Neonatology Flashcards
Overview
-Jaundice
-Prematurity
-Bilious vomiting
-Feeding problems
-Low blood sugar
-Common genetic disorders (Downs’, Fragile X, CF)
-Failure to thrive
-Hypospadias
General issues of neonates
-Increased requirement for support at delivery
-Poor temp regulation
-Poor barrier defence thin skin)
-Increased water losses
-Poor respiratory drive (apnoea and brady)
Warm, sweet, pink
Describe the Apgar score
The Apgar score is used to assess the health of a newborn baby. NICE recommend that it is assessed at 1, and 5 minutes of age. If the score is low then it is again repeated at 10 minutes.
Pulse, Respiratory effort, colour, muscle tone, reflex irritability
A score of 0-3 is very low score, between 4-6 is moderate low and between 7 - 10 means the baby is in a good state
Neonatal blood spot screening
Neonatal blood spot screening (previously called the Guthrie test or ‘heel-prick test’) is performed at 5-9 days of life
The following conditions are currently screened for:
congenital hypothyroidism
cystic fibrosis
sickle cell disease
phenylketonuria
medium chain acyl-CoA dehydrogenase deficiency (MCADD)
maple syrup urine disease (MSUD)
isovaleric acidaemia (IVA)
glutaric aciduria type 1 (GA1)
homocystinuria (pyridoxine unresponsive) (HCU)
Red flags in history for neonatal jaundice
-Timing of jaundice (sudden/gradual)
-Precipitating factors (e.g. drugs, recent infections)
-Progression (e.g. persistent/intermittent)
-Stool/urine colour: babies in first 3 months of life cannot concentrate urine, putty coloured stools are acholic (no bilirubin or pigmented metabolites)
-Any bleeding, bruising
-Unwell or not
-Family history (e.g. liver disease)
Red flags in exam for neonatal jaundice
-Growth; dysmorphic features (metabolic)
-Unwell or not
-Hepatosplenomegaly, ascites; spider naevi, venous shunting(chronicity)
-Bleeding or bruising
-Check urine and stool colour
-Not just unwell! - Could this be a life-threatening situation?
Causes of neonatal jaundice in first 24 hours
-Jaundice in first 24 hours ALWAYS pathological
=Rhesus haemolytic disease
=ABO haemolytic disease
=Hereditary spherocytosis
=Glucose-6-phosphodehydrogenase
Causes of jaundice in the neonate from 2-14 days
Jaundice in the neonate from 2-14 days is common (up to 40%) and usually physiological. It is due to a combination of factors, including more red blood cells, more fragile red blood cells and less developed liver function.
Break down feto haemoglobin release unconjugated bilirubin (conjugated in liver)
It is more commonly seen in breastfed babies
Causes of jaundice after 14 days (prolonged)
-Biliary atresia
-Hypothyroidism
-Galactosaemia
-UTI
-Breast milk jaundice
=jaundice is more common in breastfed babies
=mechanism is not fully understood but thought to be due to high concentrations of beta-glucuronidase → increase in intestinal absorption of unconjugated bilirubin
-Prematurity
=due to immature liver function
=increased risk of kernicterus
-Congenital infections e.g. CMV, toxoplasmosis
Overview of biliary atresia
What is in a prolonged jaundice screen?
-Conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
-Direct antiglobulin test (Coombs’ test)
-TFTs
-FBC and blood film
-Urine for MC&S and reducing sugars
-U&Es and LFTs
UV light to treat
Unconjugated bilirubin passes BBB and causes brain damage
Inherited causes of jaundice
Conjugated hyperbilirubinemia
-Dubin-Johnson syndrome
=Autosomal recessive, defective hepatic excretion of bilirubin, grossly black liver, benign
-Rotor syndrome
=Autosomal recessive defect in hepatic uptake and storage of bilirubin, benign
Unconjugated
-Gilbert’s syndrome
=Autosomal recessive, mild deficiency of UDP-glucuronyl transferase, benign
-Crigler-Najjar syndrome
=Autosomal recessive, absolute deficiency, do not survive to adulthood (type 1), type 2 less severe, more common and may improve with phenobarbital
What are the likely causes of death in acute or chronic liver disease?
-Bleeding – coagulopathy
-Infection
-Encephalopathy (sleepy, unarousable, irritable)
Risks of prematurity
-Increased mortality depends on the gestation
-Respiratory distress syndrome
-Intraventricular haemorrhage
-Necrotizing enterocolitis
-Chronic lung disease, hypothermia, feeding problems, infection, jaundice
-Retinopathy of prematurity
=Important cause of visual impairment in babies born before 32 weeks gestation
=The cause is not fully understood and multivariate. One of the contributing factors is thought to be over oxygenation (e.g. during ventilation) resulting in a proliferation of retinal blood vessels (neovascularization)
=Screening is done in at-risk groups
-Hearing problems
Preterm resp disease
-Surfactant-deficient lung disease (RDS)
-Air leaks (leads to tension pneumothorax)
-Infection
-Haemorrhage
-Bronchopulmonary dysplasia (BPD/CLD)