Paediatrics & Child Health: Neonatal and Perinatal Medicine

Presentations

• Birth trauma, such as clavicular fracture, brachial plexus palsy, subgaleal haemorrhage, and cephalhaematoma
• Collapsed neonate
• Cyanosis
• Floppy infant
• Growth restriction
• Hypoglycaemia
• Hypothermia
• Jaundice
• Maternal health affecting the neonate, such as thyroid disease, diabetes mellitus, and pre-eclamptic toxaemia (PET)
• Poor feeding
• Prematurity
• Preterm neonates
• Respiratory distress
• Seizures

Conditions

• Ambiguous genitalia and intersex disorders
• Antenatal conditions such as cerebral ventricular dilatation, choroid plexus cysts, congenital heart disease, dilated renal system, and neural tube defect
• Chromosomal and genetic conditions:
  
  • trisomy 13, 18, and 21
  • 22q11 deletion
• Congenital anomalies of the kidney and urinary tract
• Congenital brain abnormalities
• Congenital diaphragmatic hernia
• Congenital eye abnormalities
• Congenital heart disease
• Congenital malformations, such as cleft lip or palate, Pierre Robin sequence, sacral dimples, and finger anomalies
• Congenital skin disorders, such as ichthyosis and epidermolysis
• Developmental dysplasia of the hips
• Eye problems:
  
  • congenital cataracts
  • congenital glaucoma
  • nasolacrimal duct obstruction
  • retinoblastoma
  • retinopathy of prematurity
• Haematological conditions:
  
  • acute bleeding disorders, including vitamin K-deficient bleeding
  • anaemia
  • neutropenia
  • thrombocytopenia
• Intrauterine growth restriction or small for gestational age
• Neonatal abstinence syndrome
• Neonatal infection:
  
  • bacterial sepsis, including Gram-positive sepsis
  • central line-associated blood stream infections
  • congenital infections such as cytomegalovirus (CMV), HIV, hepatitis B and C, and parvovirus
  • congenital pneumonia
  • conjunctivitis
• Neonatal respiratory disorders:
  
  • air leak syndromes:
    
    • pneumomediastinum
    • pneumothorax
    • pulmonary interstitial emphysema
  • congenital lung abnormalities
  • meconium aspiration syndrome
  • respiratory distress syndrome
  • retained fetal lung fluid
• Neurological disorders
  
  • hypoxic ischaemic encephalopathy
  • intracranial and intraventricular haemorrhage
  • meningitis and encephalitis
  • peripheral nerve injuries, including brachial plexus, phrenic nerve, and facial nerve
  • periventricular leukomalacia
• Persistent pulmonary hypertension
• Plagiocephaly
• Preterm neonate complications:
  
  • anaemia
  • chronic neonatal lung disease
  • electrolyte disturbances
  • long-term neurodevelopmental disability
  • metabolic bone disease
  • necrotising enterocolitis and spontaneous intestinal perforation
  • nosocomial infection
  • patent ductus arteriosus
  • retinopathy of prematurity
• Skin abnormalities in the neonatal period, such as haemangioma and benign skin lesions
• Skin infections
• Surgical problems in the neonate:
  
  • abdominal wall defects 
    
    • gastroschisis
    • omphalocoele
  • atresia
    
    • anal
    • duodenal
    • oesophageal, with or without trachea-oesophageal fistula
    • small bowel
  • Hirschprung disease
  • hypospadias
  • inguinal hernia
  • intestinal malrotation, with or without volvulus
  • meconium ileus
  • undescended testes

For each presentation and condition, Basic Trainees will know how to:

Synthesise

• recognise the clinical presentation
• identify relevant epidemiology, pathophysiology, and clinical science
• take a relevant clinical history
• conduct an appropriate examination
• establish a differential diagnosis
• plan and arrange appropriate investigations
• consider the impact of illness and disease on patients¹ and their quality of life

Manage

• provide evidence-based management
  For less common or more complex presentations and conditions the trainee must also seek expert opinions
• prescribe therapies tailored to patients’ needs and conditions
• recognise potential complications of disease and its management, and initiate preventative strategies
• involve multidisciplinary teams

Consider other factors

• identify individual and social factors and the impact of these on diagnosis and management

Conditions

• Disseminated intravascular coagulation (DIC)
• Hereditary spherocytosis
• Lymphopenia
• Perinatal stroke

For each presentation and condition, Basic Trainees will know how to:

Synthesise

• recognise the clinical presentation
• identify relevant epidemiology, pathophysiology, and clinical science
• take a relevant clinical history
• conduct an appropriate examination
• establish a differential diagnosis
• plan and arrange appropriate investigations
• consider the impact of illness and disease on patients¹ and their quality of life

Manage

• provide evidence-based management
  For less common or more complex presentations and conditions the trainee must also seek expert opinions
• prescribe therapies tailored to patients’ needs and conditions
• recognise potential complications of disease and its management, and initiate preventative strategies
• involve multidisciplinary teams

Consider other factors

• identify individual and social factors and the impact of these on diagnosis and management

• Breastfeeding, principles associated with successful initiation, and maintenance
• Drug metabolism in the neonate and breastfeeding mother, and appropriate and safe prescribing
• Effects of intrauterine and perinatal events on outcome
• Fluid management
• Infant–maternal attachment
• Infection prevention and control in neonates
• Neonatal resuscitation and mechanical ventilation
• Physiology of extra-uterine adaptation, including initiation of feeding, and changes to cardiac and respiratory physiology
• Therapeutic hypothermia

Investigations

• Basic neonatal imaging, such as X-ray of the chest and abdomen, and cranial ultrasound
• Blood gas analysis
• Postnatal scanning for antenatal-detected conditions
• Serum:
  
  • bilirubin
  • blood glucose measurements

Procedures

• Catheterisation:
  
  • intravenous
  • umbilical vascular
  • urethral
• Lumbar puncture
• Neonatal resuscitation, including intubation
• Pleural aspiration and drainage
• Suprapubic aspirate

• Breastfeeding problems and recognition of when to refer to additional services, such as lactation consultant
• Feeding problems
• Gestational age assessment based on physical examination
• Infant nutrition
• Infant maternal attachment
• Neonatal screening:
  
  • Guthrie test / newborn screening program:
    
    • cystic fibrosis
    • inborn errors of metabolism (IEMs)
    • MCAD deficiency
    • thyroid function
  • hearing assessment
  • hip assessment and screening ultrasound
• Post-natal depression
• Principles behind immunisation and vitamin K at birth
• Problems of addiction and their impact on the fetus and the neonate
• Transport and retrieval indications and issues