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Chapter 14Chapter 14
The Newborn with a CongenitalMalformation
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Birth DefectsBirth Defects
z Abnormalities that are apparent at birth
z The abnormality may be of
Structure
Function
Metabolism
z May result in a physical or mental disability,
may shorten life, or may be fatal
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Classifications of Birth DefectsClassifications of Birth Defects
z Malformations present at birth
May also be known as congenital malformations
z Metabolic defects (body chemistry)
z Disorders of the blood
z Chromosomal abnormalities
z Perinatal injuries
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March of DimesMarch of Dimes
z ³Few birth defects can be attributed to a
single cause. The majority are thought to
result from an interplay between
environment and heredity, depending oninherited susceptibility, stage of pregnancy,
and degree of environmental hazard.´
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Nervous SystemNervous System
z Neural tube defects
Most often caused from failure of neural tube to
close at either the cranial or the caudal end of
the spinal cord
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HydrocephalusHydrocephalus
z Characterized by an increase in CSF within
the ventricles of the brain
Causes pressure changes in the brain
Increase in head size
Results from an imbalance between production
and absorption of CSF or improper formation of
ventricles
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Hydrocephalus (continued)Hydrocephalus (continued)
z Classifications
Noncommunicating
Obstruction of CSF flow from the ventricles of the brain
to the subarachnoid space
Communicating
CSF is not obstructed in the ventricles but is
inadequately reabsorbed in the subarachnoid space
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Manifestations of HydrocephalusManifestations of Hydrocephalus
z Depends upon time of
onset and severity of
imbalance
z Classic sign
Increase in size of head
Cranial sutures separate
to accommodate
enlarging mass
Scalp is shiny
Veins are dilated
Marked hydrocephalus with
³setting sun´ sign of the eyes.
Note the characteristic large head,
distended scalp veins, and full
fontanelle.
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Diagnosis and Treatment
of Hydrocephalus
Diagnosis and Treatment
of Hydrocephalus
z Treatment
Medications to reduce
production of CSF
Surgery to place ashunt
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Symptoms of Increasing
Intracranial Pressure
Symptoms of Increasing
Intracranial Pressure
z Increased blood pressure
z Decrease in pulse rate
z
Decrease in respirationsz High-pitched cry
z Unequal pupil size or response to light
z Bulging fontanelles
z Irritability or lethargy
z Poor feeding
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Ventriculoperitoneal ShuntVentriculoperitoneal Shunt
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Spina Bifida
(aka Myelodysplasia)
Spina Bifida
(aka Myelodysplasia)
z Group of CNS disorders characterized by
malformation of the spinal cord
z A congenital embryonic neural tube defect
with an imperfect closure of the spinal
vertebrae
z Two types
Occulta (hidden) Cystica (sac or cyst)
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Spina BifidaSpina Bifida
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Spina Bifida OccultaSpina Bifida Occulta
z Minor variation of the
disorder
z Opening is small
z No associated
protrusion of structures
z Often undetected
z May have a tuft of hair,dimple, lipoma, or
discoloration at the site
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Spina Bifida Occulta
(continued)
Spina Bifida Occulta
(continued)
z Treatment generally not necessary unless
neuromuscular symptoms appear, such as
Progressive disturbances of gait
Disturbances of bowel and bladder sphincter
function
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Spina Bifida CysticaSpina Bifida Cystica
z Development of a cystic mass in the midline of theopening in the spine
z Two types
z Meningocele Contains portions of the membranes and CSF
Size varies
z Meningomyelocele
More serious protrusion of membranes and spinal cordthrough the opening
May have associated paralysis of lower extremities
May have poor or no control of bladder or bowel
Hydrocephalus is a common complication
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Prevention of Spina BifidaPrevention of Spina Bifida
z Mother takes folic acid 0.4mg per day prior
to becoming pregnant and/or continues to
take the folic acid supplement until the 12th
week of pregnancy
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Treatment of Spina BifidaTreatment of Spina Bifida
z Surgical closure
z Prognosis is dependent upon extent of
spinal cord involvement
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HabilitationHabilitation
z Patient is disabled from birth and must learn
new things
z Aim is to minimize the child¶s disability
z Constructively use all unaffected parts of the
body
z Every effort is made to help the child
develop a healthy personality so that he or she may experience a happy and productive
life
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Nursing Care of
Spina Bifida Patient
Nursing Care of
Spina Bifida Patient
z Prevent infection of, or injury to, the sac
z Correct positioning to prevent pressure on the sac
z Accurate observations and charting
z Education of the parents
z Moist, sterile dressing of saline or an antibiotic solution
may be ordered to prevent drying of the sac
z Protection from injury and maintenance of a sterile
environment for the open lesion are essential
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Cleft LipCleft Lip
z Characterized by a fissure
or opening in the upper lip
z Failure of maxillary and
median nasal processes tounite during embryonic
development
z Many cases are hereditary,
others are environmentalz Appears to occur more
often in boys than girls
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TreatmentTreatment
z Initial repair of cleft lip is known as
cheiloplasty cheiloplasty
z Repair occurs by 3 months of age
z Infant may have to have elbow restraints to
prevent the infant from scratching the lip
z A special syringe or bottle may be needed
to assist in feeding the child until surgeryhas occurred
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Cleft PalateCleft Palate
z The failure of the hard palates to fuse at the
midline during the 7th to 12th weeks of
gestation
z Forms a passageway between the
nasopharynx and the nose
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Cleft Palate: TreatmentCleft Palate: Treatment
z Goals of therapy
Union of the cleft
Improved feeding
Improved speech
Improved dental development
The nurturing of a positive self-image
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Cleft Palate: Other FactorsCleft Palate: Other Factors
z Psychosocial adjustment of the family
z Follow-up care
z Home care
z Surgery between 1 year and 18 months of
age
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ClubfootClubfoot
z Common deformity
z Congenital anomaly
Foot twists inward or outward
z Talipes equinovarus most common type
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ClubfootClubfoot
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Clubfoot: Treatment
and Nursing Care
Clubfoot: Treatment
and Nursing Care
z Started as soon as possible or bones and
muscles will continue to develop in an
abnormal manner
z Conservative treatment
Splinting or casting to hold foot in correct
position
Passive stretching exercises
z If not effective after about 3 months, surgical
intervention may be indicated
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Hip DysplasiaHip Dysplasia
z Term, hip dysplasia, applies to various
degrees of deformities, subluxation or
dislocation (can be partial or complete)
z Head of femur is partly or completelydisplaced
z 7 times more common in girls
z More apparent as infant/toddler beginswalking
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Developmental Hip DysplasiaDevelopmental Hip Dysplasia
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Diagnostics for Hip DysplasiaDiagnostics for Hip Dysplasia
z Barlow¶s test : upon adduction and extension
of the hips (with health care provider
providing stabilization to the pelvis), may
³feel´ the dislocation actually occur z Ortolani¶s sign (or click): where health care
provider can actually feel and hear the
femoral head slip back into the acetabulum
under gentle pressure
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Hip Dysplasia: TreatmentHip Dysplasia: Treatment
z Hips are maintained in constant flexion and
abduction for 4 to 8 weeks
Keeps head of femur within the hip socket
z Constant pressure enlarges and deepens
acetabulum
z Can use a P avlik harness to provide the
necessary positioningz Or surgical intervention may be necessary
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Pavlik Harness, Body Cast,
and Traction
Pavlik Harness, Body Cast,
and Traction
The Pavlik harness is used in infant¶sage 1 to 6 months to maintain hips in aposition of flexion and abduction.
A, Infant in a spica body cast. This cast maintains the legs in a froglikeposition and is used to treat developmental hip dysplasia. Note that theinfant is able to move her toes freely. A diaper tucked inside prevents the
cast from becoming soiled with urine or feces.B, Traction is sometimes necessary before surgery or casting. Home careenables the child to be in familiar surroundings that will nurture growth anddevelopment.
A
B
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Nursing Care of Infant/
Child in a Spica Cast
Nursing Care of Infant/
Child in a Spica Cast
z Neurovascular assessment of affected
extremities
z Place firm, plastic covered pillows beneath
the curves of the cast for support
z In the older child, a ³fracture´ bedpan should
be readily available for toileting
z Head of bed slightly elevated to help drainany body fluids away from cast
z Frequent changes of position are needed to
prevent skin breakdown
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Nursing Care of Infant/Child in
a Spica Cast (continued)
Nursing Care of Infant/Child in
a Spica Cast (continued)
z Toys that are small enough to ³hide´ in the
cast should not be given to the child
z Important to meet everyday needs
z A special wagon with pillows inside it for
support is one of the safest ways to
transport a child in a spica cast
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Metabolic DefectsMetabolic Defects
z Inborn errors of metabolism involve a
genetic defect that may not be apparent
until after birth
z Symptoms to report would include
Lethargy, poor feeding, hypotonia, unique odor
to body or urine, tachypnea and vomiting
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Phenylketonuria (PKU)Phenylketonuria (PKU)
z Faulty metabolism of phenylalanine, an
amino acid essential to life and found in all
protein foods
z Infant unable to digest this essential acidand phenylalanine accumulates in blood
and is found in the urine within the 1st week
of life
z Results in severe mental retardation
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PKU (Continued)PKU (Continued)
z Infant appears normal atbirth
z By the time urine test is
positive, brain damage hasalready occurred
z Begins to show delayeddevelopment at about 4 to6 months of age
z May have failure to thrive,eczema, or other skinconditions
z Child has a musty odor
z Personality disorder
z Occurs mainly in
blonde, blue eyed
children
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PKU: TreatmentPKU: Treatment
z Close dietary management
z Frequent evaluation of blood phenylalanine
level
z Child will require a synthetic food that
provides enough protein for growth and
tissue repair
z Special formulas are available for purchase,such as Lofenalac and Phenex-1
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PKU: Nursing CarePKU: Nursing Care
z Teach parents importance of reading food
labels
z Following up as required with health care
provider for blood tests
z Referral to a dietician is helpful in providing
parental guidance and support
z Genetic counseling may also be indicated
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Nursing TipNursing Tip
z Children with PKU must avoid the
sweetener aspartame (NutraSweet)
because it is a converted to phenylalanine in
the body
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Maple Syrup Urine DiseaseMaple Syrup Urine Disease
z Defect in the metabolism of branched-chain
amino acids
z Causes marked serum elevations of leucine,
isoleucine, and valine
z Results in acidosis, cerebral degeneration,
and death within 2 weeks if not treated
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Maple Syrup Urine Disease
(continued)
Maple Syrup Urine Disease
(continued)
z Appears healthy at birth, but problems soon
develop
z Feeding difficulties
z Loss of the Moro reflex
z Hypotonia
z Irregular respirations
z Convulsions
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Maple Syrup Urine Disease
(continued)
Maple Syrup Urine Disease
(continued)
z Manifestations:
Urine, sweat, and cerumen (earwax) have a
characteristic sweet or maple syrup odor
Caused from ketoacidosis Diagnosis confirmed by blood and urine tests
M l S U i DiM l S U i Di
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Maple Syrup Urine Disease:
Treatment and Nursing Care
Maple Syrup Urine Disease:
Treatment and Nursing Care
z Initial treatment
Removing the amino acids and their metabolites
from the body tissues (how?)
Lifelong diet low in amino acids leucine,isoleucine, and valine
Exacerbations are usually related to infection
and can be life threatening
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GalactosemiaGalactosemia
z The body is unable to
use the carbohydrates
galactose and lactose
z An enzyme is defectiveor missing
z Results in an increased
serum galactose level
(galactosemia) and in
the urine (galactosuria)
z Galactose is present
in milk in the form of
sugar, therefore,
early diagnosis isessential
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Galactosemia (continued)Galactosemia (continued)
z Manifestations
Begins abruptly,
worsens gradually
Early signs Lethargy
Vomiting
Hypotonia
Diarrhea
Failure to thrive
z Symptoms begin as
the newborn begins
to be fed
z Jaundice may bepresent
z Screening tests are
available
G l t i T t tG l t i T t t
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Galactosemia: Treatment
and Nursing Care
Galactosemia: Treatment
and Nursing Care
z Milk and lactose-containing products are
eliminated from the diet
z Breastfeeding must be stopped
z Lactose-free formulas or soy-protein based
formulas are often used instead
z Parental support and education is essential
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Down SyndromeDown Syndrome
z Most common of chromosomal
abnormalities
z Risk increases with
Mothers 35 years and older
Fathers 55 years and older
z Infant has mild to severe mental retardation
z Some physical abnormalities are also seen
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Down Syndrome (continued)Down Syndrome (continued)
z 3 Phenotypes
z Trisomy 21 Most common
There are 3 number 21 chromosomes instead of 2 Results from nondisjunction
z Mosaicism Occurs when both normal and abnormal cells are present
Tend to be less severely affected in appearance and
intelligence
z Translocation of a chromosome A piece of chromosome in pair 21 breaks away and
attaches itself to another chromosome
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Down Syndrome (continued)Down Syndrome (continued)
z Screening for this is offered during prenatal
care starting around week 15 of gestation
Allows parents the opportunity to decide on
whether to continue or terminate the pregnancy
z Alpha-fetoprotein ( AFP) and hCG levels are
used for diagnosis
z Known as the ³Triple screen´
z Amniocentesis/CVS are most accurate
D S dD S d
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Down Syndrome:
Manifestations
Down Syndrome:
Manifestations
Down syndrome. A, The typical facial appearance of an infant with Down syndrome shows the upward slant of thecanthal folds of the eyes, protruding tongue, and short, thick neck. B, The straight simian crease in the palm of thehand is a typical finding in children with Down syndrome. C, The short fifth finger is a typical finding in children withDown syndrome. The tip of the fifth finger does not extend to the distal joint of the adjoining finger.
A
B
C
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Down Syndrome (continued)Down Syndrome (continued)
z Limp, flaccid posturecaused by hypotonicityof muscles
z More difficult toposition and hold
z Contributes to heatloss
z Prone to respiratoryillnesses andconstipation due to thehypotonicity
z Incidence of acuteleukemia is higher
z Alzheimer¶s disease
more common tothose who reachmiddle adult life
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Hemolytic Disease of theNewborn
Hemolytic Disease of theNewborn
Erythroblastosis Fetalis
Er throblastosis FetalisEr throblastosis Fetalis
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Erythroblastosis Fetalis
(continued)
Erythroblastosis Fetalis
(continued)
z Diagnosis is confirmed by amniocentesis
and monitoring of bilirubin levels in the
amniotic fluid
z Diagnostic studies will help the physician todetermine if early interventions, such as
induction of labor or intrauterine fetal
transfusions are needed
Erythroblastosis FetalisErythroblastosis Fetalis
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Erythroblastosis Fetalis
(continued)
Erythroblastosis Fetalis
(continued)
z Prevention
z Use of Rh(D) immune globulin (RhoGAM)
At 28 weeks for all Rh neg mothers
After an amnio/CVS
After birth if baby is Rh positive
After any abortion (spontaneous or induced)
If there is any trauma in pregnancy
If there is any bleeding during pregnancy
Erythroblastosis FetalisErythroblastosis Fetalis
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Erythroblastosis Fetalis
(continued)
Erythroblastosis Fetalis
(continued)
z Manifestations
z A direct Coombs¶ test isdone on umbilical cord blood
z Symptoms of this diseasevary
z Anemia and jaundice arepresent Anemia is caused by
hemolysis of large numbersof erythrocytes
P athological jaundice occurs
within 24 hours of delivery Liver cannot handle the
amount of hemolysis, bilirubinlevels rise rapidly
z The liver and spleenenlarge and extensiveedema may occur
z Oxygen-carrying capacityof the blood is
diminished, includingblood volume
z Infant at major risk of shock or heart failure
Erythroblastosis FetalisErythroblastosis Fetalis
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Erythroblastosis Fetalis
(continued)
Erythroblastosis Fetalis
(continued)
z Kernicterus is a
condition in which
bilirubin has reached
toxic levelsz Infant will have
jaundice along with
Irritability
Lethargy
Poor feeding
High-pitched shrill cry
Muscle weakness
Progresses to
opisthotonos
Seizuresz Bilirubin in the brain
tissue that has
accumulated can
cause serious braindamage and
permanent
disability
E th bl t i F t liE th bl t i F t li
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Erythroblastosis Fetalis:
Treatment
Erythroblastosis Fetalis:
Treatment
z Prompt identification
z Laboratory tests
z Drug therapy
z Phototherapy
z Exchange
transfusions, if
indicated
Erythroblastosis Fetalis:Erythroblastosis Fetalis:
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Erythroblastosis Fetalis:
Nursing Care
Erythroblastosis Fetalis:
Nursing Care
z For phototherapy,ensure infant¶s eyes areprotected from the lights
z Although phototherapy
may prevent an increasein the level of bilirubin, ithas no effect on theunderlying cause of the jaundice
z Cover gonadsz Incubator care
z Exchangetransfusion requiresa central line (usuallythe umbilical vein)
z Nursing caresinclude Observing newborn¶s
color
Applying wet, sterile
compresses to theumbilicus, if ordered,until transfusions arecomplete
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Nursing TipNursing Tip
z Assessing jaundice involves the following
The skin and the whites of the eyes assumes a
yellow-orange cast
Blanching the skin over the bony prominenceenhances the evaluation of jaundice
z Jaundice that occurs on the 1st day of life is
always pathological and requires prompt
intervention
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Home PhototherapyHome Phototherapy
z Used for newborns with mild to moderate
physiological (normal) jaundice
z Less costly
z May decrease the need for hospitalization
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ABO Incompatibility ABO Incompatibility
z Hemolytic disease with symptoms similar to
those of erythroblastosis can occur with
ABO incompatibility
z A mother who has an ³O´ blood type andwho gives birth to an infant with an A or B
blood group constitutes the most commonly
seen ABO incompatibility
z Treatment and nursing care are the same
as with erythroblastosis
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Intracranial HemorrhageIntracranial Hemorrhage
z Most common type of
birth injury
z May result from trauma
or anoxia
z Occurs more often in
preterms
z
May also occur duringprecipitate delivery or
prolonged labor
z Depending on severity,some signs/symptomsmay be Poor muscle tone
Lethargy Poor sucking reflex
Respiratory distress
Cyanosis
Twitching
Forceful vomiting High-pitched cry
Convulsions
Intracranial HemorrhageIntracranial Hemorrhage
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Intracranial Hemorrhage
(continued)
Intracranial Hemorrhage
(continued)
z Diagnosis
History of traumatic
delivery
CT or MRI scan Evidence of an
increase in CSF
pressure
z Treatment
Oxygen
Gentle handling
Elevated head Medications may be
prescribed
Care with feeding
because suckingreflex may be
affected
Intracranial HemorrhageIntracranial Hemorrhage
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Intracranial Hemorrhage
(continued)
Intracranial Hemorrhage
(continued)
z If convulsion occurs, notify physician
immediately; be ready to answer the
following questions:
Were the arms, legs, or face involved? Was the right or left side of the body involved?
Was the convulsion mild or severe?
How long did it last?
What was condition of infant before and after theseizure (i.e., vital signs, skin color)?
Transient Tachypnea of theTransient Tachypnea of the
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Transient Tachypnea of the
Newborn (TTN)
Transient Tachypnea of the
Newborn (TTN)
z Characterized by
Tachypnea
May also include
Chest retractions Grunting
Mild cyanosis
z Often referred to as
R espiratory Distress Syndrome,
type II
z Typically resolves
suddenly after 3
days
May be caused fromslow absorption of
fluid in lungs after
birth
z Supportive nursingand medical care
Meconium AspirationMeconium Aspiration
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Meconium Aspiration
Syndrome
Meconium Aspiration
Syndrome
z In utero
Fetus expels meconium into amniotic fluid
Cord compression or other condition interrupts
fetal circulation If asphyxia or acidosis occurs, fetus may have
gasping movements that cause meconium
stained amniotic fluid to be drawn into the lungs
z At delivery Can occur if newborn inhales before nose and
mouth have been suctioned
Meconium AspirationMeconium Aspiration
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Meconium Aspiration
Syndrome (continued)
Meconium Aspiration
Syndrome (continued)
z Symptoms
Respiratory distress
Nasal flaring
Retractions Cyanosis
Grunting
Rales and rhonchi
Tachypnea maypersist for several
weeks
z Treatment
Warmth
Oxygen
Supportive care NICU
Neonatal AbstinenceNeonatal Abstinence
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Neonatal Abstinence
Syndrome (N AS)
Neonatal Abstinence
Syndrome (N AS)
z Fetal exposure to drugs in utero
z Many illicit drugs cross the placental barrier;
therefore, an infant born to a woman who is
an addict will suffer drug withdrawal after birth
z Infant may also have long-term
developmental and neurological deficits
Neonatal AbstinenceNeonatal Abstinence
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Neonatal Abstinence
Syndrome (N AS) (continued)
Neonatal Abstinence
Syndrome (N AS) (continued)
z Symptoms
Hyperirritability
(primary sign)
Wakefulness Diarrhea
Poor feeding
Sneezing
Yawning
z Treatment
Swaddling
Quiet environment
Phenobarbital
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Infant of Diabetic Mother Infant of Diabetic Mother
z Large amounts of glucose are transferred to
fetus
z Causes fetus to become hyperglycemic
z Fetal pancreas produces large amount of fetal insulin
z Leads to hyperinsulinism, along with excess
production of protein and fatty acids, often
results in an LGA newborn weighing 9
pounds (4082 g) or more (macrosomia)
Infant of Diabetic MotherInfant of Diabetic Mother
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Infant of Diabetic Mother
(continued)
Infant of Diabetic Mother
(continued)
z After delivery, infant may
have low blood glucose
levels
z Has cushingoidappearance
z Size of infant makes it
look healthy, but it may
not bez May have developmental
deficits and suffer
complications of RDS
z Suffers from
Hypoglycemia
Hypocalcemia
Hyperbilirubinemiaz Requires close
monitoring for the
first 2 days of life
z Monitor for Irritability
Tremors
Respiratory distress