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College of Medicine and Health Sciences

School of Midwifery
Department of General Midwifery

Neonatology for 3rd year Generic Midwifery Students


By: Tsion Tadesse (BSc, MSc)
January, 2023
Gondar, Ethiopia
For any concern, you can contact me at tsiontadese12@gmail.com
Outlines
 Neonatal hemorrhagic disorders

 Birth injuries

 Common congenital malformation of neonate


 Upper GI tract anomalies
 Abdominal wall defects
 Common congenital heart diseases
 Central nervous system abnormalities
 Musculoskeletal system
 Genitourinary system
Neonatal hematology, birth injuries, and birth defects
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Neonatal hematologic disorders

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Neonatal Hematologic Cont….

Objectives
By the end of this session, students will be able to:

Describe common neonatal hemorrhagic disorders


Elaborate the causes of hemorrhagic disorders
Explain the diagnosis and managements of neonatal
hemorrhagic disorders

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I. Neonatal Anemia

Normal physiology
 At birth, normal values for the central venous hemoglobin
in newborn with >34 weeks of gestational age are 14 to 20
g/dL, with an average value of 17 g/dL

It can vary depending on gestational age (GA), postnatal


age, and birth weight (BW).

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Anemia Cont…..
Anemia is the most common hematologic abnormality
in the newborn.
It is defined as a hemoglobin (Hgb) or hematocrit (HCT)
that is more than 2 standard deviation below for the age or
less than normal range for postnatal age and BW.

For clinical purpose, HCT < 45% in the 1st week of life.

A central venous hemoglobin <13 g/dL or capillary


hemoglobin <14.5 g/dL.
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Anemia Cont…..

Causes of neonatal anemia


 Anemia in the newborn results from either of the
following three processes:
Loss of RBCs (hemorrhagic anemia), the most
common cause or
Increased destruction of RBCs (hemolytic anemia)
or
Underproduction of RBCs (hypoplastic anemia).
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Anemia Cont…..

Causes…….
1) Hemorrhagic anemia (Blood loss anemia)
A. Antepartum:
 Loss of placental integrity (Abruptio placentae, placenta
previa, or traumatic amniocentesis).
 Anomalies of the umbilical cord or placental vessels
(Velamentous insertion of the umbilical cord, vasa previa)
 Cord accidents
 Twin-twin transfusion (in monozygotic multiple births.

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Anemia Cont…..

Causes…….
B. Intrapartum period:
 Emergency cesarean delivery
 Traumatic rupture of the umbilical cord
 Failure of placental transfusion (due to umbilical cord
occlusion, an entangled or prolapsed cord) during vaginal
delivery
 Obstetric trauma (difficult vaginal deliveries, breech
deliveries, difficult
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hematology, birth injuries, and birth defects labor). 9
Anemia Cont…..
Causes…….
C. Postpartum (Neonatal period)
Caput succedaneum, Cephalohematoma, Subgaleal hemorrhage,
Intracranial hemorrhage
Defects in hemostasis: coagulation disorder, deficiency of vitamin-
K dependent clotting factors(II, VII, IX, and X)
 Failure to administer Vit-K at birth
Thrombocytopenia
Uvelectomy
Bleeding from the umbilicus
Early umbilical cord clamping (less than one minute)
Iatrogenic causes (excessive blood loss from frequent blood
sampling)
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Anemia Cont…..

Causes……
2) Hemolytic anemia (Anemia due to RBCs destruction)
 Immune hemolysis (Rh or ABO incompatibility)
 Non-immune hemolysis (Bacterial sepsis, Congenital
TORCH)
 Congenital erythrocyte defect(Metabolic enzyme
deficiency, Thalassemia)
 Systemic diseases (Galactosemia, Osteopetrosis)
 Nutritional deficiency
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Anemia Cont…..

Causes……
3) Hypoplastic anemia (Due to decreased production of
RBCs)
Congenital disease (Diamond-Blackfan syndrome,
congenital hypoplastic anemia, Congenital leukemia).

Acquired disease (Rubella and syphilis Infection,


Aplastic crisis, Aplastic anemia).

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Anemia Cont…..
Clinical manifestation
Sign and symptoms
History of blood loss in newborn Pallor

Family history of anemia, Jaundice from hemolysis


jaundice, History of APH Apnea and bradycardia
History of maternal drug use Tachycardia
Maternal blood type (mother O, Heart murmur
newborn A or B) can cause ABO Flow murmur
incompatibility Respiratory distress
Heart failure
Hepatomegaly
Splenomegaly, hydrops

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Anemia Cont…..
Clinical approach to a newborn with anemia
History taking

Physical Examination

Laboratory investigation

Imaging

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Anemia Cont…..

Clinical approach…….
History taking: Detailed obstetric and neonatal history
Physical examination:
Look for acute blood loss, shock, tachycardia, poor
capillary refill time, poor perfusion and acidosis.
Pallor, jaundice, hepato-splenomegaly, cardiac failure.
Growing preterm baby may manifest with poor weight
gain, apnea, tachypnea or poor feeding.

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Anemia Cont…..
Clinical approach…….
Investigation:
 CBC
 Reticulocyte count (elevates with blood loss and hemolysis)
 Blood group and Rh of the mother and newborn
 DAT/Coombs test
 Apt test
 Bilirubin level
 Blood smear
 Clotting profile
 Bone marrow aspiration (rarely done)
 Screening for infections (TORCH)
 Imaging
 Cranial and abdominalNeonatal
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ultrasound
hematology, birth injuries, and birth defects 16
Anemia Cont…..
Management
Management should ensure cardiorespiratory stability.

Treatment of neonatal anemia may involve simple replacement transfusion,


exchange transfusion, nutritional supplémentation, or treatment of the
underlying cause.
i. Blood transfusion or replacement (E-FMoH NICU guideline)
 In severe cardiopulmonary problem: Transfuse if HCT <40%

 For moderate respiratory distress: Transfuse if HCT < 30%

 For major surgery: Transfuse if HCT <30%

 For asymptomatic anemia: Transfuse if HCT <21%

 If the newborn is in shock, manage accordingly


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Anemia Cont…..
Management…..
Indications for red blood cell transfusion (UNICEF guideline)
Hgb ≤12g/dl or HCT <35% and any of:
Hypovolemic shock
Severe respiratory distress and mechanical ventilation with
Fi02>50%
Severe congenital heart condition; cyanosis, heart failure
Hgb ≤10 or HCT <30% and any of:
Moderate respiratory distress with Fi02 >35%.
Hgb ≤8 or HCT <25% and any of:
Mild respiratory distress, Repeated apnea, Sustained tachycardia,
Inadequate weight gain.
Severe anemia; Hb <7g/dl OR HCT <20
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Anemia Cont…..
Management……
Volume of transfusion:
 Usually packed RBC of 15-20ml/kg
 Volume of Packed RBC to be transfused can be calculated as follows:
 Volume of transfusion = Weight in Kg x blood volume/Kg (desired
HCT- observed HCT) HCT of RBC to be given
o Average HCT of packed RBC is in the range 70-80%
o Transfuse over 2-4 hours time
o The average blood volume for term newborn is 85 ml/kg and
95ml/kg in preterm.
 Always transfuse fresh blood (<7 days old) to avoid related
complications.
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Anemia Cont…..

Management……
ii. Exchange transfusion in:
Chronic hemolytic anemia or hemorrhagic anemia with
evidence of tissue hypoxia
Severe iso-immune hemolytic anemia

Consumption coagulopathy

iii. Nutritional replacement (Iron, folate, vitamin E)

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Anemia Cont…..

Management……
Vitamin K for every bleeding newborn

FFPs for DIC, liver disease

Platelet transfusion for thrombocytopenia

Fresh whole blood for acute blood loss.

Cryoprecipitate for inherited coagulation disorder

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Anemia Cont…..

Management……

Blood transfusion for premature babies (Reading


assignment)

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Anemia Cont…..

Prevention
Vitamin-K: 0.5mg (Preterm) and 1mg (term) IM at birth

To the mother, 10 mg IM 24 hrs prior to delivery if she takes


Phenobarbital, Phenytoin, Warfarin, Rifampicin, or INH

Breast feeding

Minimize unnecessary blood sampling

Timely detect and treat underlying causes

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II. Polycythemia in Neonate
Definition
Polycythemia is defined as a peripheral venous blood of HCT > 65%.
It is an increased total red blood cell mass.
Causes
Twin-to-twin transfusion
Placental insufficiency (maternal HTN, post maturity, maternal
chronic hypoxemia)
Other conditions (IDM, congenital hypothyroidism, trisomy 21, 18
and 13).
Delay in cord clamping
Hyper-transfusion

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Polycythemia Cont…..
Clinical finding
Most are asymptomatic.
Clinical signs observed in polycythemia are often
nonspecific (lethargy, hypotonia, RDS, tachycardia, CHF,
cardiomegaly, poor feeding, oliguria, ARF, thrombosis,
DIC etc.)
Diagnosis
Venous hematocrit: Polycythemia is present when the
central venous hematocrit is >65%.
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Polycythemia Cont…..
Management
Expectant mgt for asymptomatic newborn.
Partial exchange transfusion (PET) in symptomatic baby with venous
HCT>65%.
Partial volume exchange transfusion if venous HCT>70%:
withdrawing blood from umbilical vein and replacing it with normal
saline.
Determine post transfusion hematocrit 4-6 hours after the procedure.
Monitor RBS every 2-4 hours for the first 24 hours.
Keep baby NPO for 4 hours before and after procedure for
prevention of NEC and put on maintenance fluids.
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Polycythemia Cont…..
Management….
Volume of exchange in ml = Blood volume of
newborn x (Observed HCT- Desired HCT)
Observed HCT
Blood volume usually 85ml/kg (term).

Desired HCT most of the time 55%.

Example:

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III. Disseminated intravascular coagulation (DIC)
Definition
 In general, coagulation disorders in the neonate can be classified
as:
o Inherited bleeding disorders (hemophilia A and B, von
Willebrand disease or clotting factor II, VII, X, VIII, or XIII
deficiencies)
o Acquired bleeding disorders (vitamin-K deficiency, DIC)

DIC is a systemic process producing both thrombosis and


hemorrhage.

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III. DIC Cont….
Causes
DIC in newborn is due to infection, cold injury, asphyxia or tissue
damage and necrosis.

Clinical presentation
The baby usually appears sick and may have petechiae, gastrointestinal
bleeding, oozing from vein puncture or from the umbilicus.

Laboratory findings
Decreased platelet count and increased PT and PTT
Decreased fibrinogen

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III. DIC Cont….
Management
Treat the underlying causes of DIC
Vitamin K 1 mg IV
Platelet and fresh-frozen plasma(FFP) 10-20ml/kg for moderate-to-
severe bleeding
Cryoprecipitate (5-10 ml/kg) to treat increase fibrinogen
Recombinant factor VIIa (40–300 mcg/kg
If bleeding persists, do exchange transfusion and continue to transfuse
with FFP and platelet.

NB: The goal of mgt is to maintain: platelets >50,000 to 100,000/mm3,


PT <3 seconds, and fibrinogen >100 mg/dL.
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Birth injuries (Birth Trauma)

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Birth injury Cont….
Objectives
At the end of this session, the students will be able
to:

Define birth injury (trauma)


Describe the different types of birth injuries
Identify the risk factors for birth injuries
Explain the clinical presentations of injuries
Discuss the management of birth injuries
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Birth injury Cont….
Brainstorming

1. Define birth injury.

2. What common birth injuries do you know?

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Birth injury Cont….
Definition
Birth injury and birth trauma can be used interchangeably.
Birth injury is “the impairment of the newborn’s body
function or structure due to adverse influences that occurred
at birth.”
Birth trauma is defined as “a physical injury sustained by a
newborn in the process of birth.”
 A careful assessment is very important at the first physical
examination because some of these injuries can be
recognized lately and complicated after discharge.
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Birth injury Cont….
Definition….
Birth injuries can occur both in vaginal and cesarean
deliveries.
Babies delivered by c/s have a decreased risk of birth
trauma due to:
• The decreased risk of clavicle fractures and injuries to
the brachial plexus and scalp.
Birth injuries can range from minor (petechiae) to severe
(spinal cord injury) resulting in death.

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Birth injury Cont….
Risk factors
Maternal: Primigravida, pelvic abnormalities, obesity,
maternal trauma 1 to 2 weeks before delivery, twin
pregnancy etc.
Obstetrical: Prolonged or very rapid labor, difficult fetal
extraction, abnormal presentation (breech by vaginal
delivery), CPD etc.
• Fetal/neonatal: Macrosomia, very low BW baby, fetal
anomalies, prematurity, shoulder dystocia (brachial plexus
injury, clavicular fracture, humerus fracture).

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Birth injury Cont….
Risk factors (with injuries)
 Vacuum extraction (Subgaleal hemorrhage, depressed skull
fracture, encephalocele, cephalohematoma, intracranial hematoma,
subdural hemorrhage, retinal hemorrhage).
Forceps delivery (Most common cause of facial nerve injury,
cephalohematoma).
Breech presentation (Long bone fractures, intracranial
hemorrhage, brachial plexus, lacerations of the buttocks).
Macrosomia (Clavicle and rib fractures, shoulder dystocia,
cephalohematoma, caput succedaneum).
Shoulder dystocia (Brachial plexus injury, clavicular & humerus).
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Birth injury Cont….
Types of birth injuries
The most common birth injuries are:
Head injuries (Caput succedaneum, Cephalohematoma,
Subgaleal hemorrhage etc.).
Bone fractures (Skull injury, fracture of the clavicle-
most common, humeral, femural).
Nerve injuries (Brachial plexus palsy or Erb palsy,
Cerebral palsy, Facial paralysis)
Spinal cord injuries

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Birth injury Cont….
1. Caput succedaneum
An edematous swelling at birth over the presenting part of the
newborn scalp.
Fluid collected under the scalp or extra periosteal region.
Accumulation of blood and serum (from increased pressure of
the uterine and vaginal walls on the fetal head as the baby moves
through the birth canal.
The risk is high in difficult vaginal delivery and
prolonged labor.
Usually associated with molding, bruising and petechiae.
There is scalp discoloration.
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Birth injury Cont….
Caput…..

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Birth injury Cont….

Caput …..
The swelling is subcutaneous but exterior to the
periosteum.
It crosses the midline of the skull and suture lines
The lesion usually disappears spontaneously without
problem within some weeks after birth.
It rarely causes significant blood loss or jaundice.
Management
It needs only observation and reassurance.
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Birth injury Cont….
2. Cephalohematoma
This is subperiosteal accumulation of blood.
Caused by rupture of superficial veins between the skull
and periosteum.
Common in instrumental deliveries (vacuum and forceps)
It is always confined by suture lines and cannot cross the
suture lines.
There is no scalp discoloration.
An extensive cephalohematoma can result in significant
hyperbilirubinemia.
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Birth injury Cont….
Cephalohematoma…
It can be Bicornouscephalohematoma (looks like a horn)
or Unicornous cephalohematoma.
Diagnosed by P/E and in more serious cases CT scan can
be used to confirm.
Management:-
It can resolve without any treatment
Observation in most cases.
Incision and aspiration is contraindicated.
Anemia and jaundice should be treated as needed.

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Birth injury Cont….
Cephalohematoma

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Birth injury Cont….
3. Subgaleal hemorrhage
 Also called subaponeurotic hemorrhage.
 The least common but the most serious injury caused by
rupture of the emissary veins that connect the scalp veins
to the dural sinuses.
 Blood collects in the soft tissue space between the
epicranial aponeurosis and the periosteum of the skull.

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Birth injury Cont….
Subgaleal…..
o The swelling on the scalp cross the suture lines.
o The “classic triad” is tachycardia, decreasing
hematocrit, and an increasing occipital-frontal
circumference.
o Associated signs include hemorrhagic shock, severe blood
loss, anemia, hypotonia, seizures, and pallor.
o This can be a fatal complication (mortality rate up to 14 %)
of a traumatic birth.

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Birth injury Cont….
Subgaleal…..
Management

Newborn should be admitted to NICU


Assess and treat shock
Daily follow-up of HCT
Minimize manipulation because it is painful
Manage anemia and jaundice as needed

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Birth injury Cont….
Capu S, Cephalohematoma, Subgaleal….

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Birth injury Cont….
Capu S, Cephalohematoma, Subgaleal….

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Birth injury Cont….
Reading assignment
Subdural hemorrhage
Subarachnoid hemorrhage
Intraparenchymal hemorrhage
Intraventricular hemorrhage

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Birth injury Cont….
4. Skull injury
Uncommon in neonates.
Most are associated with a cephalohematoma
It can be linear (nondepressed), or depressed fractures or
occipital osteodiastasis.
Occipital fractures are most commonly associated with
breech deliveries.
The diagnosis is made by skull X-ray or head CT scan.

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Birth injury Cont….
Skull injury.....
Management
An uncomplicated linear fracture does not usually require
therapy.
Depressed fractures require neurological evaluation.
Large fractures need immediate neurologic evaluation.
If leakage of CSF from the nares or ears is noted,
antibiotic therapy should be started and neurosurgical
consultation obtained.

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Birth injury Cont….
5. Clavicular fracture
The most common bone fracture during delivery.
This fracture is seen in vertex presentations with shoulder
dystocia or in breech deliveries when the arms are extended.
Risk factors include macrosomia, shoulder dystocia, and use of
instruments at delivery.
Most fractures are greenstick/incomplete type.

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Birth injury Cont….
Clavicular…..
If the fracture is complete, there is decreased or absent movement of
the arm, gross deformity of the clavicle, pain on palpation, localized
crepitus, petechiae over affected side, and an absent or asymmetric
Moro reflex.
Non-displaced fracture usually presents with no symptoms, and the
Dx is made because of callus formation at 7 to 10 days.
The Dx can be confirmed by chest X-ray.
Bilateral clavicle fractures can occur but are rare.
Brachial plexus injury or phrenic nerve palsy can be associated.

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Birth injury Cont….
Clavicular…..
Management
Should be directed at decreasing pain with analgesics.

The baby’s movement should be limited until the callus begins to


form.

Complete healing is expected and counsel the family.

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Birth injury Cont….
6. Humeral fracture
This fracture usually occurs during a difficult delivery of the arms
in the breech presentation or of the shoulder in vertex presentation.
Clinical presentation: Loss of spontaneous arm movement on
affected side, followed by swelling and pain on movement and
palpation, absent Moro reflex on the affected side.
Diagnosis is by X-ray of the affected arm
Management:
 The fractured humorous requires splinting for two weeks.
 Displaced fractures require closed reduction and casting

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Birth injury Cont….
7. Femural fracture
This fracture follows usually a breech delivery.
Clinical features:
Obvious deformity and swelling of the thigh, decreased movement
and pain on palpation or motion.
Diagnosis: - confirmed by X-ray
Management
Fractures should be treated with traction and suspension of both
legs with a spica cast.
Casting is maintained for about four weeks.
Complete healing without limb shortening is expected.
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Birth injury Cont….
8. Intra-abdominal injuries
Uncommon and infrequent
Most common is liver injury
Intraperitoneal bleeding needs to be ruled out in every
infant who presents with shock and abdominal distension.

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Birth injury Cont….
Reading assignment

Ocular birth trauma (Subconjunctival hemorrhage,


Retinal damage)

Ear, Nose, and Neck birth injuries

Rib fractures

Spinal cord injury

Umbilical cord trauma

Genital trauma
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Birth injury Cont….
9. Cervical nerve root injuries
The common injuries are:

Facial nerve paralysis (Bell’s palsy)

Brachial plexus injuries (Erb palsy or Erb-Duchenne


palsy, total brachial plexus injury, and Klumpke palsy).

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60
birth defects
Birth injury Cont….
Bell’s palsy
This is a loss of voluntary muscle movement in a
newborn’s face.
Due to pressure on the facial nerve just before or at the
time of birth.

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Birth injury Cont….
Bell’s palsy…..
Manifestation and Dx:
 The baby may unable to close his/her eyelid on the affected
side.
 The face below eyes may appear uneven while crying.
 Mostly, it affects only one side of the face, rarely both sides
 No movement on the affected side.
Management:
 Physical therapy to stimulate facial nerve
 Improve the coordination of facial muscles
 Massaging the forehead and cheeks
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Birth injury Cont….
Brachial plexus injuries
The brachial plexus is a network of nerves in the shoulder that
carries movement and sensory signals from the spinal cord to the
arms and hands.

It is caused by excessive traction on the head, neck, and arm during
birth.

Nerves between neck and shoulder stretched or compressed during


the process of birth.

Risk factors include macrosomia, shoulder dystocia, breech


presentation.
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Birth injury Cont….
Brachial plexus….
Injury usually involves the nerve root, specially where the roots come
together to form the nerve trunk of the plexus.

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Birth injury Cont….
Brachial plexus….
Includes:
o Erb palsy or Erb-Duchenne palsy,

o Klumpke palsy, and

o Total brachial plexus injury (Reading assignment)

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Birth injury Cont….
Brachial plexus….
Erb palsy or Erb-Duchenne palsy
Involves the upper trunks (C5, C6 and occasionally C7) and is the
most common type of brachial plexus injury.
Clinical presentation
 The arm is typically adducted and internally rotated at the
shoulder.
 There is extension and pronation at the elbow and flexion at the
wrist and fingers in the characteristic “waiter’s tip” posture.
 Moro is absent on the affected side.
 The grasp reflex is intact.
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Birth injury Cont….
Brachial plexus….
Klumpke’s palsy
Involves injury C7/C8 to T1 and is the least common
injury.
In this case, the grasp reflex is absent and there is sensory
impairment on the ulnar side of the forearm and hand.

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Birth injury Cont….
Brachial plexus….
Management
Immobilization and physical therapy help to prevent
contractures until the brachial plexus recovers.
Splinting should be avoided as contractures in the shoulder
girdle may develop.
Wrist and digits splints may be useful
Recovery depends on the extent of the lesions and is usually
good but may take many months.

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Birth injury Cont….
Brachial plexus….
Management……
 Erb-Duchenne paralysis, one can see improvement in 2 weeks, and
recovery is usually complete by 3 to 4 months.
 Prognosis varies from 0% to 90% recovery.
 In Klumpke paralysis, the prognosis is poorer, muscle atrophy and
contractures can occur.
 Orthopedic consultation is recommended if no improvement of range of
motion is seen.
 Most infants recover fully by three months of age.
 In case with slow recovery, electromyography and nerve conduction
studies are indicated
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Common congenital malformation of neonate
(Birth defects)

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Congenital malformation Cont….

Objectives
At the end of this session, the students will be able to:
Define congenital anomalies in neonate

Recognize common congenital malformations in neonate


and their risk factors

Discuss management of common malformations

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Congenital malformation Cont….

Definitions
A congenital anomaly (also called birth defect, congenital
malformation, or congenital abnormality).
It is defined as a structural or functional defect of a newborn.
A structural defect is an abnormality in the structure of the parts
of the body organ.
Structural defects most often occur during the critical period of
fetal development in the first trimester.
Structural defects include heart defects, cleft palate, neural tube
defects, club foot, and others.
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Congenital malformation Cont….

Definitions….
A functional defect is defined as a defect in how the body
system works (eg, metabolic disorders, brain and nervous system
problems, immune disorders, sensory disorders).
Approximately 6% of all newborns have a congenital anomaly
worldwide.
Congenital malformations account for 20% of the cases of
neonatal deaths.

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Congenital malformation Cont….

Causes of congenital anomalies


Genetic causes (chromosomal disorders, single-gene defects,
autosomal dominant or recessive inheritance, and others).
Maternal conditions during pregnancy (infections, chronic
maternal diseases, smoking, medications, poor nutrition,
environmental factors, TORCHZ, alcohol and drug use).
Multifactorial causes (genetic plus environment)
Unknown etiologies

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Congenital malformation Cont….

Upper GI and respiratory tract defects


 Cleft lip/Palate, Esophageal atresia & TEF
 Choanal Atresia
Abdominal wall defects
 Gastrochiasis, Omphalocele, Diaphramatic hernia
CNS defects
 NTDs (Meningocele, Myelomeningocele, Anencephaly, Spinal Bifida,
Hydrocephalus, Microcephaly)
MSS and extremity disorders
 Polydactyly and sydactyly, Talipes, Clubfoot
Genito-urinary defects
 Crypthocisim, Hypospadias /Epispadias, Ambiguous genitalia
Chromosomal syndromes (Trisomy 21, 18, and 13)
Congenital heart disease
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Congenital malformation Cont….

Diagnosis of neonatal congenital anomalies


(U/S scan, fetal echocardiography, MRI, fetal DNA analysis,
maternal α-fetoprotein, embryoscopy, amniocentesis, molecular
genetic testing etc..
Detailed family history
Detailed pregnancy history
Detailed physical examination

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Congenital malformation Cont….

1. Cleft Lip (CL) and Cleft Palate (CP)

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Congenital malformation Cont….

CL and CP….
Cleft lip and cleft palate are common birth defects.
Cleft lip may occur either in association with cleft palate or in the absence
of cleft palate, and is generally referred to as “cleft lip with or without
cleft palate” (CL/P).
CL may be unilateral in 80% or bilateral in 20% of cases.
When unilateral, it is more common on the left side (70%).
Causes
Folic acid deficiency
Use of methotrexate in pregnant mother
Environmental factors such as cigarette smoking and alcohol use in
pregnancy
Use of anticonvulsants (phenytoin and valproic acid)
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Congenital malformation Cont….

CL and CP….
Management
Feeding is challenging

Use soft artificial nipples with large openings and a squeezable


bottle.
Instruct parents on difficulties of feeding the risk of aspiration.

Look for associated anomalies (cardiac defects, vertebral anomalies,


limb deformities and renal anomalies).
Refer for subsequent management (surgery, follow up and speech
rehabilitation).
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Congenital malformation Cont….

2. Esophageal atresia (EA) & Tracheoesophageal Fistula (TEF)


Esophageal atresia (EA) is the most frequent congenital anomaly of the
esophagus.
More than 90% of newborns with EA have an associated
tracheoesophageal fistula (TEF).
Clinical features
Excessive secretion at the mouth and nose after birth.

Coughing, cyanosis, and respiratory distress aggravated by feeding.


Diagnosis
History of maternal polyhydramnios
Failure to pass a nasogastric tube
Chest x- ray
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Congenital malformation Cont….

EA & TEF…..
Management
Maintain patent airway with frequent suctioning and positioning.
Keep the newborn NPO and put him/her on maintenance fluid.
Keep the newborn in prone position to minimize aspiration.
N.B. Head of the bed should be elevated 30 degrees to diminish
reflux of gastric contents into the fistula.
If possible, CPAP and mechanical ventilation of these babies should
be avoided until the fistula is controlled.
Exclude associated anomalies.
Arrange transportation and referral/consult for surgical management.
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Congenital malformation Cont….

3. Abdominal wall defect .... (Omphalocele)


Omphalocele is a membrane-covered herniation of the bowel and
occasionally other organs (including stomach, spleen, and liver) into the
umbilical cord.
There is a high incidence of associated anomalies (cardiac, GI, and
chromosomal—eg, trisomy 13).
Management
Covering the defect with a sterile dressing soaked with warm saline to
prevent fluid loss
 NGT decompression
 IV fluids and glucose, Antibiotics, Keep NPO
Urgent surgical consultation
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Congenital malformation Cont….

Abdominal (Omphalocele)…..

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Congenital malformation Cont….

Abdominal…..(Gastroschisis )
In gastroschisis, the intestine extrudes through an abdominal wall defect
lateral to the umbilical cord.
There is no membrane or sac and no liver or spleen outside the
abdomen.
Gastroschisis usually is not associated with other anomalies
Management
Covering the defect with a sterile dressing
Soaked with warm saline to prevent fluid loss
NGT decompression, Keep NPO, IV fluids and glucose, Antibiotics
Urgent surgical consultation

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Congenital malformation Cont….

Abdominal…..

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Congenital malformation Cont….

4. CNS defects (NTDs)


 NTDs are malformations of the developing brain and spinal cord.
Anencephaly
Is a condition where the roof of the skull and the posterior occipital
bones are defective or absent.
Neural tissue is exposed through an uncovered cranial opening.
This condition is not compatible with survival.

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Congenital malformation Cont….

CNS defects (NTDs)….Encephalocele


Herniation of brain tissue outside the cranial cavity, usually
a closed lesion.
Approximately 80% of encephaloceles occur in the occipital
region.

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Congenital malformation Cont….

CNS defects (NTDs)…. Spina bifida


 Is midline defect of the vertebral bodies.
Usually occurs in the lumbar and sacral regions of the spinal
cord.
May be covered with patches of hair, or discoloration of the
overlying skin.
Most patients are asymptomatic and have no neurologic
abnormalities.
The diagnosis can be confirmed by vertebral x-ray

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Congenital malformation Cont….

CNS defects (NTDs)…. Spina bifida

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Congenital malformation Cont….

CNS defects (NTDs)…. Meningocele


Is the herniation of the meninges through a defect in the
posterior vertebral column.
Appears as midline sac filled with cerebrospinal fluid (CSF)
mostly covered by skin.
In contrast to myelomeningoceles, meningoceles (closed
lesions involving the meninges only) usually do not result in
neurologic deficits.
Those newborns with leaking CSF need urgent referral for
immediate surgical treatment to prevent meningitis.

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Congenital malformation Cont….

CNS defects (NTDs)…. Myelomeningocele


Most severe form of NTDs.
Characterized by protrusion of spinal cord and meninges through
a defect in the spinal cord.
Appears as a saclike cystic structure covered by a thin-layered
membrane
The covering membrane may rupture easily and results in CSF
leak and meningitis.
The newborn may have flaccid paralysis (weak extremities).
Commonly associated with club-feet and hydrocephalus.

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Congenital malformation Cont….

CNS defects (NTDs)…. Hydrocephalus


It is a condition caused by an imbalance between CSF
production, absorption, and impaired CSF circulation.
Hydrocephalus is associated with increased intracranial
pressure (ICP) and an enlarging head.
Causes
o Congenital infections (TORCH)
o Meningitis
o Following intracranial hemorrhage

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Congenital malformation Cont….

CNS defects (NTDs)…. Hydrocephalus

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Congenital malformation Cont….

CNS defects (NTDs)…. Hydrocephalus


Clinical features and Dx
Big head –head circumference > normal
Full and tense fontanelles
Seizure
Skull x-rays (widening of sutures)
Transfontanelle ultrasound (ventricular or subarachnoid space
enlargement)
Treatment
Treatment depends on the cause

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Congenital malformation Cont….

CNS defects (NTDs)…. Hydrocephalus


Medical management includes:
Acetazolamide – to decrease CSF production
Mannitol – to decrease high intracranial pressure (ICP)
Furosemide – if mannitol is not available
Removal of CSF by intra-lumbar puncture
The above measures may provide temporary relief, but not
recommended for long-term use.
Most cases of hydrocephalus require ventriculoperitoneal
shunts or ventriculostomy, so referral or neurosurgical
consultation should be considered.

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Congenital malformation Cont….

5. MSS and extremity disorders


Polydactyly and sydactyly
Clubfoot/Talipes
Palmar & plantar crease

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Congenital malformation Cont….

MSS and extremity…..Polydactyly

A condition in which a baby is born with one or more extra digits.


This condition is associated with a strong family history.
A radiograph of the extremity is usually obtained to verify
whether any bony structures are present in the digit.
If there are no bony structures, a suture can be tied around the
digit until it falls off.
If bony structures are present, surgical removal is necessary.

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Congenital malformation Cont….

MSS and extremity…..Polydactyly

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Congenital malformation Cont….

MSS and extremity…..Syndactyly


A condition occurs when two or more fingers fail to separate.
Abnormal fusion of the digits; most commonly involves the third and
fourth fingers and the second and third toes.
Severe syndactyly can involve all 4 digits being fused together.
Surgery is performed when the neonates are older.

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Congenital malformation Cont….

MSS and extremity….. Club foot


Also called talipes equinovarus where a baby is born with a
foot or feet that turn inward and downward.
If this problem can be corrected with gentle force, it will
resolve spontaneously.
If not, orthopedic treatment and follow-up are necessary.

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Congenital malformation Cont….

6. Genitourinary anomalies

Crypthocisim

Hypospadias /Epispadias

Ambiguous genitalia

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Congenital malformation Cont….

Genitourinary…..Cryptorchidism
Also known as undescended test.
A condition in which one or both of the testes fail to descend from
the abdomen into the scrotum.
The testis are not found in the scrotum on routine examination.
Infertility, testicular cancer, hernia and testicular torsion are
associated problems.
Empty scrotum and inguinal mass are common findings.

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Congenital malformation Cont….

Genitourinary…..Cryptorchidism
Management
In most cases, testis may descend spontaneously in the first
six months.
Surgical management or referral will be considered within 9-
15 months if there is no spontaneous descent on follow up.

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Congenital malformation Cont….

Genitourinary…..Hypospadias
A birth defect in boys in which the opening of the urethra is
not located at the tip of the penis.
The abnormal opening can form anywhere from just below
the end of the penis.
Abnormal location of the urethral meatus on the ventral
surface of the penis.

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Congenital malformation Cont….

Genitourinary…….Hypospadias
Management
Early recognition and referral is useful for counseling and
planning timing of surgery.
Parents should be reassured that hypospadias are common
condition which can be corrected with surgery.
Surgery is usually undertaken between 6 and 18 months age.
It is critical that parents are told that circumcision should be
avoided.

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Congenital malformation Cont….

Genitourinary……Ambiguous genitalia
It is a rare condition in which an infant's external genitals
don't appear to be clearly either male or female.

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Congenital malformation Cont….

Genitourinary anomalies……
Reading assignment
o Epispadiasis
o Dorsal hood
o Chordee
o Megalourethra

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Congenital malformation Cont….

8. Chromosomal anomalies
Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome
Trisomy 13 (Patau syndrome)

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Congenital malformation Cont….

Trisomy 21 (Down syndrome)


Down Syndrome is the most common chromosomal
abnormality among live born infants.
It is characterized by a variety of dysmorphic features,
congenital malformations, and other health problems and
medical conditions.
DS is also associated with cognitive impairment.

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Congenital malformation Cont….

Trisomy 21 (Down syndrome)….Characterstics


 Flat facial profile
 Low-set ears
 Protruded tongue
 Small chin
 Short neck
 Flat occiput
 Thin & silky hair
 Hypotonia
 single transverse palmar crease
 Poor Moro reflex
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Congenital malformation Cont….

Trisomy 21 (Down syndrome)…..


Diagnosis
Suspected from the characteristic phenotypic/physical features
present in the newborn.
Confirmed with a karyotype, performed on a blood sample.
Laboratory tests
Determine CBC since they are at risk of polycythemia,
thrombocytopenia or thrombocytosis.
Serum bilirubin
Thyroid function test
ECG 04/06/2024 Neonatal hematology, birth injuries, and birth defects 111
Congenital malformation Cont….

Trisomy 21 (Down syndrome)…. Management


Inform and counsel parents

Treat associated problems (polycythemia,


hyperbilirubinemia, hypothyroidism…)

Refer for detailed evaluation and management.

Trisomy 18 & 13 (Reading assignment)

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Congenital malformation Cont….

Prevention mechanisms of birth defects

(Reading assignment)

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References

1. Neonatal Intensive Care Unit (NICU) Training


Participants’ Manual, 2021.

2. GOMELLA’S NEONATOLOGY Management, Procedures,


On-Call Problems, Diseases, and Drugs, 8th edition.

3. UNICEF Neonatal care clinical guideline, 2018.

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