1- Community (Screening) Flashcards
healthy child programme: newborn screening timeline
types of screening in the healthy child programme
- newborn physical examination
- newborn Blood splot
- newborn hearing screen
- infant physical examination
when is the newborn physical examination done
by 72 hours
when is the newborn blood spot done
day 5
when is the newborn blood spot done
day 5
when is the newborn hearing screen done
from 0 to 5 weeks
when is the infant examination done
6-8 weeks
why do newborn infant screening
- To identify babies with rare, but serious conditions
- Aims to achieve early detection, treatment and referral of babies thought to be affected by these conditions
who do the newborn examination
- Community team
- Or inpatient team
aim of newborn and infant physical examination
- Screen for congenital abnormalities.
- Refer where appropriate.
- Reassure parents.
what is examined in the newborn physical examination
- Eyes
- Heart
- Hips
- Testes
examination of eyes: risk factors for problems
- Family history of congenital or hereditary cataracts (1st degree).
- Maternal exposure to viruses (rubella, CMV) in pregnancy.
- Prematurity.
- Trisomy 21.
examination of eyes: newborn examination
- Ability to fully open eyelids.
- Both eyes same size.
- Roundness and symmetry of pupils.
Presence of red reflex.
* Absence - ? Cataracts
* White - ? Retinoblastoma
examination of eyes: 6-8 week examination
- Smiles as visual response.
- Ability to fix steadily (without nystagmus)
- Ability to fix and follow. (large bright object)
- Alignment of eyes.
(can be variable, consistent abnormal)
examination of the heart: risk factors for problems
- Family history of congenital heart disease (1st degree).
- Cardiac anomaly suspected from antenatal scan.
- Trisomies.
- Maternal exposure to viruses e.g. rubella in first trimester.
- Maternal conditions e.g. Type 1 diabetes, epilepsy, SLE.
- Teratogenic drugs during pregnancy e.g. anti-epileptics.
- Maternal drug or alcohol abuse.
examination of the heart: observation
- General tone.
- Central and peripheral colour.
- Chest inspection: size and shape; symmetry of movement.
- Use of diaphragm and abdominal muscles.
- Signs of respiratory distress: respiratory rate, recession/grunting.
examination of the heart: palpation
- Assess perfusion through capillary refill time.
- Femoral and brachial pulses for strength, rhythm and volume.
- Position of cardiac apex (dextrocardia); any abnormalities (thrill).
- Abdomen to assess liver size (enlarged in congestive heart failure).
examination of the heart: auscultation and murmurs
- Significant murmur
o usually loud.
o heard over a wide area.
o harsh rather than soft quality.
o associated with other abnormal findings. - Benign murmur
o Sensitive (changes with child’s position)
o Short duration (not holosystolic)
o Single (no associated clicks or gallops)
o Small (murmur limited to a small area and non-radiating)
o Soft (low amplitude)
o Sweet (not harsh sounding)
o Systolic (occurs during and is limited to systole)
examination of the heart: signs which suggest major congenital heart anomaly
- Tachypnoea at rest (normal newborn RR 40-60 breaths/min).
- Apnoea lasting >20 seconds or associated colour change.
- Recession and nasal flaring.
- Central cyanosis.
- Visible pulsation over precordium, heaves, thrills.
- Absent or weak femoral pulses.
- Presence of cardiac murmur or extra heart sounds.
side note
* Many babies will have a murmur at birth without a heart defect.
* BUT, murmurs can be absent with a significant heart defect.
examination of the hips: risk factors for problems
- Family history of hip problems (1st degree).
- Breech presentation at or after 36 weeks gestation.
examination of the hips: examination
- Differences in leg length.
- Knees at different levels when hips and knees are bilaterally flexed.
- Buttock/posterior thigh skin folds asymmetry on ventral suspension.
- Difficulty in adducting the hip to 90 degrees.
examination of the hips: manipulation
Palpable ‘clunk’ when undertaking Barlow and Ortolani manouvres.
examiantion of the testes: risk factors for problems
- Family history of cryptorchidism (1st degree).
- Low birth weight.
- Small for gestational age or preterm delivery.
examiantion of the testes: examination
- Observe scrotum for symmetry, size and colour.
- Palpate scrotal sac to locate testes; if none check inguinal canal.
Associations of cryptorchidism:
- Significant increase in the risk of testicular cancer.
- Reduced fertility when compared to normally descended testes.
- Associated other urogenital problems: hypospadias, testicular torsion.
why is heelprick testing done on days 5-8
before this too much of the mothers blood)
heelprick screening background
10 illnesses
- Congenital hypothyroidism
- Cystic Fibrosis
- Phenylketonuria (PKU)
- Medium chain acyl XCoA Dehydrogenase deficiency
- Maple syrup urine disease
- Isovaleric acidaemia
- Sickle cell disease
- Glutaric aciduria Type 1
- Homocystinuria
- Severe combined immune deficiency (SCID)- newly added
heelprick screening important principles
- Doesn’t mean child definitely has disease
- Emphasise early treatment is the goal
inborn errors of emtabolism screened for in heelprick
- Start treatment for PKU and MCADD within 21 days
heelprick procedure
- dont use vaseline
- take from lateral side
congenital hypothyroidism: background
- One of most common preventable causes of intellectual impairment.
- Inverse relationship between age of treatment initiation and IQ.
aetiology behind congenital hypothyroidism
Primary- defect in thyroid
- Thyroid dysgenesis (absent, hypoplastic or ectopic)
- Dyshormonogenesis
Secondary- hypothalamic-pituitary dysfunction
congenital hypothyroidism presentation
Few or no clinical manifestations of hypothyroidism
* Due to maternal thyroxine which crosses the placenta
* Many infants have some, although inadequate functioning thyroid tissue
Manifestations at birth
* Birth length and weight within normal range
* Weight often at relatively higher centile due to myxoedema
* Delayed calcification in epiphyses
CF background
- Most common life-shortening autosomal recessive condition.
- Occurs more commonly in Caucasians (1 in 2500) but increasingly recognised in South and East Asia, Africa and Latin America.
- Median predicted survival is 39 years.
screening test for CF
Immunoreactive tryspin (IRT)
- Trypsinogen normally produced in pancreas and carried to small intestine where it changes from inactive ‘proenzyme’ to active ‘enzyme’ trypsin.
- Blocked pancreatic ducts in CF impede passage of trypsinogen into gut and result in build up in the blood. Can be detected and measured as IRT levels increase.
- Best screening test for CF, but several other causes for raised IRT.
if IRT screen positive
Sweat test and genotyping
Sweat test
- Sweat chloride elevated in CF (60-125 mmol/L); normal value 20-60 mmol/L.
- Sweating stimulated by pilocarpine iontophoresis.
- Requires adequate volume of sweat (>100 mg)
Genotyping
- CF transmembrane conductance regulator (CFTR) gene
presentation of CF
newborn hearing screen
4-5 weeks
- automated otacoustic emissions testing
- if baby fails this then you repeat the test
- if they fail again -> auditory brainstem response
automated otoacoustic emissions (AOAE)
A small soft-tipped earpiece is placed in your baby’s ear and gentle clicking sounds are played. It’s not always possible to get clear responses from the 1st test.
- detects normal sound vibrations from outer hair cells in the cochlea
