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 : Rectalb) Respirations : Normal rate is 40-60c) Blood pressure : Correlates with

gestational age, post natal age, birth weight.

d) Pulse rate : Awake 120-160bpm, Asleep 70-80bpm

ColourPlethora (deep rosy

red) Jaundice PallorCyanosis(central,

peripheral, acrocyanosis)

“Blue on pink: or “Pink on blue”

Harlequin colourationMottling

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 fontanelleo Moldingo Caput succedaneumo Cephalohematomao Increased intracranial pressureo Craniosynostosiso 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 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.

• 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