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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
pale
Body pink,
extremities
blue
Complete pink
Heart rate Absent Slow
<100/min
>100/min
Respiratory
effort
Absent Slow irregular Good, crying
Muscle tone Limp Some flexion Active motion
Reflex
irritability
No
response
Grimace Cry/active
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
 Colour
Plethora (deep rosy red)
Jaundice
Pallor
Cyanosis(central,
peripheral, acrocyanosis)
“Blue on pink: or “Pink on
blue”
Harlequin colouration
Mottling
 Rashes
 Milia
 Erythema toxicum
 Candida albicans rash
 Transient neonatal pustular
melanosis
 Acne neonatorum
SKIN
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
– Erb’s palsy
– Fractured clavicle
• Ears : Unusual shape, low set ears, periauricular
skin tags (papillomas), hairy ears.
• 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
Neck & Facial Features
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
• Length : > 2cm
• Determine site of meatus
• Palpate bilateral testicles
• Examine for inguinal hernia
• Look for hypospadias,
epispadias, chordae.
• Observe colour of scrotum
• Phimosos-foreskin cannot be
retracted
• Cryptotorchidism-testes not
descended
• Female
• Inspect for size and location of
the labia, clitoris, meatus, and
vaginal opening
• Pseudomenses
• Vaginal tag a small appendage
or flap on the mucous
membranes; common neonatal
variation that usually disappears
in a few weeks
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
– Moro’s 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
developingretina of low birth weight preterm infants that
potentially leads to blindness.
• Infants with a birth weight of less than 1500 g
• Gestationalage of 32 weeks or less
• Infants who required oxygen supply
Hearing Assesment
• Early identification of hearingloss and appropriate
intervention within the first 6 monthsof life has been
demonstrated to prevent many of these adverse
consequences and facilitate language acquisition.
• Family History of Hearing Loss
• Perinatal Infection
• Craniofacial Anomalies
• Very Low Birth Weight
• Hyperbilirubinemia
(>340mmol/L)
• Bacterial Meningitis
• Ototoxic Medications
• Syndrome Associated with
Hearing Loss
• Prolonged Ventilation
• Severe Asphyxia at Birth
• Admission to NICU
Hearing Assesment
ECHOCARDIOGRAPHY
• GDM ON S/C INSULIN
• GDM ON DIET CONTROL
• ANY CLINICALLY HEARD MURMUR
• LARGE FOR GESTATION AGE
• NEWBORN WITH MACROSMIC FEATURES
• SYNDROMIC NEWBORN (DOWN’S SYNDROME,
JAUNDICE
PALLOR
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Newbornexamination

  • 2. 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)
  • 3. • Assesment at birth • Physical examination • Biochemical screening • Special screening • Retinopathy Of Prematurity • Hearing assesment • Echocardiography
  • 4. Newborn first exam : Apgar Score 0 1 2 1m 5m 10m 15m 20m Colour Blue or pale Body pink, extremities blue Complete pink Heart rate Absent Slow <100/min >100/min Respiratory effort Absent Slow irregular Good, crying Muscle tone Limp Some flexion Active motion Reflex irritability No response Grimace Cry/active withdrawals TOTAL
  • 5. 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.
  • 6. 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
  • 7. 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
  • 8.  Colour Plethora (deep rosy red) Jaundice Pallor Cyanosis(central, peripheral, acrocyanosis) “Blue on pink: or “Pink on blue” Harlequin colouration Mottling  Rashes  Milia  Erythema toxicum  Candida albicans rash  Transient neonatal pustular melanosis  Acne neonatorum SKIN
  • 9. SKIN  Nevi/ Pigmented Lesions  Macular hemangioma (“stork bites”)  Port –wine stain (nevus flammeus)  Mongolian spot  Cavernous hemangioma  Strawberry hemangioma
  • 10. 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
  • 11. 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 – Erb’s palsy – Fractured clavicle • Ears : Unusual shape, low set ears, periauricular skin tags (papillomas), hairy ears.
  • 12. • 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 Neck & Facial Features
  • 13. 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.
  • 14. 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
  • 15. 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
  • 16. 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
  • 17. Genitalia : Any infant with ambiguos genitalia should not undergo gender assignment until a formal endocrinology evaluation • Male • Length : > 2cm • Determine site of meatus • Palpate bilateral testicles • Examine for inguinal hernia • Look for hypospadias, epispadias, chordae. • Observe colour of scrotum • Phimosos-foreskin cannot be retracted • Cryptotorchidism-testes not descended • Female • Inspect for size and location of the labia, clitoris, meatus, and vaginal opening • Pseudomenses • Vaginal tag a small appendage or flap on the mucous membranes; common neonatal variation that usually disappears in a few weeks
  • 18. Extremities : Examine the arms & legs paying close attention to the digits • Syndactyly • Polydactyly • Oligodactyly • Congenital Talipes Equinovarus (CTEV) • Metarsus Varus
  • 19. 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
  • 20. Hips • Congenital hip dislocation ( Ortolani & Barlow Maneuvers) – Assymetry of the skin folds on the dorsal surface – Shortening of the affected leg
  • 21. 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 – Moro’s reflex
  • 22. 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
  • 23. 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.
  • 24. 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.
  • 25. Screening for ROP : is a disorder of the developingretina of low birth weight preterm infants that potentially leads to blindness. • Infants with a birth weight of less than 1500 g • Gestationalage of 32 weeks or less • Infants who required oxygen supply
  • 26. Hearing Assesment • Early identification of hearingloss and appropriate intervention within the first 6 monthsof life has been demonstrated to prevent many of these adverse consequences and facilitate language acquisition.
  • 27. • Family History of Hearing Loss • Perinatal Infection • Craniofacial Anomalies • Very Low Birth Weight • Hyperbilirubinemia (>340mmol/L) • Bacterial Meningitis • Ototoxic Medications • Syndrome Associated with Hearing Loss • Prolonged Ventilation • Severe Asphyxia at Birth • Admission to NICU Hearing Assesment
  • 28. ECHOCARDIOGRAPHY • GDM ON S/C INSULIN • GDM ON DIET CONTROL • ANY CLINICALLY HEARD MURMUR • LARGE FOR GESTATION AGE • NEWBORN WITH MACROSMIC FEATURES • SYNDROMIC NEWBORN (DOWN’S SYNDROME,