12.09.04 Neonatal unit

VACTERL / VATER Syndrome

• • Features

    • V - Vertebral anomalies

    • A - Anal atresia

    • C - Cardiovascular anomalies

    • TE - Tracheoesophageal fistula

    • R - Renal and/or radial anomalies

    • L - Limb defects

  • Incidence

    • 16 cases per 100,000 live births

    • Seen more frequently in infants born to diabetic mothers

  • Aetiology

    • Cause and association unknown

CCHS

• • Congenital Central Hypoventilation Syndrome AKA Ondine's curse

  • Aetiology

    • Congenital

    • or Developed due to severe neurological trauma to the brainstem

  • Prevalence: 1/200,000 live births

  • Pathophysiology

    • Inborn failure of autonomic control of breathing

    • Causes apnoea when sleeping

    • Children develop life-threatening episodes of apnea with cyanosis, usually in the first months of life

  • Management

    • Most people with Ondine's curse do not survive infancy, unless they receive ventilatory assistance during sleep

    • An alternative to a mechanical ventilator is Phrenic Nerve Pacing/diaphragm pacing

  • Associations

    • Neuroblastoma

    • Hirschsprung disease

    • Dysphagia

    • Anomalies of the pupilla

Neonatal Baby Check

• • Listen and observe

    • Assess overall appearance

      • Note general tone, sleepiness and rousability

      • Observe general condition, proportions and maturity

    • Look carefully

      • Evidence of jaundice (preferably in bright, natural light)

      • Are there any birthmarks, rashes or other skin abnormalities?

    • Listen

      • To the baby's cry and note its sound

    • Weigh

      • The baby and plot this reading on its growth chart

  • Head

    • Shape, presence of fontanelle and whether normal, sunken or bulging

    • Measure and record head circumference on growth chart

    • Assess facial appearance and eye position

    • Look for any asymmetry or abnormality of facial form

  • Eyes

    • Normal shape and appearance?

    • Check for presence of red reflex

    • Look for obvious cataracts or signs of ophthalmic infection

  • Ears

    • Shape and size

    • Are they set at the normal level or 'low set'?

    • Check patency of external auditory meatus

  • Mouth

    • Colour of mucous membrane, observe the palate

    • Check suckling reflex by inserting a clean little finger gently inside baby's mouth

  • Arms and hands

    • Are they of normal shape and moving normally?

    • Look for evidence of traction birth injury (eg Erb's palsy) by checking neck, shoulders and clavicles

    • Count fingers and observe their shape – is there any evidence of clinodactyly (incurving of fingers)?

    • Check palmar creases – are they multiple or single?

      • A single palmar crease may be normal, but can be a sign of Down's syndrome

  • Peripheral pulses

    • Check brachial, radial and femoral pulses for rate, rhythm and volume

    • A hyperdynamic pulse may suggest persistent ductus arteriosus

    • A weak pulse may occur with a congenital cardiac anomaly (impairing cardiac output and in conjunction with other signs from the examination)

    • Check for radio-femoral delay (aortic coarctation)

  • Heart

    • Check cardiac position by palpation and feel for any thrill or heave

    • Listen to the heart sounds carefully and for any added sounds or murmurs

  • Lungs

    • Watch respiratory pattern, rate and depth for a few seconds

    • Look for any evidence of intercostal recession

    • Listen for stridor

    • Auscultate lung fields for for added sounds

  • Abdomen

    • Look at abdominal girth and shape

    • Carefully check the umbilical stump for infection or surrounding hernia

    • Palpate gently for organs, masses or herniae

    • It is common to be able to feel the liver and/or spleen in healthy newborns

    • Check the external genitalia carefully (see Ambiguous Genitalia)

    • Palpate for testicles in boys

    • Inspect the anus (has meconium been passed?)

  • Back

    • Look carefully at skin over back and at spinal curvature/symmetry

    • Is there any evidence of spina bifida occulta or pilonidal sinus hidden by flesh creases or dimples?

    • Palpate the spine gently

  • Hips

    • Specifically test for congenital dislocation of the hip (a.k.a. congenital hip dysplasia) using combination of Barlow and Ortolani manoeuvres

  • Legs

    • Watch movements at each joint

    • Check for any evidence of talipes equinovarus

    • Count toes and check shape

  • CNS

    • Observe tone, behaviour, movements and posture

    • Elicit newborn reflexes only if there is cause for concern

Notes

• • 3541 / 5341 / 1245

  • Sijo Francis / Matt

  • Congenital heart abnormalities massively run in families

  • Congenital talipes equinovarus (CTEV)

    • Fixed or positional

  • Imperforate anus

    • Low can (sometimes) be fixed directly

    • High often form fistulae to the GUT and require a 3-stage operation to fix

  • Hip tests

    • Ortolani: Is is already out?

    • Barlow: Can I make it come out?