1- Community (Screening) Flashcards
(39 cards)
1
Q
healthy child programme: newborn screening timeline
A
2
Q
types of screening in the healthy child programme
A
- newborn physical examination
- newborn Blood splot
- newborn hearing screen
- infant physical examination
3
Q
when is the newborn physical examination done
A
by 72 hours
4
Q
when is the newborn blood spot done
A
day 5
5
Q
when is the newborn blood spot done
A
day 5
6
Q
when is the newborn hearing screen done
A
from 0 to 5 weeks
7
Q
when is the infant examination done
A
6-8 weeks
8
Q
why do newborn infant screening
A
- 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
9
Q
who do the newborn examination
A
- Community team
- Or inpatient team
10
Q
aim of newborn and infant physical examination
A
- Screen for congenital abnormalities.
- Refer where appropriate.
- Reassure parents.
11
Q
what is examined in the newborn physical examination
A
- Eyes
- Heart
- Hips
- Testes
12
Q
examination of eyes: risk factors for problems
A
- Family history of congenital or hereditary cataracts (1st degree).
- Maternal exposure to viruses (rubella, CMV) in pregnancy.
- Prematurity.
- Trisomy 21.
13
Q
examination of eyes: newborn examination
A
- Ability to fully open eyelids.
- Both eyes same size.
- Roundness and symmetry of pupils.
Presence of red reflex.
* Absence - ? Cataracts
* White - ? Retinoblastoma
14
Q
examination of eyes: 6-8 week examination
A
- 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)
15
Q
examination of the heart: risk factors for problems
A
- 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.
16
Q
examination of the heart: observation
A
- 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.
17
Q
examination of the heart: palpation
A
- 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).
18
Q
examination of the heart: auscultation and murmurs
A
- 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)
19
Q
examination of the heart: signs which suggest major congenital heart anomaly
A
- 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.
20
Q
examination of the hips: risk factors for problems
A
- Family history of hip problems (1st degree).
- Breech presentation at or after 36 weeks gestation.
21
Q
examination of the hips: examination
A
- 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.
22
Q
examination of the hips: manipulation
A
Palpable ‘clunk’ when undertaking Barlow and Ortolani manouvres.
23
Q
examiantion of the testes: risk factors for problems
A
- Family history of cryptorchidism (1st degree).
- Low birth weight.
- Small for gestational age or preterm delivery.
24
Q
examiantion of the testes: examination
A
- Observe scrotum for symmetry, size and colour.
- Palpate scrotal sac to locate testes; if none check inguinal canal.
25
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.
26
why is heelprick testing done on days 5-8
before this too much of the mothers blood)
27
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
28
heelprick screening important principles
- Doesn’t mean child definitely has disease
- Emphasise early treatment is the goal
29
inborn errors of emtabolism screened for in heelprick
- Start treatment for PKU and MCADD within 21 days
30
heelprick procedure
- dont use vaseline
- take from lateral side
31
congenital hypothyroidism: background
* One of most common preventable causes of intellectual impairment.
* Inverse relationship between age of treatment initiation and IQ.
32
aetiology behind congenital hypothyroidism
**Primary**- defect in thyroid
- Thyroid dysgenesis (absent, hypoplastic or ectopic)
- Dyshormonogenesis
**Secondary**- hypothalamic-pituitary dysfunction
33
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
34
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.
35
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.
36
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
37
presentation of CF
38
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**
39
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
