NEWBORN SCREENING

DR.RAMESH RAMACHUNDRAN
 Definition
Head to toe physical examination of a newborn to
look for any abnormalities or pathology.

Includes biochemical screening & certain special

screening ( ROP, hearing assesment, Echocardiography)
 Assesment at birth
Physical examination
Biochemical screening
Special screening
Retinopathy Of Prematurity
Hearing assesment
Echocardiography
 Newborn first exam : Apgar Score
0 1 2 1m 5m 10m 15m 20m
Colour Blue or Body pink, Complete pink
pale extremities
blue
Heart rate Absent Slow >100/min
<100/min
Respiratory Absent Slow irregular Good, crying
effort
Muscle tone Limp Some flexion Active motion
Reflex No Grimace Cry/active
irritability response withdrawals
TOTAL
 Physical examination
COMPLETE physical examination within 24 hours
of birth.
It is best to examine when the infant is quiet.
Ensure infant is naked : he/she can be in diapers,
but you have to open it.
Do not forget to wash your hands prior to
examination.
 Measurements
Head circumference :
- a.k.a Occipitofrontal circumference
- place measuring tape around front of head, below the
brow and occipital area.
- Normal range 32cm-37cm
Length & Percentile (refer growth chart)
Weight & Percentile (refer groth chart)
Assesment of Gestational Age & Percentile
-Small for Gestational Age
- Appropriate for Gestational Age
- Large for gestational age
 Vital signs
a) Temperature : Rectal
b) Respirations : Normal rate is 40-60
c) Blood pressure : Correlates with gestational age,
post natal age, birth weight.
d) Pulse rate : Awake 120-160bpm, Asleep 70-80bpm
 SKIN
Colour Rashes
Plethora (deep rosy red) Milia
Jaundice Erythema toxicum
Pallor Candida albicans rash
Cyanosis(central, Transient neonatal pustular
peripheral, acrocyanosis) melanosis
Blue on pink: or Pink on Acne neonatorum
blue
Harlequin colouration
Mottling
SKIN
Nevi/ Pigmented Lesions

Macular hemangioma (stork bites)

Port wine stain (nevus flammeus)
Mongolian spot
Cavernous hemangioma
Strawberry hemangioma
HEAD : General, Cuts, Bruises
o Anterior and posterior fontanelles
- Large anterior fontanelle
- Small anterior fontanelle
- Bulging fontanelle
o Molding
o Caput succedaneum
o Cephalohematoma
o Increased intracranial pressure
o Craniosynostosis
o Craniotabes
 Neck & Facial Features
Face : Look for obvious abnormalities.Note the
general shape of the nose, mouth and chin. Presence
of syndromic features is often diagnosed clinically
throughout experience.

Neck : Note shape, range of motion, and any

webbing; palpate for masses
Brachial palsy
Erbs palsy
Fractured clavicle

Ears : Unusual shape, low set ears, periauricular skin

tags (papillomas), hairy ears.
 Neck & Facial Features
Eyes : Observe shape, size and position of eyes. Note integrity and color of iris and
sclera. Ophthalmoscopic examination to assess pupillary size and red retinal reflex

Nose : Size and Shape;

Note placement of the septum
Formation of the nasal bridge;
Verify patency (Flat nasal bridge , Deviated septum , Choanal atresia ,
Nasal pit )

Mouth : Hard & soft palate for evidence of cleft palate

: Neonatal tooth (predeciduos,true deciduos)
: Macroglossia
: Oral thrush
: Smooth philtrum
 Chest
Observation : respiratory rate, chest symmetrical, sternal/intercostal
/subcostal recession, nasal flaring, grunting, stridor
Breath sounds : Equality bilaterally, presence of any additional sound.
Pectus excavatum : sternum that is altered in shape.
Breast in newborn : May be abnormally enlarged (3-4cm) due to
effects of maternal estrogens.
 Heart :
Observation : heart rate, rhythm, quality of heart sounds, active
precordium
Position of heart : may be determined by auscultation
Presence of murmur
Palpate the pulses (femoral) & define whether its normal, weak or
absent.
Check for perfusion
Signs of congestive heart failure : gallop, tachycardia & abnormal
pulses
 Abdomen
Observation : scaphoid abdomen, omphalocele,
gastroschisis
Palpation : Check for distension, tenderness or
masses. Palpate liver, spleen, kidneys and groin and
note any masses
Auscultation : Listen for bowel sound
Inspect anus for position and verify patency
Umbilicus
Should have 2 arteries 1 vein.
Inspect for discharge, redness or edema around base of the cord
Appearance : should be translucent. A greenish yellowish colour
suggest meconium staining
Genitalia : Any infant with ambiguos genitalia should
not undergo gender assignment until a formal endocrinology
evaluation
Male Female
Length : > 2cm Inspect for size and location of
Determine site of meatus the labia, clitoris, meatus, and
Palpate bilateral testicles vaginal opening
Examine for inguinal hernia Pseudomenses
Look for hypospadias, Vaginal tag a small appendage
epispadias, chordae. or flap on the mucous
membranes; common neonatal
Observe colour of scrotum
variation that usually disappears
Phimosos-foreskin cannot be in a few weeks
retracted
Cryptotorchidism-testes not
descended
Extremities : Examine the arms & legs paying
close attention to the digits

Syndactyly
Polydactyly
Oligodactyly
Congenital Talipes Equinovarus (CTEV)
Metarsus Varus
 Trunk & Spine
Observe curvature and integrity
Check for any gross defects of the spine. An abnormal pigmentation/
hairy patches over the lower back should increase the suspicion that an
underlying vetebral abnormality exists.
A sacral or pilonidal dimple may indicate a small meningocele or
other anomaly.
Spina bifida defect in closure of the neural tube that is associated
with malformations of the vertebrae & spinal cord
Hips
Congenital hip dislocation ( Ortolani & Barlow
Maneuvers)
Assymetry of the skin folds on the dorsal surface
Shortening of the affected leg
Nervous System : Observe for any abnormal
movement/ excessive irritability

Muscle tone
Hypotonia : Floppiness
Hypertonia : Extended arms&legs, hyperextension of back &
tightly clenched fists.
Reflexes
Rooting reflex
Glabellar reflex
Grasp reflex
Neck righting reflex
Moros reflex
Biochemical screening
Simple laboratory investigation to diagnose congenital
metabolic disorder that may lead to mental retardation
and even death if left untreated.
The goal of this screening is to give all newborns a
chance to live a normal life.
It provides the opportunity for early treatment of
diseases that are diagnosed before symptoms appear
Malaysia : G6PD deficiency & Congenital
Hypothyroidism
 G6PD deficiency
G6PD deficiency is one of the most common
genetic diseases affecting an estimated 400 000 000
people worldwide.
All newborn screened for G6PD and in case of
deficiency should be explained to both parents.
Test : Beutler fluorescent spot test : rapid & cheap
test that identifies NADPH produced by G6PD
under UV light.
 Congenital Hypothyroidism
Significant decrease in, or absence of thyroid
function present at birth.
Approximately 1 in 4000 newborn infants has a
severe deficiency of thyroid function, while even
more have mild or partial degrees.
If untreated for several months after birth, severe
congenital hypothyroidism can lead to growth
failure and permanent mental retardation.
Screening for ROP : is a disorder of the
developing retina of low birth weight preterm infants that
potentially leads to blindness.

Infants with a birth weight of less than 1500 g

Gestational age of 32 weeks or less
Infants who required oxygen supply
Hearing Assesment
Early identification of hearing loss and appropriate
intervention within the first 6 months of life has been
demonstrated to prevent many of these adverse
consequences and facilitate language acquisition.
 Hearing Assesment
Family History of Hearing Loss
Perinatal Infection
Craniofacial Anomalies
Very Low Birth Weight
Hyperbilirubinemia
(>340mmol/L) Ototoxic Medications
Bacterial Meningitis Syndrome Associated with
Hearing Loss
Prolonged Ventilation
Severe Asphyxia at Birth
Admission to NICU
 ECHOCARDIOGRAPHY
GDM ON S/C INSULIN
GDM ON DIET CONTROL
ANY CLINICALLY HEARD MURMUR
LARGE FOR GESTATION AGE
NEWBORN WITH MACROSMIC FEATURES
SYNDROMIC NEWBORN (DOWNS SYNDROME,
JAUNDICE
PALLOR