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Chapter 16
The Newborn at Risk:
Acquired and Congenital Conditions
Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.
1
Objectives




Define key terms listed.
Discuss the prenatal diagnosis of Down
syndrome.
Recognize three out of four genetic inborn
errors of metabolism.
Compare the metabolic disorders
hypoglycemia, maple syrup urine disease,
hypothyroidism, and phenylketonuria; their
effect on the newborn; and the nursing
implications.
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2
Objectives (cont.)


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Describe common congenital anomalies.
Interpret signs associated with elevated
bilirubin in the newborn.
Explain the nursing interventions used in
phototherapy.
Articulate the principles of newborn
resuscitation.
Outline the common respiratory problems in
the newborn.
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3
Birth Defects

An abnormality of structure, function, or
metabolism may result in a physical or mental
disability, may shorten life, or may be fatal
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4
Classification of Birth Defects


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Malformations present at birth
Metabolic defects (body chemistry)
Blood disorders
Chromosomal abnormalities
Perinatal injury
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5
Chromosomal Disorders
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Chromosomal Disorders

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Abnormal chromosome number or
arrangement can cause congenital defect
May receive too little or too much genetic
material
As embryo develops, genetic information is
“scrambled” and may translate into a variety
of congenital defects
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7
Down Syndrome

Trisomy 21 (extra chromosome)
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
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Most common chromosomal syndrome
Mothers older than 35 have higher incidence
First trimester screening: ultrasound
assessment of thickness of fetal nuchal fold
Second trimester screening: absence of nasal
bone or “quad test” of blood for alphafetoprotein (AFP), human chorionic
gonadotropin (hCG), unconjugated estriol
(UE), and inhibin A
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8
Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.
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Characteristics of
Down Syndrome

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Craniofacial abnormalities
Straight simian crease in palm
of hand
Mental retardation with IQ
around 50
Females are fertile; males are
usually infertile
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10
Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.
11
Inborn Errors of Metabolism


May not always manifest at birth
Screening tests important for early detection
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12
Phenylketonuria (PKU)

Autosomal-recessive, inherited inborn error of
phenylalanine
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
Faulty metabolism of an amino acid essential to
life and found in all protein foods
Hepatic enzyme phenylalanine hydrolase, which is
needed to convert phenylalanine to tyrosine, is
missing
Once infant ingests proteins, phenylketones
accumulate in blood and then in brain
Can result in pronounced brain damage
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13
Phenylketonuria (PKU) (cont.)


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Diagnosed by Guthrie test
Best if blood obtained after infant has
ingested protein
Treatment is with phenylalanine-restricted
diet

Goals of diet are to provide essential proteins to
support growth and development and keep
phenylalanine blood levels between 2 and 10
mg/dL
• Less than 2 mg/dL can cause growth retardation
• More than 10 mg/dL can cause brain damage
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14
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15
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16
Galactosemia
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
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Deficiency in enzyme needed to convert
galactose to glucose
Can cause failure to thrive, cataracts,
jaundice, cirrhosis of liver, sepsis, and mental
retardation
Breastfeeding is contraindicated due to the
lactose
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17
Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.
18
Hypothyroidism
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Caused by maternal iodine deficiency or use
of antithyroid drugs
If not treated with thyroid replacement,
hypothermia, poor feeding, lethargy, jaundice,
and cretinism can occur
Infant has large protruding tongue, thick lips,
and a dull appearance
Testing for hypothyroidism is mandated
nationwide
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19
Maple Syrup Urine Disease

The amino acids leucine, isoleucine, and
valine cannot be metabolized due to missing
enzymes


Elevated levels of leucine cause cerebral edema
and CNS symptoms
Body fluids have a sweet odor
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20
Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.
21
Common Congenital Anomalies
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Cleft lip and palate
Esophageal atresia
Spina bifida
Hydrocephalus
Developmental dysplasia of the hip
Clubfoot
Patent ductus arteriosus
Tetralogy of Fallot
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22
Hyperbilirubinemia
(Physiologic Jaundice)

Physiologic jaundice; icterus neonatorum
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Metabolism and excretion of excess waste
products, liver immaturity, delayed feeding,
trauma, or cold stress
Can also occur due to cephalohematoma,
extensive bruising, infections, acidosis
Typically occurs third day of life and peaks
around fifth day
Total serum bilirubin level over 12 mg/dL
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23
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24
Hyperbilirubinemia
(Physiologic Jaundice) (cont.)
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
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Skin and whites of eyes assume yelloworange cast
The higher the bilirubin, the deeper the
jaundice
Conjugation of bilirubin inhibited by lack of
bacteria in intestines or low levels of
glucuronyl transferase enzyme
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25
Hyperbilirubinemia
(Physiologic Jaundice) (cont.)
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High levels of bilirubin can stain basal nuclei
of brain and cause kernicterus
Stimulation of meconium stool passage
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Early feedings enhance passage
Colostrum in breast milk has natural laxative effect
Glucose water avoided, since little bilirubin is
excreted and can increase absorption of
bilirubin due to retained stool
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26
Assessment of
Physiologic Jaundice
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Blanch test
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Yellow tinge appears
Head-to-toe progression of jaundice
The more of the body that is yellow-orange,
the higher the bilirubin level
Serum test for blood levels
Transcutaneous measuring via hand-held
device
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27
Hyperbilirubinemia
(Pathologic Jaundice)
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
Hemolytic disease – excessive breakdown of
RBCs due to maternal antibodies passing
through placenta to fetus
Isoimmune hemolytic disease
(erythroblastosis fetalis)

Rh– mother pregnant with Rh+ fetus
 Transplacental passage of maternal antibodies
 Fetal system responds by increasing RBCs, and
many are immature
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28
Hyperbilirubinemia
(Pathologic Jaundice) (cont.)
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
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At birth, newborn with hemolytic disease
caused by Rh incompatibility will have a
positive direct Coombs’ test
Reveals presence of antibody-coated
(sensitized) Rh-positive RBCs in newborn
Indirect Coombs’ test measures amount of
Rh-positive antibodies in mother’s blood
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29
Management of
Jaundiced Newborn
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Goal is prompt identification of newborns at
risk for jaundice and early implementation of
treatment to prevent development of
kernicterus
Newborn hyperbilirubinemia considered
pathologic if jaundice is evident within first 24
hours of life
Clinical jaundice persists for more than 14
days
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Clinical Signs of Kernicterus
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Temperature instability
Poor feeding
Decreased muscle
tone
Poor Moro reflex
Lethargy
High-pitched cry
Rigidity
Irritability
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Opisthotonos
position
Seizures
Upward gaze
Dark urine
Light stools
Apnea and seizures
possible in preterm
newborns
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Phototherapy
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
Blue light spectrum
decreases bilirubin levels
Converts unconjugated
bilirubin into isomers
called photobilirubin,
which is transported to
liver, where it combines
with bile and is excreted
in feces and some in
urine
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Blood Exchange Transfusion
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May be indicated if bilirubin level greater than
25 mg/dL
Alternately, remove small amount of
newborn’s blood from umbilical vessels and
replace with donor blood
Rh-negative blood is used
Observe for transfusion reaction
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Jitteriness
Seizures
Edema
Signs of fluid overload
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35
RhoGAM
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
Prevents erythroblastosis fetalis
IM injection given to an Rh-negative mother
within 72 hours of delivery of an Rh-positive
newborn, provided she has not been
previously sensitized

Can also be given at 28 weeks gestation
• Need RhoGAM also after an abortion, after
amniocentesis, or if bleeding occurs during pregnancy
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36
Hypoglycemia



Two consecutive low values on blood taken
30 minutes apart
Plasma glucose less than 25 mg/dL usually
treated with IV glucose
Newborns of diabetic mothers at risk for
hypoglycemia when insulin levels remain high
and glucose from placenta is decreased
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37
Signs of Hypoglycemia
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Lethargy
Hypotonia
Jitteriness
Poor feeding
Tachypnea
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Apnea
Sweating
Shrill cry
Low temperature
Seizures
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38
Copyright © 2012, 2008 by Saunders, an imprint of Elsevier Inc.
39
Respiratory Disorders
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Respiratory distress syndrome
Meconium aspiration syndrome
Transient tachypnea of the newborn
Persistent pulmonary hypertension of the
newborn
Sepsis
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40
Respiratory Distress Syndrome
(RDS)





Hyaline membrane disease
Major cause of newborn morbidity and death
Impaired or delayed surfactant key role
Hypoxemia, metabolic acidosis, pulmonary
vasoconstriction
Decreased ability to exchange oxygen and
carbon dioxide and remove metabolic waste
products
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41
Respiratory Distress Syndrome
(RDS) (cont.)



Initially see tachypnea, nasal flaring,
subcostal and intercostal retractions,
cyanosis, and respiratory grunting
Signs usually appear within 1 hour of birth
Silverman-Anderson index looks at

Chest and abdominal movement
 Intercostal spaces
 Xiphoid area
 Nares
 Expiratory sound
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42
Respiratory Distress Syndrome
(RDS) (cont.)
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

Avoid preterm birth
If necessary, mother is given corticosteroids
to stimulate fetal lung production of surfactant
After birth, administration of surfactants by
trachea to newborn
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44
Meconium Aspiration Syndrome

Fetal physical response to asphyxia in utero,
causing



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
Increased intestinal peristalsis
Relaxation of anal sphincter
Passage of meconium into amniotic fluid
Fetus experiences hypoxia; gasping
movements draw meconium into fetal airways
Rarely occurs in fetuses younger than 34
weeks gestation
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45
Meconium Aspiration Syndrome
(cont.)

Obstruction of large or upper airways leads to
hypoxic emergency



Meconium in lungs cause a ball-valve action
Air is allowed in but cannot escape
Causes

Overdistention of alveoli
 Leads to alveolar rupture
 Pulmonary air leaks
 Chemical inflammation
 Atelectasis
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46
Persistent Pulmonary
Hypertension of the Newborn
(PPHN)

Combination of pulmonary hypertension and
persistence of right-to-left shunting in the
heart


Fetal circulation persists even after delivery (also
called persistent fetal circulation)
Could be due to single entity or main
component of meconium aspiration
syndrome, pneumonia, sepsis, or
diaphragmatic hernia
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47
Transient Tachypnea
of the Newborn (TTN)

Seen more in cesarean births
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Respiratory rate increases to help rid lungs of
retained fluid
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
May be a result of insufficient thoracic squeeze
Results in retained fetal lung fluid
Between 100 and 140 breaths/min
Will show expiratory grunting, nasal flaring,
and mild cyanosis
Usually self-limiting
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48
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49
Common Congenital Defects


Associated with uncontrolled hyperglycemia
throughout pregnancy
Defects include



Congenital heart defects
Tracheoesophageal fistulas
CNS anomalies
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50
Audience Response System
Question 1
Decreased ability to exchange oxygen and
carbon dioxide and remove metabolic waste
products indicates the infant has what type of
syndrome?
A.Hypothryoidism
B.Respiratory distress
C.Phenylketonuria
D.Maple syrup urine
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51
Effects on the Newborn’s
Metabolism
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52
Objectives




Characterize the effect of maternal diabetes
on the newborn.
Outline six problems of infants born to
mothers with diabetes mellitus.
Explain factors responsible for newborn
sepsis, and state the nurse’s role in reducing
the risks.
Discuss the nursing assessment that would
lead the nurse to suspect newborn sepsis.
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53
Objectives (cont.)
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
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Identify the defects involved in the tetralogy of
Fallot and common manifestations.
Compare the alteration of blood flow of
cyanotic and noncyanotic congenital heart
defects.
Explain the pathophysiology of noncyanotic
congenital heart defects.
Describe care of the newborn who has
neonatal abstinence syndrome.
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54
Infants of Diabetic Mothers


Long-term diabetic mothers
May have deficient nutrients as a result of
decreased blood flow reaching fetus


Hypertension can further compromise
uteroplacental blood flow
Can cause fetal growth restriction and/or death
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55
Infants of Diabetic Mothers
(cont.)

Increased risk of respiratory distress
syndrome


High levels of insulin interfere with production of
surfactant
Hypoglycemia after birth

Blood glucose less than 40 mg/dL in term
 Blood glucose less than 30 mg/dL in preterm
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56
Infants of Diabetic Mothers
(cont.)

Potential complications

Polycythemia
 Hyperbilirubinemia
 Hypocalcemia
 Respiratory distress
 Macrosomia
 Birth defects
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57
Neonatal Sepsis


Infection occurring within the first month after
birth
Diagnosis is based on clinical presentation
and positive blood cultures

Most common organisms are Staphylococcus
aureus, Staphylococcus epidermidis, Escherichia
coli, Haemophilus influenzae, and group B
streptococci
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58
Neonatal Sepsis (cont.)

Neonate may initially be seen with

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
Poor feeding
Vomiting
Diarrhea
Lethargy
May later show



Cyanosis
Jaundice
Hypothermia
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59
Prevention of Neonatal Sepsis



Starts prenatally with maternal screening
Sterile technique maintained through delivery
Prophylactic antibiotics to newborn’s eyes
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Management of Neonatal Sepsis


Cultures of blood, urine, stool, spinal fluid,
and, in some case, IV catheter tips
Cultures from areas with drainage (e.g., eyes
and umbilical stump)
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61
Newborn with Effects of Maternal
Substance Abuse


Newborn may display various physical and
neurobehavioral manifestations
May be small for gestational age or have
congenital anomalies due to maternal
substance abuse
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62
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63
Signs of Neonatal
Abstinence Syndrome
Respiratory
Distress
Stuffy nose
Tachypnea
Flaring of nares
Retractions
Apnea
GI
Dysfunction
Diarrhea
Vomiting
Frantic sucking
Poor feeder
CNS
Shrill, highpitched cry
Irritability
Hypertonicity
Tremors
Short sleep
cycles
Occasional
seizures
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Other
Sweating
Fever
Sneezing
Yawning
Mottled color
Abrasions of
elbows and
knees
64
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65
The Nurse and the
Family of the Newborn at Risk

Role of the nurse

To provide support by helping parents recognize
reality of problem
 Establish trust in health care provider
 Dispel misconceptions
 Mobilize family support systems
 Help parents participate in newborn care where
possible
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66
Discharge Planning
and Home Care



Begins as soon as disorder or problem is
identified
Multiple disciplines are involved in the
discharge planning and teaching process
Requires parental competence with the
various equipment, supplies, and care
techniques that may be required
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67
Audience Response System
Question 2
Discharge to the home setting for a
newborn at risk requires:
A.
B.
C.
D.
Multidisciplinary team management
Parental competence
Approval from the insurance company
Support and encouragement
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68
Review Key Points
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69