Professional Documents
Culture Documents
Department of Paediatrics
Faculty of Medicine
University of Malaya
Learning Objectives
Concepts of screening
Criteria for a screening test
Newborn screening
Benefits of newborn screening
Expanded newborn screening
Introduction
Population screening is the testing of individuals in the
community to identify those who are at risk for a specific
condition or in the presymptomatic phase of disorders.
Screening in paediatrics also includes screening for
chromosomal disorders (trisomy syndromes in
pregnancy), mendelian disorders (thalassaemia,
hypercholesterolaemia) and multifactorial disorders
(neural tube defects, deafness).
Introduction
1970’s
T4 assay for congenital hypothyroidism
Later, TSH as primary assay
1 1
Head shape, size, scalp, fontanelle,
sutures.
Enlarged, bulging, sunken, absent
fontanelle. 4 2 2 4
Fused sutures Sagittal Suture
Subgaleal haemorrhage, caput
succadaneum, cephalohaematoma, Squamosal
Suture
chignon. 3
Hazy cornea, absent red eye reflex.
Lambdoid Suture
Non-patent nares, absent ear canal,
1 - Frontal Bone
microtia, pre-auricular pit. 2 - Parietal Bones
Neck masses, swelling 3 - Occipital Bones
Fractured clavicle. 4 - Temporal Bones
Differentiating Caput vs Cephalhaematoma
vs Subaponeurotic(Subgaleal) Haemorrhage
Rooting Reflex
Onset: 28 weeks GA
Well-established: 32-34 weeks GA
Disappears around 4 months.
Elicited by the examiner stroking the cheek or corner of the
infant’s mouth. The infant’s head turns toward the stimulus
and opens its mouth
Pulse Oximetry Screening
Non-invasive Placement of saturation probe on infant’s
lower limbs (post-ductal) or both right upper limb (pre-
ductal) and lower limb.
To detect hypoxaemia clinical sign of critical
congenital heart disease.
Other conditions that may also be detected via routine
pulse oximetry :
Neonatal sepsis with circulatory dysfuction
Persistent pulmonary hypertension of the newborn
Congenital pneumonia
Transient tachypnoea of the newborn
Meconium aspiration syndrome
Newborn Hearing Assessment
Incidence of congenital hearing loss = 1-3 per 1000 population.
High-risk infants :
In-utero infections Ototoxic medications e.g.
Family history gentamycin
Craniofacial anomalies Bacterial meningitis
Very low birth weight < 1500 grams. Poor Apgar scores
Severe Hyperbilirubinaemia Mechanical ventilation
Toxic by-products
enzyme
Substrate Y Product Z
clinical suspicion for IEM have been diagnosed with IEM; the
majority of them have MSUD (44 patients), urea cycle disorders
(UCD) and methylmalonic acidemia
Thong MK, Yunus ZM. Spectrum of inherited metabolic disorders in Malaysia. Ann Acad Med Singapore. 2008;37(12
Suppl):66-5.
Inborn errors of metabolism cause
learning disability
IEMs may present as rapidly progressive conditions and
cause irreversible damage early on. Treatment can often
be effective if started early: resuscitation, prevention of
catabolism, supportive care, long term monitoring
Lack of awareness of IEM presentation
Immunodeficiency
Others
Screening: advantages
Opportunity to offer health services to those with
unmet needs
Opportunity for the couple to receive information and
making informed decision
Opportunity to modify the course of some diseases
Opportunity to detect other carriers in the family
(cascade screening)
Anxiety relieved if the screening test is negative
Screening: limitations
Psychological costs
Anxieties are raised pre and post testing
Financial costs
Need to have ongoing long-term commitment
Ethical issues
Discharging The Newborn
Review :
Newborn assessment, all necessary screening tests done.
Breastfeeding well Latches well, good suck, address feeding
diffculties.
Urine & stool passage.
Newborn observations – temperature maintenance, respiratory rate.
Vitamin K given
Vaccines : Hepatitis B & BCG
To watch for : jaundice, difficulty feeding, lethargy, decreased
urine & stooling, elevated temperature.
Advise parents on importance of follow-up, vaccines &
keeping of medical health record.