Seminar 1


Neonatal screening?
• Screening, in general, is a public health

service designed to identify individuals in
a population who may be at an increased
risk of a certain disease.
• Neonatal screening is not a diagnostic
• It identifies individuals who may have
the condition so that definitive follow-up
testing can be offered to determine if the
condition is truly present

Age and
checked by




Newborn- 72
doctor, trained
neonatal nurse,

Screening on
examination –
eyes (red
dysplasia of hip
(DDH), testes in

weight and
plot centile

Personal child
Prevention of
sudden infant

5-8 days

Blood spot for

Routine examination of
the newborn infant
1) Birthweight, gestational age and birthweight centile
2) General observation of the baby’s appearance, posture
and movements – baby must be fully undressed:
mongolian blue spots
3) Head circumference
4) Palpate fontanelle and sutures – sagittal suture is often
separated, coronal sutures may be overriding. Tense or
soft fontanelle?
5) Observation of face – port wine stain, strawberry naevus
6) If plethoric or pale, hematocrit level is checked to
identify polycythaemia or anemia
7) Jaundice
8) Eyes – check for red reflex

Most babies will support their head briefly when trunk is held vertically 16) Inspect the back and spine – any midline defects of the skin 17) Test for developmental dysplasia of hip (DDH) . high arch palate 10) Breathing and chest wall movements – signs of respiratory distress 11) Heart auscultation – normal rate in term babies is 110-160 bpm 12) Abdominal inspection and palpation -inguinal hernia -liver: extends 1-2cm below costal margin -Spleen: tip may be palpable -Kidney 13) Pulses 14) Extremities – any extra digits 14) Genitalia and anus – presence of testes in scrotum 15) Muscle tone – observe limb movements.9) Palate – cleft palate.

Pulse oximetry •. G6PD (Glucose-6-phosphate dehydrogenase enzyme deficiency) 2. Eye screening . Screening done for high risk neonates 1. Congenital hypothyroidism 3. Hearing impairment screening 2.Neonatal Screening in Malaysia • Screening done for all babies at birth 1.

Glucose-6-phospate Dehydrogenase Deficiency • The most common red cell enzyme deficiency • X-linked disorder • In G6PD deficiency. partially ingested by reticuloendothelial cells to form “bite cell” . hemoglobin is oxidized and denatured to form Heinz bodies.

G6PD Deficiemcy • Clinical findings • • • • • Neonatal Jaundice (usually 24 hours after birth) Pallor Fatigue Dark urine Spleenomegaly • Laboratory findings: • • • • • Peripheral blood smear shows fragmented bite cells Polychromasia Spherocytosis Heinz bodies Positive direct Coombs test .

G6PD Deficiency Test done in neonates • Simplified test (Beutler’s test or Flourescent test) • • • • Cord blood collection on filter paper Visually identifies NADPH produced by G6PD under ultraviolet light. It can therefore only be done 2–3 weeks after a hemolytic episode. . When the blood spot does not fluoresce. the test is positive. it can be falsely negative in patients who are actively hemolysing.

G6PD Deficiency General tests: • Complete blood count and reticulocyte count. •A "direct antiglobulin test" (Coombs' test) – this should be negative. Heinz bodies can be seen in red blood cells on a blood film • Liver enzymes (to exclude other causes of jaundice). • Lactate dehydrogenase (elevated in hemolysis and a marker of hemolytic severity) •Haptoglobin (decreased in hemolysis). as hemolysis in G6PD is not immunemediated. in active G6PD deficiency. .

G6PD Deficiency– Blood film Bite cells Heinz bodies .

Chloroquine • Antibiotics • Sulphonamides. Nitrofurantoin • Analgesics • Aspirin (in high doses) • Chemicals • Napthalene (mothballs).G6PD Deficiency Management: • Parents should be given advice about the signs of acute hemolysis and provided list of drugs. chemicals and food to avoid • Antimalarials • Primaquine. broad beans) . Divicine (fava beans. Quinine. Quinolones.

• Heme analogue tin-mesoporphyrin (SnMP) has been successful in inhibiting bilirubin production in newborns. but remains an experimental agent.G6PD Deficiency Management: • Hydration • Treatment of hyperbilirubinemia in G6PDdeficient neonates. • Prophylactic oral phenobarbital does not decrease the need for phototherapy or exchange transfusions in G6PD-deficient neonates. when indicated • Phototherapy. exchange transfusions.[ .

.Congenital Hypothyroidism • Occurs in approximately 1:3666 live births in Malaysia. • Thyroid hormones are crucial for • • normal growth and development of brain and intellectual function. ( during prenatal and early postnatal period) Maturation of the fetal lung and bones. • Most commonest preventable causes of mental retardation in children.

Hypothyroidism due to TSH deficiency • Commonest cause for congenital hypothyroidism . Dsymorphogenesis 3. Iodine deficiency 4. Maldescent of thyroid and athyrosis • common for sporadic cases 2.Congenital Hypothyroidism Causes 1.

Clinical diagnosis Most infants are asymptomatic at birth and picked up on screening otherwise • Failure to thrive • Feeding problems • Hoarse cry • Coarse facies • pale mottled dry skin • Prolong neonatal jaundice • Constipation • Large tongue • Goitre • Umblical hernia • Absence of one or both epiphyses on X-ray of left knee (lateral view) .


Congenital Hypothyroidism • Routine biochemical screening (Guthrie test) • Cord blood sample test for TSH. • Thyroid dysfuction secondary to pituitary defects may not be picked up at neonatal screening as they will have low TSH •Other investigations: radioactive iodine uptake study. antithyroid antibodies. ultrasound. . • Identify raised TSH • If high TSH check T4 • If low TSH check for other pituitary defects.

Congenital Hypothyroidism .

. tablet should be crushed and mixed with breast milk. • Advice: Tablet should not be mixed with soy formulas or any preparation that contain iron. because both can reduce the absorption of T4. • Only L-thyroxine should be used.Congenital Hypothyroidism • Treatment is started urgently • Life long treatment. (oral thyrotoxine) unless child is suspected to have transient hypothyroidism where re-evaluation is done at 3 years old.



Useful in detecting duct-dependent heart diseases before cyanosis is present. . Cyanosis only present after PDA closes in duct-dependent heart diseases.Pulse Oximetry Screening Done before discharge from hospital. as the lower limb circulation is affected. pulse oximetry is put on the leg to check the spO2 in the lower limb spO2 is low in coarctation of aorta.

head trauma Hearing test for neonates: Evoked otoacoustic emission (EOAE) test: earphone is placed over the ear and a sound is emitted which evokes echo from ear if cochlear function is normal. Automated auditory brainstem response (AABR) audimetry: EEG waveforms evoked in response to clicks. hyperbilirubinemia. TORCH infection. . Early treatment is essential for hearing pathway development. Hearing impairment screening Neonates with risk factors for hearing loss are screened at week 4-5 of life. meningitis. Risk factors: family history of childhood hearing loss. • Good prognosis (better language and social development) if treatment initiated <6 months.

Eye Screening Eye screening is done in: Premature baby (birth weight<1.5kg or GA<30weeks) Intrauterine growth restriction baby Perinatal complications Eye disorder screened at birth or during infancy: Congenital cataract/retinoblastoma/corneal opacity → checked for red reflex .

Eye Screening Management: Medical or surgical intervention Counselling of parents and follow up Referral to opthalmologist. geneticist if indicated .

Maple-syrup urine disease .Screening tests done in the UK 1. Cystic fibrosis 4. Homocysteinuria 5. Sickle cell disease 3. Phenylketonuria 2. Galactosemia 6.

• For the purpose of screening. date of birth is day 0 (some IT systems record date of birth as day 1) • The test was initially a bacterial inhibition assay. milk feeding and prematurity.Neonatal Heel Prick screening • Previously known as the 'Guthrie' test at 5-8 days of life (ideally on day 5). • The blood spot sample should be taken on day 5 and in exceptional circumstances between day 5 and day 8 for all babies regardless of medical condition. but is gradually being replaced in many areas by newer techniques such as tandem mass spectrometry .

Several drops of blood are collected inside circles on the Guthrie paper. a small bandage is put on the site.Procedure The baby's heel is cleaned with alcohol. When enough blood has been collected. . and then the heel is poked with a small needle.

Galactosemia 2. Phenylketonuria. . a disorder where an error in amino acid metabolism can impair brain development (PKU) 6.Neonatal Heel Prick Screening 1. isoleucine and valine. Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) 5. Immunoreactive Trypsinogen (IRT) to detect cystic fibrosis. 4. Sickle-cell disease 7. 3. It can impair brain development. Maple syrup urine disease (MSUD or Branched Chain Ketonuria) a rare disorder where an error in metabolism inhibits the breakdown of amino acid leucine. Thyroid stimulating hormone (TSH) to detect congenital hypothyroidism and hence prevent cretinism.

chicken breast. Treatment: restriction of dietary phenylalanine e. May be a musty odor due to metabolites phenylacetic acid.g.Phenylketonuria (PKU): Incidence is 1 in 15000 autosomal recessive caused by phenylalanine hydroxylase deficiency results in inability to convert phenylalanine to tyrosine. fish . eggwhites. soy beans. shrimps. some develop eczema and seizures. nuts. results in developmental delay if left untreated. Affected children are fair haired and blue eyed.

which distort red blood cells into a sickle.Sickle cell disease: A group of disorders that affects hemoglobin in red blood cells. Most common in black or originate from tropical Africa or the Caribbean If a child tests positive on the screening test. Sickle β-thalessaemia and sickle trait. . or crescent shape. It includes sickle cell anemia. Have atypical hemoglobin molecules called hemoglobin S (HbS). HbSC disease. a second blood test (called a hemoglobin electrophoresis) should be performed to confirm the diagnosis.


fair complexion and brittle hair. -Treated by large doses of pyridoxine. -Presented with developmental delay. tall. .Homocysteinuria -Autosomal recessive condition -Due to cystathionine synthetase deficiency. This enzyme is responsible for metabolizing homocysteine to cystathionine. eye lens dislocation. thin build (marfanoid body habitus). acute vascular thrombosis.

recurrent chest infections.000 among those with Asian heritage in US. 1/31. Excessive concentrations of sodium and chloride in sweat. Intestine: production of thick viscid meconium leading to meconium ileus in infants. malabsorption. . steatorrhoea. Presentation in infant – meconium ileus in newborn period. Mutations in the gene for cystic fibrosis transmembrane conductance regulator (CFTR) protein resulting in abnormal ion transport across epithelial cells. 1/3200 among whites in US. Can affect lungs. prolonged NNJ. colon and kidney Lungs: reduced airway surface liquid layer and consequent impaired ciliary function and mucopurulent secretion retention.Cystic Fibrosis Autosomal recessive disorder. failure to thrive.

Poor feeding. vomiting. profound depression of CNS. Urine has the odour of maple syrup. Classical form manifests symptom within 1-4 weeks of birth. valine. . isoleucine.000) in general population but much more common in some population isolates.Maple Syrup Urine Disease Also known as branched chain ketoaciduria Autosomal recessive disease Rare (1 in 250. Deficiency of decarboxylase initiates the degradation of the ketoacid analogs of the three branched chain amino acids – leucine. tachypnoea.

Untreated → liver failure. jaundice and hepatomegaly when fed milk.000 Deficiency of galactose-1-phosphate uridyltransferase. developmental delay Treatment: Elimination of dietary galactose results in rapid correction of abnormalities. Infants develop poor feeding.Galactosemia Autosomal recessive condition Very rare. Incidence of 1 in 40. vomiting. cataracts. .


aap. Nelson’s Textbook of Paediatrics. 4th Edition.Medscape. Station 6. www.babyfirstscreening. Clayden 2. Kliegman. Illustrated Textbook of Paediatrics. Lissauer. G . 19th Edition. www. B . T . Malaysian Paediatric Protocol. R . www.References . 3rd Edition 4.

Thank you. for your time and attention  .