Neonatal Medicine Flashcards
Define Stillbirth.
Foetus born with no signs of life ≥24 weeks of pregnancy.
Define Perinatal Mortality Rate.
Stillbirths + deaths within the 1st week per 1000 live births and stillbirths.
Define Neonatal Mortality Rate.
Deaths of live-born infants within the first 4 weeks after birth per 1000 live births.
Define Neonate.
Infant ≤28 days old.
What is the routine examination of the newborn?
- Birthweight and BW centile - gestational age noted
-
General observation
- Appearance, posture, movements, plethoric or pale, jaundice, rashes
-
Head circumference, fontanelle, face, red eye reflex, palate, clavicles
- Cephalohematoma = benign - margins of skull sutures → resolve over few months
- Caput Succedaneum = crosses Suture lines, resolve over few days, start at birth
- Subaponeurotic/subgaleal haemorrhage = diffuse, boggy swellings with hypovolaemia and shock
- Tense fontanelle = raised ICP, caput succedaneum, cephalohematoma, chignon → cranial USS
- Depressed fontanelle = dehydrated
- Hearing test
-
Breathing, chest wall movement, HR, abdomen, cord, hernias, pectus
- Fall off by 40 days
- Femoral pulses, genetalia, anus
-
Muscle tone, whole of back and spine, DDH, hands and feet
- Fully dorsiflex the foot to touch lower leg to see if true talipes equinovarus
-
Primitive reflexes
- Moro, stepping, asymmetric tonic, palmar, Babinskis, etc.
What biochemical screening is done at 7 days old?
- Congenital hypothyroidism
- SCD
- CF - if +ve = check 4 DNA mutation panels
- 6 inherited metabolic diseases
- PKU
- MCADD
- Glutaric Aciduria T1*
- Isovaleric Acidaemia
- Homocystinuria
- Maple Syrup Urine Disease
Describe hearing tests given to neonates?
- 1st line: Evoked Otoacoustic Emission (EOAE) Testing – all babies receive this test!
- Sound emitted into earphone to evoke an echo or emission from the ear if cochlear function is normal
- 2nd line: Automated Auditory Brainstem Response (AABR) Audiometry
- A computer will analyse the EEG waveforms evoked in response to a series of clicks
- Indications
- Fails EOAE
- Too young for a regular test
- Severe learning difficulty
What are the indications for Automated Auditory Brainstem Response (AABR) Audiometry?
- Fails EOAE
- Too young for a regular test
- Severe learning difficulty
What test should be performed if a neonate misses their EOAE?
Distraction testing
- Make sounds and observe infant’s behaviour to sound
- Carried out at 7-9 months
What is Visual Reinforcement Audiometry?
- Condition child to respond to sound and once they are trained
- Reduce the volume until no longer respond as expected from conditioning
- Carried out between 6m and 3 years - best 10-18 months
What audiometry tests can be carried out on toddlers?
- Visual reinforcement audiometry
- Performance and speech discrimination testing
What is Pure Tone Audiometry?
- Child wears headphones and responds when they hear a sound.
- ≥4 year old
What are the 3 main components of the neonatal and infant physical examination?
-
Observation
- Sex determination
- Cleft palate or foot
- Respiratory effort
- Skin colour
-
Body measurements and Vitals
- Weight
- Length
- Head
- Vitals
- RR 35-60
- HR 120-160
-
Exam of body and organs
- Head to toe
What is Positional talipes?
Feet remain in their in-utero position
What is the management of positional talipes?
Physiotherapy
What is Talipes equinovarus?
Inverted and supinated feet - Club Foot
What are the risk factors for talipes equinovarus?
- Oligohydramnios
- Associated with DDH
What are the signs and symptoms of talipes equinovarus?
- Foot cannot be fully dorsi-flexed to touch front of lower leg
- Inverted and supinated feet
- Affected foot is shorter and calf muscles are thinner
What is the management of talipes equinovarus?
- Mild-moderate = Ponsetti method - plaster casting and bracing
- Severe = Surgery
What is Hypoxic Ischaemic Encephalopathy (HIE)?
Ischaemic brain injury as a consequence of perinatal asphyxia.
What is the consequence of untreated severe HIE?
Cerebral palsy
What are the causes of HIE?
- Failure of gas exchange across placenta
- Interruption of umbilical blood flow - i.e. shoulder dystociia
- Inadequate maternal placental perfusion
- Compromised foetus - i.e. IUGR
- Failure to breathe at birth
What are the signs and symptoms of mild HIE?
- Irritable infant
- Responds excessively to stimulation
- Staring eyes
- Hyperventilation
- Hypertonia
- Complete recovery can be expected
How is HIE graded?
Response within first 48 hours
What are the signs and symptoms of moderate HIE?
- Abnormalities of movement
- Hypotonic
- Cannot feed
- Seizures
- Fully resolved by 2 weeks of age = good long-term prognosis
- Persistent past 2 weeks = bad prognosis
What are the signs and symptoms of severe HIE?
- No normal movements or response to pain
- Tone in limbs fluctuates hypo- to hyper-tonic
- Seizures - prolonged and refractory to treatment
- Multi-organ failure may be present
- 30-40% mortality
- 80+% have neuro-disability (if not cooled) → cerebral palsy
What is the management of HIE?
-
Supportive
- Respiratory support
- Anticonvulsants - treat seizures
- Fluid restriction
- Inotropes - treatment of hypotension
- Electrolytes and glucose - treat hypoglycaemia and electrolyte imbalances
- Therapeutic Hypothermia
What is Cerebral Palsy?
Abnormality of movement and posture, causing activity limitation attributed to non-progressive disturbances that occurred in the developing foetal or infant brain.
- Clinical features can emerge over time
What is the diagnosis of a brain injury after 2 years old?
Acquired Brain Injury
What are the risk factors for cerebral palsy?
-
Antenatal
- Preterm birth
- Chorioamnionitis
- Maternal infection
-
Perinatal
- LBW
- HIE
- Neonatal sepsis
-
Postnatal
- Meningitis
What are the causes of cerebral palsy?
- Antenatal - 80%
- Vascular occlusion
- Cortical migration disorders
- Structural maldevelopment
- Genetic syndromes
- Congenital infection
- HIE during delivery - 10%
- Postnatal - 10%
- PVL 2nd to ischemia ± severe intraventricular haemorrhage
- ↑ survival of very premature babies = ↑CP incidence
- PVL 2nd to ischemia ± severe intraventricular haemorrhage
What are the signs and symptoms of cerebral palsy?
-
Delayed milestones
- Non-progressive condition so NO LOSS of previously attainted milestones
- Persistent primitive reflexes
-
Abnormal limb or trunk posture and tone in infancy
- Stiff legs, scissoring of legs
- Unable to lift head
- Unable to weight bear
- Rounded back when sitting
- Hypotonia (floppy)
- Spasticity (stiff)
- Fisted hands
- Feeding difficulties - slow, gagging, vomit
- Oro-motor miscoordination
- Abnormal gait once walking
- Hand preference before 1 year old → esp. spastic unilateral CP
How is gross motor function classified in cerebral palsy?
Gross Motor Function Classification System
- Level 1 = Walks no limitations
- Level 2 = Walks some limitations
- Level 3 = Walks with handheld mobility device
- Level 4 = Self-mobility with limitations - may use powered mobility
- Level 5 = Manual wheelchair
What are the types of cerebral palsy?
- Spastic - 90%
- Unilateral/Hemiplegia
- Bilateral/Quadriplegia
- Diplegia
- Dyskinetic - 6%
- Ataxic/Hypotonic - 4%
What is spastic cerebral palsy?
- Damage to UMN (pyramidal tracts) pathway → increased tone (spasticity), brisk reflexes, extensor plantar, ‘clasp knife’ rigidity
- Clasp knife = increased tone suddenly gives under pressure
- Dynamic catch → faster the muscle stretched, greater the resistance, “velocity dependent”
- Presents early, even neonatally as hypotonia
What are the features of unilateral/hemiplegia cerebral palsy?
Unilateral arm and leg - face spared
- Presents 4-12 months with:
- Fisting of affected hand and asymmetric hand function
- Flexed pronated arm
- With a tiptoe walk on affected side
- Initially flaccid but then ↑↑ tone
- Likely normal PMHx and unremarkable birth Hx
What are the features of bilateral/quadriplegia cerebral palsy?
All 4 limb - often severe
- Involves the trunk
- Opisthotonos (extensor positioning)
- Poor head control
- Low central tone
- Associated seizures
- Microencephaly
- Moderate to severe learning disability
- History of hypoxic-ischemic encephalopathy (HIE)
What are the features of diplegia cerebral palsy?
Legs affected to a greater degree - but all 4 limbs affected
- Abnormal walking
- Difficulties with functional use of hands
- Associated with preterm birth damage and PVL
What is dyskinetic cerebral palsy?
- Involuntary, uncontrolled movements
- Caused due to damage to basal ganglia
- HIE
- Kernicterus
- Variable muscle tone predominated by primitive motor reflexes
- Chorea → irregular, sudden, brief non-repetitive movements
- Athetosis → slow, writhing movements distally → fanning fingers
- Dystonia → simultaneous contraction of agonist/antagonist muscles → twisted appearance
What is ataxic cerebral palsy?
- Damage to cerebellum → causes hypotonia, ataxia, mal-coordination, delayed motor development ± intention tremor
- Genetically determined
What are the appropriate investigations for suspected cerebral palsy?
- MRI → can determine cause if not clear from history, developmental progress, clinical examination and cranial ultrasound
- Follow-up MDT → if child has risk factors for CP, offer MDT follow-up for 2 years
- Referral of all children with persistent toe walking
What are the early signs and symptoms of cerebral palsy?
- Unusual fidgety movements or abnormal movement
- Abnormalities of tone → includes hypotonia, spasticity or dystonia
- Abnormal motor developing
- Feeding difficulties
- Delayed motor milestones
- Not sitting by 8 months
- Not walking by 18 months
- Hand preference before 1 year
What are the red flag features for neurological conditions that aren’t cerebral palsy?
- Absence of risk factors
- Family history of progressive neurological disorder
- Loss of already attained cognitive or developmental abilities
- Development of unexpected focal neurological signs
- MRI findings suggestive of progressive neurological disorder
- MRI findings not in keeping with CP
What is the management of cerebral palsy?
-
Info about prognosis to parents / parental education
- Walking - children who can sit by age 2 years are likely to be able to walk unaided by 6 years old
- Speech - 50% have difficulties with communication with 33% have difficulties with speech and language
- Life Expectancy - more severe the CP the greater the likelihood of reduced life expectancy
- Support Groups → SCOPE disability charity
-
Medication
- Stiffness = 1st : diazepam → 2nd: baclofen
- Sleeping = melatonin
- Constipation = Movicol
- Drooling = anticholinergic
-
Paediatrician - management of medical problems
- 33% have epilepsy
- Physiotherapy - encourage movement, improve strength and stop muscles from losing range of motion
- Speech therapy
- Occupation therapy - identify everyday tasks that may be difficult and help make these tasks more accessible
What counselling should be given to parents with a child with cerebral palsy?
- Explain the diagnosis → damage to the brain that would have occurred early in development
- The damage to the brain doesn’t get worse, but the way it manifests will change as the child gets older
- Refer to MDT and especially a paediatrician specialising in developmental disorders
- Long-term management will include physiotherapy, speech and language therapy and special educational needs
- Medications can also be given to help with symptoms
What is Necrotising Enterocolitis?
Serious intestinal injury after a combination vascular, mucosal, toxic and other insults to an immature gut → exact cause is unknown
What is the most common cause of surgical emergency in newborn babies?
Necrotising enterocolitis → 20% morbidity and mortality rate
What are the risk factors for necrotising enterocolitis?
- Prematurity - 7% of premature babies get NEC
- LBW
- PDA - or other serious cardiac deformity
What are the signs and symptoms of necrotising enterocolitis?
- Early signs
- Biliary vomiting
- Feed intolerance
- Begins after starting enteral feeding
- Abdomen distension
- Blood-stained stool
- Rapid deterioration and shock
What are the appropriate investigations for suspected necrotising enterocolitis?
- AXR – ‘gas cysts’ in bowel wall
- Blood cultures
What is the management of necrotising enterocolitis?
- ‘Bell’ staging to decide on management
- Bowel rest - stop oral feed and switch to parenteral nutrition
-
Broad-spectrum antibiotics - cefotaxime/tazocin and vancomycin
- Stage IA/IB = 3 days
- Stage IIA = 7-10 days
- Stage IIB/III =14 days
- Laparotomy - if perforated
What are the complications of necrotising enterocolitis?
- 20% mortality/morbidity in the acute scenario
- Development of strictures
- Malabsorption - if extensive bowel resection is necessary
What percentage of newborns become visible jaundiced?
What are the causes of this?
- >50%
- Physiological Hb release from RBC - high Hb at birth
- Breast milk jaundice - only >24hrs
- RBC lifespan of 70 days rather than 120 days in adults
- BR metabolism less efficient in 1st few days of life
What may jaundice in a neonate <24hrs be a sign of?
- Kernicterus
- Haemolytic anaemia
- G6PDD
- PK deficiency
- Hereditary spherocytosis
- Infection/sepsis
- Rhesus disease
- Liver/metabolic disease
- Gilbert’s
- Crigler-Najjar
- Dubin-Johnson
What is kernicterus?
A form of encephalopathy due to deposits of unconjugated bilirubin in basal ganglia.
What are the signs and symptoms of kernicterus?
Spectrum from severe damage → death
- Lethargy
- Poor feeding
- Irritability
- Increased muscle tone (arched back)
- Seizures
- Coma
- Monitor closely with Rhesus disease
What is the prognosis of kernicterus?
- May develop into
- Cerebral palsy
- Learning difficulties
- Sensorineural deafness
What may jaundice in a neonate between 2 days to 2 weeks be a sign of?
- Physiological jaundice
- Breastfeeding jaundice
- Metabolic
- Gilbert’s
- Crigler-Najjar
- Dubin-Johnson
- Haemolysis
- G6PDD
- PK deficiency
- Hereditary spherocytosis
- Infection/Sepsis
- Congenital hypothyroidism
- Dehydration/Bruising/Polycythaemia
What may jaundice in a neonate >2 weeks be a sign of?
- Physiological jaundice
- Breastfeeding jaundice
- Pyloric stenosis
- Congenital hypothyroidism
- Biliary atresia
- Inherited metabolic conditions
- Gal-1 PUT deficiency
- A1AT deficiency
- Tyrosinaemia Type 1
- Peroxisomal disease
- Ascending cholangitis
- Cystic fibrosis
- Idiopathic neonatal hepatitis
Which of the causes of neonatal jaundice are due to cBR opposed to uBR?
- Congenital hypothyroidism - also uBR
- Biliary atresia
- Inherited metabolic conditions
- Ascending cholangitis
- Cystic fibrosis
- Idiopathic neonatal hepatitis
What are the appropriate investigations for neonatal jaundice?
-
Measure Bilirubin
- <24 hours = Serum BR
- Direct = total BR : Indirect = uBR → can assume tBR = uBR
- 24 hours to 2 weeks = Transcutaneous BR
- Spectroscopy to measure light reflection from the skin → if result is >250 μmol/L → check the result by measuring serum bilirubin
- >2 weeks = Split serum BR
- <24 hours = Serum BR
- Assess risk of developing kernicterus
-
Investigations of Underlying Cause
- Haematocrit
- Blood group of mother and baby
- DAT test - Coombs if <24hrs
- FBC / blood film
- G6PDD levels
- MC&S of blood, urine and/or CSF - if suspected infection
- TSH
- LFTs
- Osmotic fragility - hereditary spherocytosis
What are the risk factors for developing kernicterus?
- Serum bilirubin >340 μmol/L in babies >37 weeks’ gestation
- Rapidly rising bilirubin of >8.5 μmol/L per hour
- Clinical features of kernicterus
- Poor feeding
- Extreme lethargy
- Hypotonia
- High-pitched cry
What is the management of neonatal jaundice?
- No treatment needed
-
Phototherapy ± IVIG → converts uBR to water-soluble cBR
- Repeat BR measurement every 4-6 hours until drops below threshold or stable
- Ensure short breaks for breastfeeding
- Protect eyes
- Monitor temperature
- Stop once BR >50umol/L below threshold for treatment
- Check for rebound hyperbilirubinaemia with serum BR measurement 12-18 hours after
-
Intensive phototherapy given if
- Rapidly rising serum BR
- Serum BR within 50umol/L of exchange transfusion threshold (after 72hrs of life)
- BR level fails to respond after 6 hours of therapy
- Repeat BR measurement every 4-6 hours until drops below threshold or stable
- Exchange transfusion + Phototherapy ± IVIG + Folic acid after (to prevent anaemia)
When is IVIG used in cases of neonatal jaundice?
- Rhesus disease
- Lower albumin → lower ability to bind BR
- ABO incompatibility
- Leaky BBB
What counselling should be given to parents with a child with neonatal jaundice?
- Explain that neonatal jaundice is common and usually harmless
- If <1 day, >14 days or >7 days of first presentation of jaundice = explain you will investigate the cause
- If physiological explain why it happens
- Explain treatment - light therapy
- Reassure that the light therapy is not harmful - but eyes will be protected, and blood samples will need to be taken quite regularly
- Encourage frequent breastfeeding (e.g. every 3 hours) and to wake the baby up to feed
- Explain need to stay in after phototherapy has stopped to check rebound hyperbilirubinaemia
- Refer to resources:
- NHS Choices Neonatal Jaundice Factsheet
- The Breastfeeding Network
- Bliss - for premature and sick babies
What are the signs of respiratory distress in a neonate?
- High RR (>60)
- Laboured breathing
- Chest wall recessions
- Nasal flaring
- Expiratory grunting
- Cyanosis
What is a consequence of high O2 level treatment in a neonate?
Retinopathy of prematurity
What is Transient Tachypnoea of the Neonate?
Delay in resorption of lung fluid resulting in respiratory distress.
What is the commonest cause of respiratory distress in term infants?
Transient Tachypnoea of the Neonate
- More common in C-Section deliveries
What are the appropriate investigations for suspected transient tachypnoea of the neonate?
- Obs → cyanosis, high RR
- CXR → fluid in horizontal fissure
- Diagnosis made after exclusion of other causes
What is the management of transient tachypnoea of the neonate?
- Usually settles within first day of life
- Additional O2 if required
What is Persistent Pulmonary Hypertension?
High pulmonary vascular resistance → right to left shunting within lungs and at atrial and ductal levels.
What is associated with persistent pulmonary hypertension in a neonate?
- Birth asphyxia
- Meconium aspiration
- Septicaemia
- RDS
What are the signs and symptoms of persistent pulmonary hypertension?
- Cyanosis after birth
- Absent heart murmurs with signs of HF
What are the appropriate investigations for suspected persistent pulmonary hypertension?
- CXR → normal sized heart but some pulmonary hypovolaemia
- Echocardiogram → ensure no cardiac defect
What is the management of persistent pulmonary hypertension?
- Medications:
- O2
- Inhaled NO
- Sildenafil
- Ventilation:
- Mechanical ventilation / Circulatory support
- High-frequency ventilation
- If Severe = ECMO ± heart and lung bypass
- Mechanical ventilation / Circulatory support
What is the prognosis of persistent pulmonary hypertension?
- Mortality = <10%
- 25% likely to have some impairment such as learning difficulties or deafness
What is Chronic Lung Disease of Prematurity?
Lung damage due to pressure and volume trauma from artificial ventilation, O2 toxicity, and infection.
- Often defined by an O2 dependence at 36w corrected GA
What are the risk factors for chronic lung disease of prematurity?
- Premature infants
- LBW
- Low GA
What are the signs and symptoms of chronic lung disease of prematurity?
- Respiratory distress
- Increasing O2 requirements
- Poor feeding
- Poor weight gain
What are the appropriate investigations for suspected chronic lung disease of prematurity?
- CXR → widespread opacification
- VBG or CBG
- Acidosis
- Hypercapnia
- Hypoxia
What is the management of chronic lung disease of prematurity?
-
Respiratory support
- Prolonged artificial ventilation → wean to CPAP → wean to additional O2
-
Corticosteroid therapy
- Dexamethasone for short term clinical improvement
- Limit use due to concern about abnormal neuro development and other adverse effects
- Dexamethasone for short term clinical improvement
How can chronic lung disease of prematurity be prevented?
- Minimise ventilation-associated lung injury using strict monitoring and maintaining of tidal volume
What is Respiratory Distress Syndrome in a Neonate?
Deficiency of surfactant - phospholipids and proteins produced by type II pneumocytes
What are the risk factors for respiratory distress syndrome in a neonate?
- Prematurity
-
Decreases with increasing gestation
- 50% of 26-28w
- 25% of 30-31w
-
Decreases with increasing gestation
- Male
- DM mothers - due to delayed lung maturation
- CS
- 2nd born of premature twin
What are the signs and symptoms of respiratory distress syndrome in a neonate?
- At delivery or within 4 hours of birth
- High RR (>60)
- Laboured breathing with recessions and nasal flaring
- Expiratory grunting - trying to make +ve airway pressure
- Cyanosis
What are the appropriate investigations for suspected respiratory distress syndrome in a neonate?
- Clinical diagnosis
- Pulse oximetry
- CXR
- Ground-glass appearance
- Pneumothorax (from ventilation)
- Indistinct heart border
What is the management of respiratory distress syndrome in a neonate?
- Antenatal:
- Steroid therapy (delivery <34w)
- Tocolytic therapy
- Postnatal:
- O2 and ventilation
How can ventilation-associated pneumothoraces be prevented in neonates?
- Ventilated with the lowest pressures that provide adequate chest movement and blood gasses
What is the management of a pneumothorax in a neonate?
- Immediate decompression
- O2 therapy
- Chest drain if tension pneumothorax
What is Meconium Aspiration?
Respiratory distress in the newborn due to presence of meconium in trachea.
- Causes mechanical obstruction and/or chemical pneumonitis → pneumonia/infection
- Occurs exclusively in immediate neonatal period
What percentage of babies pass maconium before birth?
8-20%
What are the risk factors for meconium aspiration?
- GA >42 weeks - rare in pre-term
- Maternal history of HTN/PET/smoking/substance abuse
- Foetal distress/hypoxia
- Oligohydramnios
- Meconium stained amniotic fluid
- Chorioamnionitis
What are the signs and symptoms of meconium aspiration?
- Respiratory distress
- Increased RR
- Chest retraction
- Hypoxia
What are the appropriate investigations for suspected meconium aspiration?
- CXR (diagnostic)
- Overinflated lungs
- Patches of collapse and onsolidation
- Pneumothorax (from air leak)
- Pneumomediastinum (from air leak)
- Bloods
- FBC
- CRP
- Culture
What is the management of meconium aspiration?
- Obs
- Antibiotics → IV ampicillin and IV gentamicin
- O2 and NIV (i.e. CPAP) - in severe cases
What is Meconium Ileus?
Thick, sticky meconium that has a prolonged passing time
- Meconium usually passes within 24hrs of delivery → if it doesn’t there may be ileus
What are the signs and symptoms of meconium ileus?
- No passing of meconium stool in first 24hrs
- Vomiting of meconium instead of passing it as stool
What is meconium ileus associated with?
- Cystic fibrosis - 90%
- Biliary atresia
What is the management of meconium ileus?
- 1st line = Gastrograffin enema - N-acetylcysteine can be used
- 2nd line = Decompressive surgery
What are the causes of bilious vomiting in the neonate?
- NEC
- Duodenal atresia
- Jejunal/Ileal atresia
- Meconium ileus
- Malrotation volvulus
At what age does bilious vomiting present in NEC?
Prematurity
At what age does bilious vomiting present in duodenal atresia?
<6hrs after birth
At what age does bilious vomiting present in jejunal/ileal atresia?
<24hrs after birth
At what age does bilious vomiting present in meconium ileus?
24-48hrs after birth
At what age does bilious vomiting present in malrotation volvulus?
3-7 days after birth
What is the management of duodenal atresia?
Duodenoduodenostomy - anastomosis between two duodena to bypass an obstructed segment of the duodenum
What is the management of jejunal/ileal atresia?
Laparotomy