Chapter 3&4
Chapter 3&4
Exclusive breast feeding means to feed the baby only the breast milk for the
1st 6 months. Nothing else is given to the baby to eat or drink during this time.
Advantages of BF
1.Advantages to the baby
-more easily digested
-adapts to the need of growing infants
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Benefits of breast feeding
To babies cot------
• Provides all the nutrition a baby needs in the first 6 months.
• Breast milk contains vitamin A.
Babies Low in vitamin A have: poor appetite, eye problems, and more
infections.
• It acts like the first immunization for the baby; it makes the
immune system stronger.
• It protects babies against allergies.
• If a baby is sick, helps a baby get better fast.
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to babies cont---
• It helps the baby’s body and brain develop and grow.
• Breast milk helps low birth weight babies, especially those who are
premature
• It is the easiest food for the baby to digest.
• It helps to prevent a serious disease of the intestines that affects low birth
weight babies (necrotizing enterocolitis).
• Breastfeeding helps to stabilize the baby’s temperature.
• Breastfeeding helps the baby’s mouth, teeth, and jaw develop properly.
• Milk from the breast is always in the perfect temperature for the baby.
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To mothers
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BF…
Breast milk
During lactation there are three stages of milk production
1. Colostrum –yellowish or creamy appearance fluid, thicker and contains
more proteins, fat soluble vitamins and minerals
-it contains Ig such as IgA, in most cases it is replaced by transitional milk
within 2-4 days after birth
2. Transitional milk
-produced at the end of colostrum until 2 wks' of postpartum
-this milk contains more fat, lactose, water soluble vitamins and calories than
colostrum
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BF…
3. Mature Milk
-contains carbohydrates, proteins and fats for energy and growth
-it has compositions according to the time during feeding
*Fore milk –obtained at the beginning, it has high H2O and contains
Vit and mineral
*hind milk -released after initial release of milk, has higher fat
concentration
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BF…
Practices that promote BF
-initiate BF with in 1hrs of birth,
-immediate skin to skin contact ,
-avoid separation of mother and baby,
-allow feeding on demand and evaluate attachment and position
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Proper positioning
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Signs of good attachment?
A. The baby’s chin is touching the breast.
B. The baby’s mouth is wide open.
C. The lower lip is turned outward.
D. You can see more of the areola above the mouth than below it.
Signs of good suckling?
a) There are slow deep sucks with some pauses.
b) The mother’s breasts and nipples are comfortable.
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Neonatal problems
1. preterm infants /LBW:- live born infants delivered before 37 weeks of
gestation.
➢Risk factors/ causes of preterm birth or lbw
➢low socioeconomics status
➢Inadequate ANC
➢ Malnutrition
➢ Maternal habit of smoking & infection
➢Anemia
➢Fetal distress
➢Drug addiction
➢Multiple gestation
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Risk factors cont.….
➢Polyhydraminious
➢Uterine malformation (incompetent cervix, fibroids)
➢Illnesses ( APH)
➢RH –isoimmunization
➢Obstetric hx (SB, LBW, abortion)
➢PROM
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Problem Associated premature infants
1. Respiratory –RDS, pneumothorax, congenital pneumonia, apnea
Vit-k deficiency
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cont..
5. Metabolic and endocrine
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Cont.…
Mgt -Delivery should be atraumatic
-immediate new born care -slow careful delivery of fetal head
-Vit –k -adequate episiotomy
-Incubator care, radiant heater, blanket -prevent hypothermia
-O2 -suctioning carefully
-Feeding-BF, NGT feeding • Prevent infection
-Fluid requirement –less than 1000g –avoid contamination,
need 2-3 ml/kg /hr. - avoid contacts, overcrowding
-labor and delivery
-avoid excessive sedation or regional
anesthesia because of hypotension
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2. post term infants
Defin-are infants born after 42 wks of gestation.
▪ Altered physiology –post term infants have suffered from intrauterine
malnutrition and hypoxia b/c placenta function is begin to diminishes.
▪ C/M
➢ Reduced subcutaneous tissue –loose skin
➢absence of lanugo
➢desquamated, dry, cracked and macerated skin
➢long and curved nails
➢abundant scalp hair, and greenish stain skin
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Post term….
-If placenta insufficiency occurs, has variety of physical signs
-Meconium stained –nails, vernix, umbilical cord, membranes
-abnormal FHR
-may have growth restrictions
-loose skin especially around thighs and buttocks
▪ Prognosis
-has 3 times mortality rate than delivered at term
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Post term…
Complications
❖meconium aspiration, pneumonia,
❖hypoglycemia,
❖polycythemia,
❖pulmonary hemorrhage, pneumothorax and
❖ problem associated with asphyxia
RX-careful ANC surveillance
-delivery can be nonintervention, induction of labor or CS
-For meconium aspiration suctioning should be done
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3. Hypoglycemia
Defin-a blood glucose levels of neonate <40mg/dl after 2-3 hrs of life.
Significance and squeal
-studies shows that infants and children brain can utilize glucose 4-5mg
per 100g of brain wt per min.
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Hypoglycemia…
Squeal
❖ Deprivation of major energy source during hypoglycemia ,and
limited alternate energy source due to hyperinsulinemia
❖↓O2 consumption and break down of endogenous structural
components (AAs, FFA destruction of membrane integration).
❖Permanent impairment of brain growth and function.
❖Major long term sequel are
1. Neurological damage-leads mental retardation
2. Recurrent seizure
3. Personality effect but not yet clearly defined.
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hypoglycemia…
Glucose homeostasis in new born
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Hypoglycemia…
Cause
• IDM(infant of diabetic mother)
• Post maturity, IUGR, SGA
• Twins
• Erythroblastosis
• Islets cell hyperplasia
• Multiple tocolytic drugs
• F. Malaria
• Birth asphyxia
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hypoglycemia…
C/M
• Jitteriness or tremors • Hypothermia
• Tachypnea, tachycardia
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Hypoglycemia…
Rx
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4. Hypocalcaemia
Define –when the calcium level is below the normal concentration .
❖Normal 9-11mg/100ml or average 10mg/dl.
▪ Body calcium
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Hypocalcemic tetany (disorder of parathyroid fun)
-it is the most common transient hypoparathyroidism disorders in new born.
-Some time it is called neonatal hypocalcaemia.
-less mature infants have high chance to be affected by hypocalcaemia
Types
1. Early hypocalcaemia –risks (IUGR, LBW, IDM, infants from prolonged and
difficult labor
-high in premature infants those with RDS
-causes convulsion
-asymptomatic hypocalcaemia usually resolves spontaneously
Rx -10% calcium gluconate 2ml /kg slowly with monitoring HR repeat 6-8hrs
till homeostasis achieved.
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2. Late hypocalcaemia
2. Late hypocalcaemia -occurs after high intake of phosphate milk
C/M- most common manifestation is
✓convulsion,
✓Chvostek signs is common,
✓carpopedal spasm is not usually seen,
✓laryngospasm with cyanosis and apneic,
✓irritability, muscle twitching,
✓vomiting and lethargy.
Rx -10% calcium gluconate (2ml /kg) IV
Mx –monitor adequate renal function, if cardio-pulmonary failure –
prepare artificial air way equipment and ECG for bradycardia .
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5. Perinatal asphyxia or hypoxia
Defin-an insult/injury to the fetus or new born due to lack of O2 (hypoxia) and or
lack of perfusion (ischemia )to various organs.
▪ Asphyxia –accounts for 20% of perinatal death
▪ Clinical definition of PNA:
-APGAR < 6
-Seizure
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PNA…
•Cause
– 90% due to placental insufficiency
–10% secondary to CVS, pulmonary and neurological anomalies
-chronic illness,
-maternal malnutrition,
-anemia, shock,
-HTN, cord prolapse, birth injury,
-malposition and malpresentation ,
-APH, infection, poisoning with CO, pulmonary and renal
disorder, anesthesia
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PNA…
Patho-physiology:
o2→hypoxic- ischemic
➢ Target organs –kidney ,CNS, CVS, Lungs
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PNA…
C/M
✓IUGR
✓slow FHR, meconium stained amniotic fluid, Hypotonia or
hypertonia
✓pallor, cyanosis, slow HR, apnea, seizure, GI perforation,
Hematoma, CHF.
✓Hypoxic –ischemic encephalopathy (HIE)-It is brain injury
because of hypoxia
✓Focal or multi focal cortical necrosis due to loss of perfusion, also
there are periventricular and parasagittal ganglia.
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PNA…
MX
1. Avoid BP fluctuations
2. IV maintenance fluid
3. Correct metabolic abnormalities
4. Anticonvulsants
Complication
1. CVS-CHF, hypotension
2.Repiratory- MAS, HMD ,pulmonary hemorrhage ,pneumonia
- RX-mechanical ventilation
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PNA…
3.Renal –acute tubular necrosis
-intestinal perforation
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6. Respiratory distress syndrome
➢Also called Hyaline membrane disease.
➢Common in preterm infants
➢The primary causes of RDS is inadequate pulmonary surfactant
➢When Surfactant is deficient, the surface tension is higher and
alveoli is unable and collapse at end of expiration.
C/manifestation
❖Tachypnea, grunting,
❖intercostal and sub costal retraction,
❖nasal flaring, cyanosis
❖The symptom may be peak with in the first 3 day, then after
improvement starts to be seen
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RDS…
Prevention
-prevent untimed CS of pregnancy,
-Administration of dexamethasone or betamethasone before delivery for
the mother at 32wks or less
Diagnosis –clinical course, x-ray
Rx
-put in warm room
-oxygen administration
-assisted mechanical ventilation
-exogenous surfactant administration
-give antibiotics
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G. Transient tachypnea of the new born
-The syndrome is secondary to slow absorption of fetal lung fluid
resulting in decreased pulmonary compliance and tidal volume and
increase dead space
CM
-early on set on tachypnea, granting, cyanosis
-Patient usually recovers rapidly within 3 days
-clear chest without rales or ronchi
-hypoxia and acidosis is not common
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TTN-----
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H. Meconium aspiration syndrome (MAS)
➢it is found 5-15% of all births
➢5% of them develop meconium aspiration pneumonia
➢30% require mechanical ventilation
➢less than 5% of them expire
Causes
-placental disfunction
-post maturity or SGA
-fetal hypoxia, breech delivery
-APH
-listeriosis/bacterial infection of CNS.
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MAS…
There are 2 theories why amniotic fluid is stained with meconium
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MAS…
CM
-Visible meconium stained skin, nails ,umbilical cord
-Many have been asphyxiated and having tachypnea,
-retraction grunting and cyanosis
-lung over inflation
-diffuse rales, rhonchi
-condition may improve within 72 hrs
-tachypnea may persists for many years
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MAS…
INV- x-ray –which shows typical pattern of patchy infiltrates
Prevention
-Initiate prompt delivery –for those who have poor FHB pattern
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MAS…
MX
-new born with thin meconium,
-antibiotics
-supportive care
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I. Persistent fetal circulation
❖ is a condition caused by a failure in the systemic and pulmonary circulation
to convert from the antenatal circulation pattern to the "normal" pattern
❖The problem might occurs following new born problems/several event
causing asphyxia, MAS , streptococcal sepsis, HMD, hypoglycemia ,
polycythemia, pulmonary hypoplasia, diaphragmatic hernia
Pathogenesis
-it occurs as a result of right to left (R-L) shunting of blood away from the
lungs and through the fetal ductus arteriosus and patent foramen ovalae.
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Cont…
• In a fetus, there is high pulmonary vascular resistance and low
pulmonary blood flow as the fetus does not use the lungs for oxygen
transfer.
• Once the baby is born, the lungs are needed for oxygen transfer and
need high blood flow which is encouraged by low pulmonary vascular
resistance.
• It can be associated with pulmonary hypertension.
• Because of this, the condition is also known as "persistent
pulmonary hypertension of the newborn".
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Persistent pulmonary hypertension of the Newborn (PPHN)
• Occurs where blood is shunted away from the lungs through the foramen
ovale and patent ductus arteriosus.
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How can we avoid PPHN and facilitate fetal adaptation?
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CM
• -infants will be sick in delivery room or within 72 hrs of life
• -cyanosis, tachypnea, granting, flaring, retractions, tachycardia and
shock
DX
• CXR, ECG
Treatment
• -improving oxygenation
• -correct predisposing factors
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J. Neonatal infection /sepsis
Defin- is a systemic response to infection.
• Classification in new born
• Early onset neonatal sepsis (EON) - presents within the 1st 7
days of life (sepsis (50%), pneumonia (30%), and meningitis (15%
)
• Late onset neonatal sepsis (LON) -occurs on or after 7 days of
life and most commonly manifests as bacteremia (45–60%) and
meningitis (25–35%). Focal infections involving
▪ bone and joints,
▪ skin and soft tissue,
▪ the urinary tract, or lungs ,
▪ Cellulitis and adenitis
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Cont…
Causes or risks
1. Common organism causing sepsis includes
❖ group B streptococcus ,
❖E. coli, Listeria, and
❖viral causes considered are herpes simplex and enteroviruses
2. Predisposing factors:
• Maternal infection during px (UTI, chorioamnionitis )
• Prematurity, RDS , skin infection
• Prolonged PROM , difficult /traumatic labor
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Sepsis…
C/M
oHypotonia , breathing difficulty(grunting)
otachypnea, cyanosis, poor feeding, irritability
oapnea ,bradycardia, seizure ,tremor ,hypothermia/hyperthermia ,
owound site infection may be present .
oOn physical examination full fontanel may be palpated.
Investigations
-CBC, lumbar puncture (CSF),
-blood and urine culture
-chest x-ray to rule out pneumonia
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Sepsis…
Treatment
• Ampicillin + 3rd generation cephalosporin or Ampicillin + gentamycin
• Supportive care-observation, fluids, electrolyte, oxygen, regulation of
thermal environment.
Complications
• neonatal meningitis, shock, pneumonia, congestive heart failure, UTI,
mortality
Differential dx
-RDS have similar s/s
-pneumonia
-congenital heart ds, neurologic ds
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K. Congenital syphilis
• is syphilis present in utero and at birth, and occurs when a child is
born to a mother with 2nd ry syphilis.
Cause – Treponema palladium
-systemic communicable ds
-mainly trans placental transmission
-rarely contact with birth canal
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Cont..
• -transmission can occur throughout pregnancy but the risk varies with
stages of maternal illness that is the longer interval b/n infection and
conception the greater likelihood of free of infection
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Congenital syphilis…
• C/M
• involve almost all viscera
• Fetal or perinatal death occur in 40%
• manifestation occur in 2nd stage
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Cont.…
Classification -Syphilitic rash-involving hands and feet
❑Early (<2 yrs.) -lymphadenopathy
• occurs in children b/n 0 and 2 years -Hematologic finding-anemia,
old. After, they can develop late thrombocytopenia
congenital syphilis -fissure and mucus patches
-hepatomegaly with or without jaundice -CNS involvement –CSF +ve for VDRL
-splenomegaly -pneumonia
-Skeletal abnormality-periostitis -failure to thrive, meningitis and
-Rhinitis-mucoid profuse nasal discharge nephritic syndrome
-early pancreatitis
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Congenital syphilis…
❑ Late
-is the result of scarring and chronic inflammation of bones, teeth and
CNS
-Hutchison`s triads ( -Hutchison`s teeth, interstitial keratitis and 8th
nerve damage (auditory)
-frontal bossing
-high plantar arch
-saddle nose
-saber shin (multiple bone signs), clutton`s joint (usually knee synovitis)
-Gummatous lesion
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Congenital syphilis…
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Congenital syphilis…
DX
Mx
-dark field microscopy
-Serologic tests –VDRL • Aqueous crystalline penicillin G, 200,000–
-Radiology –for detecting abnormality
300,000 U/kg/day IV administered as 50,000
-Differential dx
-neonatal sepsis, CHF, TORCH, hemolytic ds of U/kg every 4–6 hr for 10 days
the new born and osteomyelitis
Prevention • Procaine penicillin 50,000 U/kg IM qd × 10–
• -serologic test for syphilis,
14 days
• adequate treatment of mother with primary and
secondery syphilis
• -crystalline penicillin 50,000 iu/kg/dose IV
• Benzathine penicillin 2.4 million units repeat
weekly for 2 wks for early ,secondary syphilis every 12 hrs for the first 7 days then every 8
• Benzathine penicillin 2.4 million units IM,
weekly × 3 for latent (>1y) maternal syphilis hrs per 10-14 days
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L. Neonatal jaundice
Defin-is an accumulation of serum bilirubin above normal level
Normal value –total <1.5mg/dl
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Bilirubin production (source)
➢From RBC break down -75%
• Results protein and Globulin combined with haem, which is an iron
porphyrin complex.
• In the presence of enzyme it is called haem oxygenase.
❖Then globin reduced to AA, iron is broken off and stored and
porphyrin moiety is broken down in to biliverdin ,which is reduced
to bilirubin , this bilirubin is unconjugated or indirect is fat soluble
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Cont.…
▪ Then the unconjugated bilirubin in the liver and converted to direct or
conjugated water soluble to be removed via bile into intestine and
excreted in the stool and hydrolyzed to unconjugated bilirubin in the
intestine and reabsorbed across intestinal mucosa to the circulation
➢non-erythrocytes source 25 %
▪ Tissue heme proteins (liver)
▪ Ineffective erythropoiesis (bone marrow)
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Bilirubin
1. Indirect (unconjugated )- is an end product of heme-protein
-Fat soluble
2. Direct (conjugated )- unconjugated bilirubin converted to direct
bilirubin in the liver
-water soluble to be removed via bile into intestine
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Jaundice…
1.Physiological hyperbilirubinemia
• TSB>1.5mg/dl.
• The liver of the new born is immature which unable to conjugate the
vast amount of bilirubin as fast as it is produced. So jaundice is results.
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Physiological….
• On average, new born infant produces twice as much bilirubin as
adult.
• Because
❖physiological polycythemia and shorter RBC life span (60-70 days) unlike
120 days in adults
❖low plasma protein
❖decreases liver ability to excrete conjugated bilirubin
❖decrease glucuronyl transferase enzyme activity, may decreases to impair
conjugation of bilirubin
❖Decrease glucuronyl transferase
❖Appears 3-8th days
❖Resolves at the end of 2 wk preterm and 1 week for term
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Jaundice…
• Pathological jaundice
➢clinical jaundice observed in the first 24 hrs of life
➢Clinical jaundice persisting for >a wk in full term or >2 wks in preterm baby
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jaundice…
Causes
• Hemolytic ds of the new born –RH • Birth asphyxia
incompatibility • hypoglycemia , cephalhematoma and
• Intrauterine infections(TORCH ) bruising
• RBC enzyme deficiency – • Acidosis
G6PD,pyruvate kynase ,hexokynase • Septicemia
• Administration of drugs –oxytocin, • Hepatitis
diazepam,sulfonamid ,nitrofurantoin
• Extra hepatic biliary atresia
• Thalassemia
• Breast milk jaundice
• Prematurity, twin to twin transfusion
• drugs ,hypothermia
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jaundice…
C/m
• Clinical jaundice TSB >7mg/dl
• Complete hx and PE
Hx
-previous hx of neonatal jaundice or family hx of jaundice, anemia and
spleenoectomy
-maternal illness with fever and rash during pregnancy
-labor and delivery events
-maternal drugs
PE
-SGA, microcephaly/macrocephally, pallor, bruise, cephalhematoma,
petechiae, hepatomegally, omphalitis, cataract
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Jaundice…
Clinical assessment of jaundice
• Progression= cephalocaudal
• Face =5-7mg/dl, chest 10mg/dl, lower abdomen /thigh =12mg/dl,
sole/palm= > 15mg/dl. (face<chest< abdomen/thigh<sol/palm)
• Always TSB by laboratory
Investigation
-HCT, TSB with conjugated fraction,
-CBC with morphology,
-blood group of the neonate with direct coombs test and indirect coombs
from mother.
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jaundice…
Mx with hyperbilirubinemia
=Principles of mx are
oAvoid any drug that interfere bilirubin metabolism ex-anti convulsants
oCorrect any thing making CNS susceptible (hypoxia, hypoglycemia,
acidosis)
oGive adequate feeding
oLower serum bilirubin by
➢phototherapy and
➢exchange transfusion
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Jaundice...
Phototherapy
Defin -exposure of the new born to high intensity of light(fluorescent
bulbs or bulbs in the blue light spectrum)
-decreases serum bilirubin levels in the skin by facilitating biliary
excretion of unconjugated bilirubin.
-Any light source can be used with 400-500nm, 45 cm away, and
preferably green /blue light.
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Phototherapy…
Mechanism of action-unconjugated to conjugated bilirubin
❖ Photo isomerization -occurs when light absorbed by the tissue
converts to unconjugated bilirubin into two isomers called photo
bilirubin. This photo bilirubin moves from the tissues to the blood by a
diffusion mechanism. In the blood it is bound to albumin and
transported to the liver. Then it moves to bile to be excreted.
❖ Photo oxidation –when light oxidized, bilirubin photo degradation
products
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Phototherapy…
Indication for phototherapy
• TSB more than normal, likely to rise but has not reached exchange level
.Start at 4-5 mg/dl below.
Note –do exchange transfusion if TSB has reached exchange level,
phototherapy is not a substitute for exchange transfusion
• Prophylactic phototherapy
• RH iso-immunization,
• babies<1000gm,
• severely bruised babies
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Phototherapy…
Precaution/care for the new born during phototherapy
➢Cover eyes (eye patches or billi mask)
➢Repositioned the new born at least every 2 hours to permit the light to
reach all surface of the skin
➢Discontinue phototherapy and remove eye patches at least once/8hr shift
or at the time of feeding
➢Monitor fluid and electrolyte status
➢Monitor temperature
➢Determine TSB 6 hourly.
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Phototherapy…
Side effect of phototherapy
-increased insensible water loss
-retinal damage
-skin rash
-bronze baby syndrome
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jaundice…
Exchange transfusion
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Exchange…
When to exchange
-TSB value (20mg/dl in full term, 15mg/dl high risk wt 1500gm and 10mg/dl wt
1000gm.
-sickness of body
-likely cause of the jaundice based on the cause
-In Rh-iso immunization, do exchange transfusion in the following conditions
-hydrops fetalis
-hx of previous siblings required exchange transfusion(pallor, direct coombs test)
-cord HCT <33%
-cord TSB >5mg/dl
-Rate of rise TSB >1mg/dl/hr despite phototherapy
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Exchange…
Prepare
-blood group, x-match baby and maternal blood
-ask volume 2x total volume of body`s blood ;
-Total volume of new born
=80ml/kg in >2kg,
=90ml/kg in 1-2 kg,
=100ml/kg in <1kg baby.
-request blood less 72 hrs, screened for HIV and HBS
Precaution –consent, empty stomach ,warm blood ,shake blood
intermittently to avoid RBC settling ,never keep umbilical catheter end
open to air, procedure should take 45 min to 1 hr .
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Exchange…
• Post Exchange activities
-give vit k, repeat all medications,
-monitor v/s every 30min for 2hr,
- watch for bleeding from umbilical stamp,
-continue photo treatment,
-check for blood sugar, TSB, HCT after 2 hr, then 6 hr.
• Risks of uncontrolled or untreated hyperbilirubinaemia
-it causes bilirubin encephalopathy or kernicterus
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Kernicterus
-yellowish staining of the brain
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Cont…
Clinical stages of kerniecterus
I-depressed reflex and tone, lethargy, poor feeding, vomiting and high
pitched cry
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M. Hemorrhagic disease of the new born
Define -neonatal hemorrhagic disorders are bleeding disorders that are
manifested with in 5 days of life and related to vitamin k deficiency .
▪ Vit k dependent coagulating factors II,VII,IX, X will be affected, as a
result of this vit k stores are absent in new born.
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Hemorrhage…
C/M
• Hematuria
• Ecchymosis
• Petechiae, Epistaxis
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Hemorrhage…
Dx Mx
• Platelet count • Aimed at prevention
• Bleeding time 4-8 min • Vit k administration with in the 1st 24 hrs
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N. Congenital pneumonia
➢In developing countries it accounts > 50% of cases of RD in new born.
Cause
▪ group B streptococcus
▪ E.coli, klebsela, pseudomonas, staph aureaus
Risk factors
❑ The most common are
–PROM, prolonged labor,
- unclean vaginal examination,
-foul smelling amniotic fluid,
-maternal fever
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Congenital pneumonia…
CM INV-
• Respiratory distress -CBC, blood culture,
• apnoeic attack -CSF analysis,
• asphyxia -x-ray (patchy infiltration)
• prolonged capillary filling time Mx
• hypothermia • basic supportive care for RD
• Ampicillin +gentamycin
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O. Common neonatal malformations
Basic Terms
▪ Dysmorphology is the study of abnormalities of human form and the
mechanisms that cause them
▪ Congenital: “present at birth”
-Does not denote etiology
-may or may not be genetic
Genetic: Determined by genes
Anomaly: A structural defect
Major anomalies, minor anomalies, normal variants
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Cont…
When several malformations occur in a single individual, they are classified
as syndromes, sequences, or associations
• Sequence: A pattern of multiple anomalies derived from a single known or
presumed primary cause/event
i.e. Potter Sequence, Pierre-Robin Sequence
• Association: a non-random occurrence of multiple malformations for
which no specific or common etiology has been found
i.e. VACTERL Association
• Syndrome: a recognized pattern of anomalies with a single, specific cause
-Down Syndrome
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Chromosomal abnormalities
Chromosomal deletion:
Chromosomal inversion:
Chromosomal translocation:
-when cells go through meiosis, parts of the chromosomes stick together and switch.
Chromosomal non-disjunction:
-when cells go through meiosis the chromosomes don’t separate correctly and either
too many or not enough are passed
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Down syndrome
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DS…
Etiology/Risk factors
• the etiology is chromosomal abnormality
• Increased age of mothers /fathers increases the incidence of
chromosomal abnormality increases, and
• smoking has also impact
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DS…
Types
• The genetic defects associated with DS is the presence of extra
material on the chromosome that is designated 21.
• The forms appear classified as
❖trisomy 21:
❖Translocation:
❖Mosaicism:
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DS…
1. Trisomy 21
➢Presence of 3 rather than pair of chromosomes designated as 21
➢every cell in the body has three copies of chromosome 21
➢95 % of all cases of DS
➢Chromosome 21 appears 3 times, instead of the standard 2 times.
➢-this form is not inherited
➢It results in cell division causes zygote to receive extra chromosome.
➢ People with down syndrome have 47 chromosomes-> 23 pairs (46) + the extra
chromosome 21.
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Picture showing extra chromosome at 21st chromosomes
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DS…
2.Translocation
➢An interchange of chromosomes or parts of chromosomes that may result
mismatched pairs
➢each cell has part of an extra chromosome 21, or entirely extra one. But it is
attached to another chromosome instead of being on itself
➢Occurs 4% of all cases DS and known to be hereditary
➢Have extra number of 21 chromosomes that has broken and attached to another
chromosomes
➢Chromosome number 21 attaches to another chromosome(13, 14, 15, & 22).
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DS…
3. Mosacism
❖is rare forms of DS occurs about 1% of all cases
❖only some cells have an extra chromosome 21
❖it results when some cells have a normal chromosomes count and
some show trisomy, it occurs accidental from an error cell division of
fertilized eggs .
❖Associated conditions
▪ Congenital heart defects,
▪ duodenal atresia,
▪ hypothyroidism,
▪ obesity
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Have over 50 characteristics
• short stature,
• flattened nose,
• brush field’s spot (gray or yellow spots around the edge of iris),
• single crease in the palm,
• protrude tongue ,
• low sets of ear ,
• virtually all children with DS have mental retardation etc.
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2. Gastrointestinal malformations
2. Esophageal atresia
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Gastroschisis
• An abdominal wall defect in neonates which is apparent at birth
• Bowel protrudes through full thickness defect in abdominal wall
adjacent to umbilical cord
• Defect to the right of umbilicus
• No covering over bowel other than thickened, inflamed peritoneum
• Intestines herniate through the abdominal wall
• Area weakened by involution of the right umbilical vein
• Sequence occurs relatively early in gestation
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Gestroschisis…
• Small abdominal wall defect, lateral to
the umbilicus
• Umbilical cord attached to abdominal
wall to the left of defect
• No limiting sac, viscera often limited to
small intestine and ascending colon
• Infants are generally preterm or SGA
• Associated with other congenital
disorders mostly of GIT like
malrotation, atresia, stenosis
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Gestroschisis… Treatment
• Gastric decompression
• Antibiotics
• Silo suspension (sealed plastic device surgically attached to infant )
-allows the bowel to return to normal size.
-commonly have underdeveloped abdominal capacity thus
not allowing for primary closure.
-Daily decompression allow for stretching of the abdominal
tissue and minimizes intestinal damage.
• Primary closure- generally for small defects or those term infants with
adequate abdominal tissue.
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Cont…
Rx:
❖cover the defect with sterile saline dressing helps prevent to air born
bacterial infection and hypothermia.
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Omphalocele
Also known as exomphalos.
It is when abdominal content herniate through umbilical ring at the point
where the umbilical cord connects the abdomen
• The sac is covered with peritoneal membrane instead of skin
• This sack may be large & contains much of the intestine plus the liver.
• Is of two types- exomphalos major and exomphalos minor
Thus umbilical cord lies at the apex of the sac which may vary from few c.m
to huge sac containing entire mid-gut, stomach, liver, spleen
Dx; based on inspection of abdomen
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Omphalocele…
• Defect is covered by a surrounding
membrane (peritoneum and amnion)
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Differences
Gestroschisis Omphalocele
• Contents not covered by any ➢Translucent avascular sac of
membrane: peritoneum and amnion
• highly susceptible to infection ➢Umbilical cord at the apex of the sac
• Umbilical cord lies adjacent to the ➢Contents may vary from few intestinal
sac loops to entire midgut, stomach & liver
• Liver is always inside the abdomen ➢Associate congenital disorders are as
• Other congenital birth defects are high as 74%
rare
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Omphalocele and gastirio…
Diagnosis
First trimester USG---
By inspection:
• With peritoneal covering; omphalocele
• Without covering- gastroschisis
Care at birth
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2.2.Esophageal atresia
Define-is failure of esophagus to form a continuous passage from pharynx to
the stomach during embryonic development.
-The esophagus instead of being an open tube from the throat to the stomach
is closed at some point.
-A fistula is common between the trachea and esophagus.
Cause
• Mostly unknown
• Failure of embryonic development
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Cont…
• Apnea
• Abdominal distention.
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Picture of esophageal atresia and
tracheoesophageal fistula
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Cont…
Dx
1.prenatal diagnosis(u/s)
2. C/m
3. X-ray /radiography
Any infant who has an excessive amount of frothy saliva in the mouth or
difficulty with secretions and unexplained episodes of cyanosis should be
suspected of having an EA and referred immediately for medical evaluation.
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Therapeutic management
➢If the infant feed and swallows but suddenly coughs, and the fluid return
through the nose or mouth, report immediately.
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Post operative care
• The infant is returned to radiant heater or incubator.
• The gastrostomy tube is connected to gravity drainage until the infant can
tolerate feeding.
• Tracheal suction with extreme caution to avoid injury to the suture line.
• The initial attempt at oral feeding to make sure that the infant can swallow
without choking.
• Oral feedings are begun with sterile water, followed by frequent small
feeding of formula.
• Infants are usually not discharged until they are taking oral fluids well and
the gastrostomy tube is removed.
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Imperforated anus
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2.4.Cleft lip
Defin - partial or complete nonunion of the upper lip or
-is a congenital fissure in the upper lip
- is an abnormal opening in the middle of the upper lip.
- is a separation of the two sides of the lip.
- It usually looks like a gap in the skin of the upper lip.
-It is a birth defect.
-It can happen on one side of the lip (unilateral cleft lip) or both sides of the lip
(bilateral cleft lip) & may be extended up in to the nostril
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Cleft Lip
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Cleft lip…
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Cleft lip…
Pre–Operative
❖Nose & throat swabs for culture & sensitivity
❖Use rubber tipped dropper in feeding
❖Blood group
❖Watch v/s
❖Keep mouth clean
• Advise the mother to restrain elbow after operation
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Cleft lip...
Post- Operative care
• Change position
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2.5. Cleft palate
Define:- It is incomplete fusion of the palatine palate.
-Small hole in the soft palate or often extends through both hard &
soft palate
Rx. Surgery Repair may be done 12-18 months.
Pre –Operative care is the same as cleft lip
Post-operative
-Fluid diet by the help of rubber tipped dropper
-Keep air way patent
-Keep his abdominal position head onside
-Check for hemorrhage, Restrain child’s arm
Prognosis- depends up on the extent of the deformity
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Cleft Palate
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CAPTER FOUR
ABNORMALITIES RELATED TO RESPIRATION.
Diaphragmatic hernia
Laryngeal stridor
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1.Diaphragmatic hernia
Defin- is abnormality consists of a defect in the diaphragm that allows herniation of
abdominal contents in to the thoracic cavity.
Cause
✓ Karyotype abnormalities have been reported in 4% of infants with CDH, and CDH
may be found in a variety of chromosomal anomalies including trisomy 13, trisomy 18,
and tetrasomy 12p mosaicism.
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Cont…
• Dx -ultrasonography diagnosis (as early as the second trimester)
Mediastinal shunt
Viscera herniation (stomach, intestines, liver*, kidneys,
spleen and gall bladder)
Abnormal position of certain viscera inside the abdomen
Stomach visualization out of its usual position
Intrauterine growth retardation*
Polyhydramnios*
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cont…
-x-ray-will confirm diagnosis
• Treatment
-mechanical ventilation
-surgery
-Nitric oxide
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2. Laryngeal stridor
Define
➢ is a noise made by the baby
➢Harsh sound caused by turbulent airflow
➢Implies partial airway obstruction
➢Laryngeal stridor-inspiratory, biphasic
➢usually on inspiration and exacerbated by crying
➢most common cause larygomalacia, due to laxity of the laryngeal
cartilage
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Ethology
- Congenital Laryngeal Anomalies
• Laryngomalacia-different types
• Tracheomalacia
• Vocal Cord Paralysis
• Laryngeal Clefts
- Infectious (“croup” (laryngotracheitis), epiglottitis, tracheitis
- Trauma
- Foreign Body
-Tracheal
-Esophageal
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cont…
S/S
-although the sound is distressing baby is not at all upset
Dx
Bronchoscopy
CT-scan
Chest and neck x-rays
Mx
-reassure the parent
-if stridor accompanied by dyspnea or feeding problem further investigation can be
done such as laryngoscopy
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3. Congenital cardiac defects
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Cont…
1.Congenital heart diseases :
Define:- CHD is a structural malformation of the heart or great vessel,
present at birth
• Incidence- 0.08-0.1%
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CHD…
Etiology CHD
▪ Exact cause is unknown, but the possible cause are:-
❖Maternal alcoholism.
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CHD…
Types of defect divided in to two types
I. Acyanotic:
-no mixing of unoxygenated blood in the systemic circulation.
-no cyanosis in this defect observed E.g.:-
1. Obstruction of blood flow
-Aortic stenosis
-Coarctation of the aorta
2. Left to Rt. shunts
-Atrial septal defect
-Ventricular septal defect
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CHD…
II. Cyanotic: -
▪ is mixing of unoxygenated blood in the systemic circulation.
▪ Cyanosis is in this defect
E.g. 1. Rt to Lt shunts.
2. Tetralogy of fallot
❖The most common type of cyanotic heart disease has "4" defects.
a. Ventricular septal defect
b. Pulmonic stenosis
c. Rt. ventricular hypertrophy
d. overriding or dextro position of aorta
➢Transposition of great arteries: - The aorta has its origin in the Rt ventricle &
pulmonary artery the Lt ventricle so the fun is vice versa.
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CHD…
• The sign / symptom of CHD includes:-
•Abnormal murmur
•Varying degree of cyanosis & dyspnea
•fatigue with exertion
•Growth failure late sign or slow wt gain
•Clubbing of the finger
•The infant is weak & irritable
•The presence of cyanosis w/h does not respond to oxygen therapy
•CHF
•Unable to feed
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CHD…
Dx of CHD. Rx & N/care
_cardiac catheterization • surgery - (correction of stenosis)
–Chest x- ray - determine - shape / • Surgical closure (ASD,VSD)
size of the stenosis • Management of or N/care of CHF if
–ECG - Indicates Rt. & Lt. occurs
Ventricular hypertrophy • Vital sign
-Auscultation murmur • Immunization of Rubella
• Small & frequent feeding
• Prevention of infection e.g. ARI.
• Prepared the child for diagnostic &
Rx procedure
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CHD…
1.1 Ventricular septal defect
• Define -Abnormal opening b/n the Rt & Lt ventricle
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VSD…
CM
• Small defect usually asymptomatic (many close spontaneously )
• Large defect may develop symptoms:
➢Slow weight gain
➢Feeding difficulties
➢Pale, frequent respiratory infection
➢Tachypnea,
➢excessive sweating
➢Congestive heart failure .
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VSD..
Dx
❖ auscultation =murmur ,
❖chest x-ray, ECG,
❖ultrasound
Complications-
• endocarditis,
• CHF
Treatment
• medical treatment of CHF
• surgical closure of the defect
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1.2. Atrial septal defect
Defin- abnormal opening b/n both atria
CM
• Generally asymptomatic
• Slow wt gain
• Tiredness
• Dyspnea
• Frequent respiratory infection ,CHF
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ASD…
Dx
–Murmur,
-chest x-ray, ECG
Complications
• endocarditis,
• cardiac failure,
• pulmonary hypertension,
• coronary artery diseases
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1.3. Coarctation of aorta:
Defin
• narrowing or constriction of aortic lumen .
• Aortic stenosis:- stenosis of aortic valve
• Altered physiology
➢ Blood can't pass freely from Lt. Ventricle to systemic circulation
because of aorta obstructed and affected blood flow.
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Coarcatation…
CM
-usually asymptomatic childhood-growth and development are normal
-May demonstrate –fatigue, headache, nose bleeding, leg cramps
-absence or reduced femoral pulsation
-Sever anomalies causes-growth failure, tachypnea, dyspnea, edema
and CHF
DX
-murmur,
-chest x-ray, ECG
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Coarcatation…
Complication
-cerebral hemorrhage,
- rupture of the aorta,
-infective endocarditis and CHF
Treatment
-Infants –care for CHF, and surgical correction if present at 6th year age
of life with heart failure
-Asymptomatic older infants-surgical resection (present b/n 3 to 6 years)
-Surgery –resection of coarcted segment –end to end anastomosis or
graft
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CHD…
1.4. Patent ductus arteriosus:
- normally closes few days after birth if this remain open blood shunted
from aorta to the pulmonary artery.
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PDA…
CM
-Small ductus arteriosus –usually asymptomatic
-Large patent ductus arteriosus develop symptoms –
▪ slow wt gain,
▪ feeding difficulties,
▪ frequent respiratory infections and CHF
Dx
-murmur,
-chest x-ray, ECG
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PDA…
Complications
-CHF,
-infective endocarditis
Treatment
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1.5. Pulmonic stenosis
• Restrict blood flow from the heart to the lung or thus causes ed
pressure in Rt. ventricle forcing unoxygenated blood to the Lt.
ventricles.
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PS…
CM
❖decreases exercise tolerance
❖Severe obstruction may have –
➢dyspnea,
➢ generalized cyanosis
❖may complain:-
▪ pericardial pain,
▪ dysarrythemia and
▪ death
Dx-
❑ murmur,
❑chest x-ray, ECG
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PS…
Complication
-bacterial endocarditis
Treatment
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