Neonates Flashcards
features of congenital CMV
- sensorineural deafness
- jaundice
- IUGR symmetrical
- blueberry muffin rash
- congenital cataracts
investigations for congenital CMV
- PCR urine or saliva
- cranial USS - periventricular calcification (hyperdense specks on CT)
features of congenital toxoplasmosis
- chorioretinitis
- intracranial calcifications
- hydrocephalus
features of congenital rubella
- cardiac - PDA, cardiomegaly
- cataracts
3.deafness
features of congenital parvovirus
- anaemia
- hydrops fetalis
- miscarriage
causes of haemolytic disease of the newborn
- ABO incomptability ** (IgM)- if Mum O and baby A/B.
- rhesus D (IgG) - rhesus -ve mum and rhesus +ve baby. anti D to rhesus -ve mum at 28/40.
- kell system
- duffy antigens
management of haemolytic disease of newborn
- FBC - ? anaemia ?raised reticulocyte count
- DCT
- bilirubin
- start phototherapy +/- exchange transfusion
9 conditions tested for in newborn screening
- sickle cell anaemia -
- cystic fibrosis - raised IRT
- hypothyroidism - raised TSH
- MCADD - raised otctanolcarnitine
- phenylketonuria - raised phenylalanine
- maple syrup urine disease - raised leucine
- isovalaeric acidaemia
- homocystinuria
- glutaric aciduria type 1
causes of neonatal hypotonia
- CENTRAL
- genetics e.g. trisomy 21, prader willi, zellweger syndrome
- cerebral malformations
- HIE ** - PERIPHERAL
- anterior horn cell - spinal muscular atrophy
- neuromuscular junction - congenital myasthenia
- muscles - congenital myotonic dystrophy - OTHER
- sepsis
- hypoglycaemia
- hypotonia
risk factors for HIE
- reduced gas exchange across placenta e.g. placenta abruption
- interupption of umbilical blood flow e.g. cord prolapse, shoulder dystocia
- inadequate maternal placenta perfusion e.g. hypertension
- compromised fetus e.g. anaemia, IUGR
- failure to breathe at birth
presentation of HIE
mild - irritable, hyperventilation, hypertonia, poor feeding
moderate - hypotonic, seizures, difficult feeding
severe - prolonged seizures, organ failure
cooling criteria in HIE
SECTION A
- APGARS <5 at 10 minutes
- resus >10 minutes from birth
- acidosis <7.0 or BE >16 within 60 minutes
SECTION B
- hypotonia
- altered state of consciousness
- abnormal primitive reflex
- seizures
management fo suspected HIE (meets section A and B of cooling criteria)
- cooling to rectal temperature of 33-34 degrees for 72 hours if >36/40 gestation within 6 hours of birth
- cerebral functioning monitoring
- anti convulsants
- MRI at 5-14 days
cause of spinal muscular dystrophy
deletion / mutation on SMN1 gene on chromosome 5
causes degeneration of alpha motor nueornes in anterior horn cell of spinal cord
inheritance of spinal muscular atrophy
autosomal recessive
presentation of type 1 ‘werdnig hofman’ spinal muscular atrophy
- hypotonia - progressive , severe, present at few months old
- tongue fasciculations
- absent deep tendon reflexes
- paralysis of intercostal muscles
cause of congenital myotonic dystrophy
trinucleotie expansion of CTG in the DMPK gene on chromosome 19
inheritance of congenital myotonic dystrophy
autosomal dominant
presentation of congenital myotonic dystrophy
- profound hypotonia at birth
- face expressionless
- dysmorphic face - v shaped upper lips, thin cheeks, low set ears, high arched palate
- club foot, contractures
- respiratory difficulties
duodenal atresia associations
trisomy 21
cystic fibrosis
TOF
congenital heart disease
diaphragmatic hernia
presentation of duodenal atresia
- antenatal- polyhydramnios, double bubble sign
- bilious vomiting **
abdo XR in duodenal atresia
double bubble sign
management of duodenal atresia
- NG on free drainage
- NBM
- IV fluids
- surgical primary repair by open laparotomy
cause of hirschsprungs disease
- absence of ganglion cells in distal part of colon in submucosa and myenteric plexus
- causes of functional obstruction and accumulation of stool
presentation of hirschsprungs disease
failure to pass meconium in first 24 hours of life.
abdo distension
vomiting
poor feeding
management of suspected hirschsprungs disease
- contrast enema - reveals transition zone
- rectal suction biopsy - confirms aganglionic cells
- surgery
- +/- antibiotics for enterocolitis
investigation for suspected meckels divericulum
technetium 99m scan
risk factors for necrotising enterocolitis
maternal
- placental insufficiency
- abruption
- PROM
- perinatal hypoxia
neonatal
-prematurity **
- low birth weight <1kg
- IUGR
- artificial feeds
- hypoxia/ shock/ hypothermia
where does NEC affect in gut
- terminal ileum
- caecum
- ascending colon
signs of NEC
- initial - feed intolerance, increased gastric residuals
- temp instability, lethargy, apnoea
- abdo distension, vomiting, discolouration of abdo wall
- shock, sepsis
management of NEC
- Bloods - FBC, coag, culture, gas
- abdo x ray
- NBM
- NG free drainage
- TPN
- IV fluids
- IV antibiotics
- +/- surgery
signs of NEC on x ray
- dilated bowel loops
- pneumatosis intestinalis - intramural gas
- bowel wall oedema
- pneumoperitoneum
- portal venous gas
cause of malrotation
fails to rotate 270 clockwise around superior mesenteric artery at 8 weeks gestation
presentation of malrotation
- bilious vomiting
- abdo distension
- peritonitis
- fresh red blood from rectum
management of suspected malrotation
- upper gI contrast study - failure to pass contrast into upper part, ‘corkscrew ‘ sign
- NG free drainage
- NBM
- IV fluids
- laparotomy and resect bowel
features of VACTERL
V - vertebra anolamies
A - anorectal malformations
C - cardiac defects
T - tracheo-oEsophageal atresia
E -
R - renal anomalies
L - limb anomalies
features of CHARGE syndrome
C - coloboma
H - heart defects
A - atresia choanal
R - retardation of growth
G - genital defects
E - ear abnormalities
presentation of choanal atresia
cyanotic at rest and relieved by crying
unable to pass NG through nasal opening
TOF-OA associations
- VACTERL
- CHARGE
- duodenal atresia
- trisomy 13, 18 and 21
- diaphragmatic hernia
most common TOF abnormality
type C - oesophageal atresia with distal fistula in trachea
antenatal signs of TOF-OA
polyhydramnios
absence of fetal bubble on USS
presentation of tOF-OA
- excessive saliva
- early resp distress
- choking on feeds
- inability to pass NG
management of suspected tOF-OA
- CXR - NG coiled up in oesophagus . if air present in stomach, distal fistula present
- replogle tube
- surgery to correct defect
complications with TOF-OA surgical repair
- anastomatic leak
- GORD
- recurrent infections
- oesophageal dysmotility
associations with exomphalos
- beckwith wiedeman
- trisomy 13, 18 , 21
- cardiac anomalies
associations with gastroschisis
- low maternal age
- smoking
- drug misuse
difference between exomphalos and gastroschisis
exomphalos - central umbilical defect and herniation of stomach contents into umbilical sac (membrane)
gastroschisis - defect in rectus muscle (usually on R) leading to herniation of abdominal contents (no membrane)
types of CDH
- bochdalek hernia ** - L sided, 85%
- morgani - R sided, anterior
presentation of CDH
- antenatal - polyhydramnios
- resp distress ** - due to pulmonary hypoplasia
- displacement of heart sounds
- scaphoid abdomen
management of CDH
- CXR
- ECHO
- intubate and ventilate ASAP and minimise bag/ mask
- high frequency ventilation (at risk of pulmonary HTN - may need nitrous oxide)
-IVF - surgery
cause of neonatal alloimmune thrombocytopenia
- low platelets caused by maternal IgG antibodies against fetal platelets
- most common = anti HPA 1a
presentation of neonatal alloimmune thrombocytopenia
- petechiae , bruising
- mucosal bleeding first few days
management of neonatal alloimmune thrombocytopenia
- plt count
- cranial USS - risk fo iVH
- neonatal plt transfusion
can give IVIG antenetally or steroids
risk factors for haemorrhagic disease of newborn
- anti epileptics
- rifampicin
- warfarin
- breast milk
- refusal of vit K at birth
tests for VIT k DEFICIENCY
- prolonged PT and APTT
- normal fibrinogen
management of haemorrhagic disease of newborn if no vit K at birth
- IV vitamin K
- fresh frozen plasma
causes of early onset (<72 hours old) sepsis
- group B strep ** - gram +ve cocci
- E.coli - preterm
- listeria - mec liquor, resp distress and rash
- h.influenza
risk factors for neonatal sepsis
- chorioamniotis
- maternal GBS
- intrapartum fever
- preterm delivery <37/40
- PROM >18 hours preterm/ >24 hours term
- signs of resp distress
- jaundice in first 24 hours of life
red flag signs for neonatal sepsis
- apnoea
- seizures
- CPR
- need ventilation
- signs of shock
- twin to twin infection
management of early onset sepsis
benzylpenicillin and gentamicin
amoxicillin if suspect listeria
2nd line= vancomycin + gent
causes of jaundice <24 hours old
- ABO incompatability/ rhesus disease
- sepsis
- G6PD deficiency
- haemolytic (sickle cell, thalassaemia)
- congenital infection (conjugated)
causes of jaundice 2 days - 2 weeks old
UNCONJUGATED
- physiological
- breast milk jaundice
- sepsis/ UTI
- hypothyroid
- dehydration - >10% weight loss
- crigler najjar syndrome
cause of crigler najjar syndrome
deficiency of gluconyl transferase
very high unconjugated bilirubin
unconjugated causes of jaundice >2 weeks old
MOST COMMON
- haemolytic disease e.g. sickle cell, thalassaemia
- hypothyroidism
- infection
- cystic fibrosis
- metabolic e.g. galactossaemia
- TPN jaundice
conjugated causes of neonatal jaundice
- biliary atresia **
- viral hepatitis e.g. EBV, hep A, B
- neonatal hepatitis
- alagille syndrome
- alpha 1 anti trypsin syndrome
signs of kernicterus encephalopathy
- cerebral palsy
- hearing loss
- upward gaze
- learning disability
- dental dysplasia
investigations for jaundice
- unconjugated and conjugated bilirubin
- FBC
- blood group and DCT
- urine
- TFTs
- viral screen
- coag
side effects of exchange transfusion
- hyperkalaemia
- hypo/ hyperglycaemia
- catheter related e.g. embolus, acidosis, hypocalcaemia
signs of fetal alcohol syndrome
- facial - thin vermillon border, smooth philtrum, short palpebral fissures
- irritable
- ADHD, learning disabilities
- symmetrical IUGR
features of carbimazole in pregnancy
choanal atresia
scalp defects
features of lithium use in pregnancy
ebsteins anomaly - systolic murmur and ejection clicks
features of phenytoin use in pregnancy
microcephaly
cleft lip
developmental delay
cause of sudden desaturation in babies on ventilators
D - displacement of tube
O - obstruction e.g. secretions, meconium aspiration, infection
P - pneumothorax - beaking on monitor
E- equipment failure
CO2 clearance on ventilator determined by…
- minute ventilation -> affected by tidal volume (which affects PIP)
- respiratory rate -> increased rate, increases CO2 clearance
O2 determined by
mean airway pressure (PEEP)
causes of neontal seizures
CNS
- HIE ***
- Intracranial haemorrhage
- hydrocephalus
BIOCHEMICAL
- hyponatraemia
- hypocalcaemia
- hypo magnesium
- hypoglycaemia
METABOLIC
- non ketotic hyperglycinaemia
- maple syrup urine
- urea cycle defects
OTHER
- drug withdrawal
- benign familial neonatal seizures
- benign sleep myoclonus
management of neonatal seziures
1st line - phenobarbital
SE= apnoea
risk factors for pulmonary HTN of newborn
- maternal diabetes
- meconium
- perinatal asphyxia
- surfactant deficiency
- congenital heart disease (L -> r SHUNT)
investigations for persistent pulmonary HTN
- pre and post ductal sats - >10% difference
- blood gas - low PaO2 despite oxygen
- ECHO - elevated pulmonary artery systolic pressure, r -> L shunt
management of persistent pulmonary hypertension
- volume expansion
- inotropes e.g. noradrenaline milirone, dobutamine
- oxygen
- nitric oxide 1-20 ppm
- assisted ventilation - increase PEEP and reduce PIP
management of hypoglycaemia in prematurity
- iV 10% glucose 2.5ml/kg
- 10% glucose maintenance fluids
risk factors for ROP
- oxygen
- <31/40
- BW < 1.5kg
management fo ROP
- anti VEGF
- laser therapy
screen 4-5 weeks post natal age and every other week
presentation of PDA
- apnoea
- resp distress
- heart failure
- reduced oxygen sats
metabolic bone disease in prematurity
- phosphate deficiency causes reduced bone mineralisation
widening and cupping of wrists and knees
brain injury in prematurity
- peri intraventricular haemorrhage first 72 hours of life
- periventricular white matter - ischaemic white matter
- ventricular dilatation
respiratory problems in prematurity
- respiratory distress syndrome
- bronchopulmonary dysplasia
- pulmonary haemorrhage
- apnoea
- pneumothorax
cause of RDS in prematurity
- insufficient type 2 pneumocytes so reduce surfactant production
(surfactant reduces surface tension to maintain alveolar pressure) - increase surface tension and alveoli collapse
management of RDS
- surfactant via ET within 30-60 mins of life
- CPAP - maintains end expiratory pressure
cause of chronic lung disease / bronchopulmonary disease
oxygen toxicity causes lung injury and arrested alveolisation leading to pulmonary hypertension
risk factors for developmental dysplasia of hip
- breech presentation
-girls - 1st degree FH
- multiple pregnancies
- oligohydramnios
- fixed foot defromity
presentation of DDH
- barlows - dislocating hip
- ortolani - hip joint reducibility
- leg length discrepancy
- limitation of abduction
- waddling gait
investigations for DDH RF
< 4 months old: hip USS in 4-6 weeks
> 4 months: hip XR
management of DDH
- pavlik harness splinting for 6 weeks and then wean for 6 weeks.
- if late diagnosis, surgical reduction
complications of pavlik harness
- avacsular necrosis of femoral head
- accessory nerve palsy
- irreducible hip dislocation
cause of neonatal SLE
maternal transfer of anti Ro and anti La
presentation of neonatal SLE
- heart block
- skin lesions
- thrombocytopenia
