the major body joints.
 Follows GAS pharyngitis by 3 weeks (vs. nephritogenic strains of GAS)
  Injury by GAS antibodies cross-reacting with tissue
 Dx – JONES criteria (major and minor)
 Tests – Throat Cx, ASO( Antistreptolysin O) titer, CRP, ESR, ECG, +/- ECHO
 Treatment – Penicllin x10 days and high-dose ASA or steroids
 Secondary Prophylaxis – daily po Penicllin or monthly IM Penicllin
Affected Organs:
 Heart muscle & valves – myocarditis & endocarditis (pericarditis rare w/o the others)
 Joints – polyarthritis
 Brain – Sydenham’s Chorea (“milkmaid’s grip” or better yet, “motor impersistance”)
 Skin – erythema marginatum (serpiginous border) due to vasculitis
 Subcutaneous nodules – non-tender, mobile and on extensor surfaces
MANGEMENT:
 The full course of rheumatic fever is 6 to 8 weeks. Children are maintained on bedrest only during the
acute phase of illness or until congestive heart disease is not present, the ESR decreases, and the C-
reactive protein level and pulse rate return to normal.
 Monitoring vital signs is essential during the acute phase (APICAL PULSE)

COMMON COGENITAL DISEASE IN GI

CLEFT LIP AND PALATE

 CLEFT is a crack, fissure, split or gap.
 Cleft lip and palate is a congenital birth defect which is characterized by complete or partial cleft of
lip and/or palate
 Not life threatening unless associated with other syndrome
 Severity may vary from trace of notching of upper lip to complete non fusion of lip, primary palate and
secondary palate
CLEFT LIP
 A cleft lip is an opening or split in the upper lip that occurs when developing facial structures in an
unborn baby don't close completely. Cleft lip may be unilateral or bilateral. A baby with a cleft lip may
also experience a cleft in the roof of the mouth (cleft palate).
 Fusion of the maxillary and nasal processes occurs between 5-8wks
 Ranges from a small notch in the upper lip to a total separation of the lip and facial structure up into the
floor of the nose
 May be unilateral or bilateral
 More prevalent among boys than girls
 1 in 700 live births
CLEFT PALATE
 Opening of the palate
 Closure of palatal shelves (formed from palatal process) closes at about 9-10wks
 Usually midline and may involve just the anterior hard palate or posterior soft palate (partial) or both
(complete)
 Separate or occurs with cleft lip
 More common in girls
 1 in 1000 live births
Isolated Cleft Palate
 Separate entity
 Strong genetic influence
 Common in girls mild notching of tip of uvula to cleft extending the soft palate alone or into secondary
hard palate up to incisive foramen
 Associated with pierre robin syndrome
Submucous Cleft Palate
 Present on palate as bony defects but covered with oral mucosa
 The submucosal clefts most often affect the posterior part of the palate at the posterior nasal spine.
Etiology (Cleft Lip and Palate)
 Heredity: 1 in 3 children with clefts had some relatives with similar congenital defects
 Environment: can be divided into 4 categories
o Womb environment

o External environment

o Nutrition- micronutrient and folic acid deficiencies

o Drugs: Anti-abortifacient drugs, Anti emetics, Antiepilectic drugs (phenytoin, valproic acid),
Thalidomide, Dioxin, retinoic acid, maternal alcohol use, and maternal cigarette smoking
 Multifactorial: Recent studies show that etiology of cleft lip and palate cannot be attributed solely to
either genetic or environmental factors.
Predisposing Factors
 Increased maternal age: women who conceive late have increased risk of having off springs with clefts
 Racial: Mongoloids have greatest incidence of clefts
 Blood supply: Any factor that reduces blood supply to nasomaxillary areas during embryological
development predisposes to clefts
Diagnosis
 Ultrasonography and 3D ultrasonography enable utero diagnosis of clefts especially in 3rd
trimester
Importance of Early Diagnosis
 Time for parent education on the management of the baby to be born.
 Allows psychological preparation of the parents and allow them to have realistic expectations.
 It gives opportunity to investigate the presence of other chromosomal abnormalities.
 Gives parent the choice of continuing the pregnancy
 Helps in getting prepared for the neonatal feeding and care.
 Opportunity for fetal surgery

Problems associated with Clefts

 Dental problems
o Congenitally missing teeth( mostly upper lateral incisors)

o Presence of supernumerary, neonatal and natal teeth

o Ectopically erupted tooth

o Enamel hypoplasia

o Microdontia, macrodontia

o Fused teeth

o Gemination, dilaceration

o Posterior and anterior cross bite

o Deep bite

o Spacing/ crowding

o Protruding premaxilla

 Esthetic problems
o Facial disfigurement

o Orofacial structures can be malformed and congenitally missing

 Deformities of nose can also occur

 Psychological problems
o Patients are under a lot of psychological stress

 Hearing and speech problems

 Children with cleft often have associated speech and language disorder.
o Assessment of speech therapist is required as early as 9 months of age
 o Patient with delayed development of speech may have receptive language problems that
arise because of the collection of fluid in middle ear
o Hearing loss may also occur due to ossicular malformation

Schedule of Cleft Treatments

 Birth to 1 month: Initial assessment, Presurgical orthopedics
 3 months: Primary lip repair
 6 to 18 months: Palate repair
 2 years: Speech assessment
 4-6 years: Lip revision surgery
 8-9 years: Initial interventional orthodontics in preparation for alveolar bone grafting; Continuing speech
therapy
Care Immediately after birth
 Feeding and psychological problems are the biggest issues.
 A cleft lip or palate makes feeding of baby more difficult.
 The major problems with feeding a baby with cleft are problems with sucking and with formula
coming through the nose.
 Risk of aspiration and airway obstruction which may lead to acute asphyxia in children
 Specialized feeding bottles such as Haberman feeder and Mead Johnson bottle are helpful for feeding
difficulties (Haberman Feeder; Mead Johnson Bottle)

ABDOMINAL WALL DEFECTS

OMPHALOCELE
 a protrusion of abdominal contents through the abdominal wall at the point of the junction of
the umbilical cord and the abdomen
 Due to failure of the midgut to return to abdomen by the 10th week of gestation during midgut rotation
Risk Factors
 Increased maternal age
 Twins
 High gravida
 Consecutive children
Manifestations
 Central defect of the abdominal wall beneath the umbilical ring.
 Defect may be 2-12 cm (Small-<5cm)(Large>8cm)
  Always covered by sac
 Sac is made of amnion, Wharton’s jelly and peritoneum
 The umbilical cord inserts directly into the sac in an apical or lateral position.
 Small contains intestinal loops only. Large may involve liver, spleen and bladder, testes/ovary
 >50% have associated anomalies
Diagnosis
 Alpha-feto-protein- synthesized in fetal liver and excreted by fetal kidneys and crosses placenta by 12
weeks.
 Elevated maternal AFP - neural tube defects, abdominal wall defects, duodenal or esophageal atresia
 Fetal ultrasound after 14 weeks gestation is the confirmatory test
Management: Omphalocele
 Most infants will have surgery within 24 hours to replace the bowel before the thin membrane
surrounding it ruptures or becomes infected.
 Primary Closure
 Small defects (<4cm)
 excision of the sac and closure of the fascia and skin over the abdominal contents
 Mesh patch
 Medium defects (6-8cm)
 Post-operative Care
 NICU
 Ventilation
 Feeding: Minimal volume
 Antibiotics
 Hernia dealt with at 1 yr old
GASTROSCHISIS
 similar with omphalocele, but the defect is a distance from the umbilicus and the abdominal organs
not contained by peritoneal membranes rather spill freely from the abdomen
 Failure of migration and fusion of the lateral folds of the embryonic disc on the 3rd-4th week of
gestation.
 Disruption of the right omphalomesenteric artery as midgut returns to abdomen by the 10th week
causing ischemia of the abdominal wall and weakness then herniation.
Risk Factors
 Young maternal age
 Low gravida
 Prematurity
  Low birth-weight secondary to IUGR
Manifestations
 Defect to the right of an intact umbilical cord allowing extrusion of abdominal content
 Umbilical cord arises from normal place in abdominal wall
 Opening <=5 cm
 No covering sac (never has a sac )
 Evisceration usually only contains intestinal loops
 Bowels often thickened, matted and edematous
 10-15% have associated anomalies
 40% are premature/SGA
Management
 Perinatal Management
 Maternal Screening
 Fetal Ultrasound = positive findings
 Alpha-feto-protein elevated = 90% Omphalocele, 10% Gastroschisis
 Sterile wrap or sterile bowel bag; Radiant warmer
 When bowel obstruction is confirmed, an orogastric or a nasogastric tube is inserted and then attached
to low suction or left open to the air to prevent further gastrointestinal distention from swallowed air
 Fluid Management-restore fluid, and immediate surgery is scheduled because bowel obstruction is an
emergency that must be treated before dehydration, electrolyte imbalance, or aspiration of vomitus
occurs
 Nutrition: TPN (central venous line)
 Abdominal Distention: OG/NG tube; urinary catheter
 Infection Control: Broad-spectrum antibiotics - Ampicillin and Gentamycin
 Closure of the Defect-Repair of the obstruction is accomplished by laparoscopy or through an
abdominal incision. The area of stenosis or atresia is removed, and the bowel is anastomosed
o Feeding delayed for weeks

o Oral stimulation/sucking reflex

o At 3-6 months re-surgery

 Broad spectrum antibiotics

Long Term Outcomes
Omphalocele
Small - recover well
Large:
 Gastro-oesophageal reflux - 43%
  Majority improve over time
 20% pulmonary insufficiency
 Respiratory Infections
 Asthma
 Feeding difficulties
 60% with giant omphalocele: May need gastrostomy for feeding
 Failure to thrive
Gastroschisis
 Generally excellent if no atresia
 NEC:
o 5% of neonates more with formula

o Bowel loss - short gut syndrome

SKELETAL DEVELOPMENTAL DISORDERS

FINGER AND HAND CONDITIONS

 Of the 1% to 2% of babies born with congenital defects, 10% are born with malformations to the hand.
 These anomalies occur in early pregnancy and are sometimes diagnosed by ultrasound during
pregnancy.
 When they are not, they often come as a surprise to parents.
 The cause of congenital hand anomalies is unknown
Challenges or Complications
 Depends on the type and extent of a hand malformation
 May face various challenges as they grow and learn:
o Developmental problems such as delayed or deficient motor skills

o Difficulties with activities of daily living activities and basic self-care skills

o Limitations on certain types of exercises and sports

o Potential emotional and social harm from childhood teasing about appearance

POLYDACTYLY (EXTRA DIGITS)

 Most common congenital hand deformity
 Affects boys and girls equally
 More than five fingers on one hand.
 An extra finger is often a small piece of soft tissue that can be simply removed.
  Sometimes, the extra finger contains bones but not joints.
 Very rarely, the extra finger is a fully functioning digit.
 A baby may be born with several extra fingers
PREAXIAL POLYDACTYLY:
Involves having an extra thumb. It is more common in Caucasians.
POSTAXIAL POLYDACTYLY:
Involves having extra fingers on the opposite (the "pinkie" side). It is more common in African-Americans.
These may occur as complete, separate fingers or just as small stumps.
CENTRAL POLYDACTYLY:
Extra fingers can be located between center fingers, although this is less common
SYNDACTYLY (FUSED FINGERS)
 Occurs when two or more fingers fail to separate when a baby is in the womb—resulting in
"webbed" fingers at birth
 Usually involves the middle and ring fingers.
 Syndactyly affects twice as many boys as girls.
 There is often a family history, and these cases often involve both fingers and toes.
COMPLETE SYNDACTYLY:
The skin is fused all the way to the tip of affected fingers or toes.
INCOMPLETE SYNDACTYLY:
The fingers or toes are joined only part of the way to the tips
SIMPLE SYNDACTYLY:
 The fingers or toes are joined by skin and soft tissue only.
 Can be complete or incomplete
COMPLEX SYNDACTYLY:
 The bones of fingers next to each other are fused.
SYMBRACHYDACTYLY (UNDERDEVELOPED HAND)
 Have small or missing fingers.
 May have webbed fingers or a short hand or forearm
MILD SYMBRACHYDACTYLY:
 The hand has slightly short, mobile fingers with minor webbing. The hand bones and some of the finger
bones and the thumb are present.
MODERATE SYMBRACHYDACTYLY:
 Most or all of the finger bones are missing, and the baby has small projections of skin and soft tissue.
The thumb is usually present, but it may be short.
SEVERE SYMBRACHYDACTYLY:
  The baby has either a partial thumb or no thumb and no fingers
CLUB HAND
 Radial club hand (radial dysplasia)
 short forearm and wrist curved toward the thumb side. At 6 and 12 months of age, surgery may be
recommended to straighten the forearm bone and to fix the tendons.
 May also be related to other medical syndromes such as Fanconi anemia, Holt-Oram syndrome, and
VATER syndrome.
ULNAR CLUB HAND
 Less common than radial club hand
 Usually unrelated to other syndromes.
 Can range from mild to more severe cases with the baby's wrist to be in a fixed and bent position
toward the little-finger side of the hand.
 The thumb by be deformed or absent
ECTRODACTYLY (CLEFT HAND)
 Split hand
 When the middle part of the hand develops abnormally.
 Babies with this condition are missing one or more central fingers on the hand
Management: Hand and Finger Conditions
 GOAL: Help a child function as independently as possible.
Treatment may involve:
 Orthotics (splints or braces)
 Prosthetics (artificial limbs)
 Physical therapy
 Surgery
TALIPES EQUINOVARUS (CONGENITAL CLUBFOOT)
 Complicated, multifactorial deformity of primarily genetic origin
3 basic componets
 ankle joint plantarflexed/equines
 subtalar joint inverted/varus
 forefoot adducted
Incidence
 approx 1/1,000 live births
 usually sporadic
 bilateral deformities occur 50%
Etiology
 unknown
 defect in development of talus leads to soft tissue changes in joints, or vice versa
Diagnosis/Evaluation
 distinguish mild/severe forms from other disease
 AP/Lat standing or AP/stress dorsiflex at films
TREATMENT
Non-surgical
 weekly serial manipulation and casting
 must follow certain order of correction
 success rate 15-80%
Surgical
 majority do well; calf and foot is smaller
DEVELOPMENTAL DYSPLASIA OF THE HIPS (DDH)
 A spectrum of disorders of development of the hip that present in different forms at different ages
 May occur at any time, from conception to skeletal maturity
 7x more common in females
 More specifically a group of terms are used to describe the condition: Subluxation, Dislocation,
Instability, Teratologic Dislocation
Risk Factors:
 GENETIC: hereditary predisposition, generalized joint laxity and shallow acetabula
 HORMONAL: common in females, maternal relaxin, high estrogen and progesterone aggravate laxity
 INTRAUTERINE MALPOSITION: breech position or oligohydramnios favor‘s dislocation
 First born child (primigravida)
DDH: Manifestations
 Detected at birth or soon after child starts walking
 Birth – routine screening or suggestive signs in every newborn especially those at high risk
 Early childhood – asymmetry of groin fold, click, limitation of movement
 Older child – peculiar gait, no pain
 Limitation of hip abduction, limb short and externally rotated
 High buttock fold, asymmetric thigh fold, lordosis of lumbar spine
DIAGNOSIS: CLINICAL TESTS
 Barlow's test
 o Barlow maneuver identifies the unstable hip that is in a reduced position that the clinician can
passively dislocate
 Ortolani ‘s test
o Performed following Barlow's test to determine if the hip is actually dislocated

 Ultrasound
 MRI
 CT
 X-rays
Management:
 Aim is to achieve reduction of the head into the acetabulum and maintain it until the hip becomes
clinically stable and a round acetabulum covers the head.
 Most cases closed reduction is possible, else open reduction is done.
o Splintage

 Birth to 6 months
 The objective of splintage is to hold the hips somewhat flexed, abducted and to maintain
reduction.
 Von Rosen's splint is a H-shaped splint
 The Pavlik harness is more difficult to apply but gives the child more freedom while still
maintaining position.
 6-8 months
o

 Held in a plaster Spica at 60 degrees of flexion, 40 degrees of abduction and 20 degrees

of internal rotation.
 After 6 weeks the Spica is changed and stability assessed
 If satisfactory, Spica retained for 6weeks, then abduction splint for 6months
 If concentric reduction is not achieved, open reduction is done.

CHROMOSOMAL DISORDERS
GENETIC DISORDERS
 Disease that is caused by an abnormality in an individual's DNA.
 Abnormalities can range from a small mutation in DNA or addition or subtraction of an entire
chromosome or set of chromosomes.
 Most Genetic disorders are quite rare and affect one person in every several thousands or millions.
 Genetic disorders may resultsby:
o Point mutation, or any insertion/deletion entirely inside one gene
 o Deletion of a gene or genes

o Whole chromosome is extra, missing, or both

Types of Inherited Disorders

 Autosomal Disorder
o Autosomal Dominant

o Autosomal Recessive

 Allosomal Disorder
o X- linked dominant

o X- linked recessive

o Y- linked

 Mitochondrial Disorder

AUTOSOMAL DISORDERS
 Disorders related to Autosomes
 An autosome or somatic chromosomes carry genes which determine the somatic characteristics and do
not have any influence on determining the sex of the individual.
 Autosomes appear in pairs
 Humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46
chromosomes total).
 Examples of Autosomal disorder: Downs syndrome, Haemophilia, Sickle cell anemia
Autosomal Dominant
 If the disorder is Autosomal dominant only one infected gene from any one parent is enough to cause
the disease in the child.
Autosomal Recessive
 If the disorder is Autosomal recessive there should be transfer of both affected genes from both the
parents to cause the disease. If gene from only one parent is transferred then the child becomes a
carrier but does not get the disease.

CONDITIONS CAUSING AUTOSOMAL DISORDERS

TRISOMY
 Type of polysomy in which there are three instances of a particular chromosome, instead of the
normal two.
 A trisomy is a type of aneuploidy (an abnormal number of chromosomes)
 The most common types of autosomal trisomy that survive to birth in humans are: Trisomy 21
(Down syndrome); Trisomy 18 (Edwards syndrome); Trisomy 13 (Patau syndrome)
TRISOMY 21: DOWN SYNDROME
  a chromosomal condition caused by the presence of all or part of an extra 21st chromosome.
 It is named after John Langdon Down, the British physician who described the syndrome in 1866. The
condition was clinically described earlier in the 19th century by Jean Etienne Dominique Esquirol in
1838 and Edouard Seguin in 1844.
 Down syndrome was identified as a chromosome 21Trisomy by Dr. Jerome Lejeune in 1959.
 The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ
of 100.
 With extra genetic material in chromosome 15; 47 chromosomes
AUTOSOMAL DELETION
 Autosomal: involves one of the numbered (ie, non-sex chromosomes)
 Deletion: an abnormality of DNA that involves missing material. These can range from very small (as
little as 1 base pair) to very large (involving millions of base pairs of DNA)
 Most common: Wolf-Hirschhorn Syndrome, Cri Du Chat, Langer Giedion Syndrome

CRI DU CHAT SYNDROME

 Chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome.
 Is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term (cat-cry or
call of the cat) referring to the characteristic cat-like cry of affected children.
 It was first described by Jerome Lejeune in 1963. The condition affects an 1 in 50,000 live births, strikes
all ethnicities, and is more common in females by a 4:3 ratio.
 DELETION on the short arm of chromosome 5.
 Cries like a CAT
Features:
 Excessive Drooling
 Behavioral Problems
 Often Mental Retarded
 Exhibits Gastorintestinal and Cardiac Complications
 Abnormal Development of Larynx and Glottis
ALLOSOMAL DISORDERS
 Inherited disorders which are related to sex chromosomes
 Allosomes are sex chromosomes which carry genes responsible for sexual characteristics and as such
have a significant role in the determination of sex.
 Examples: Kleinfelter’s syndrome, Turners syndrome
 Types: X- linked dominant; X- linked recessive; Y-linked
MITOCHONDRIAL DISORDERS
 It is a disorder caused by mutations (or changes) in either mitochondrial DNA or nuclear DNA.
 If there is mutation in the genes that code for mitochondrial proteins, decreased ATP production leads
to energy failure of the cell and eventually, to the organ.
 These are only passed on from mother since mitochondria is absent in spermatozoa.
 Frequency: 1 in 4000.