NEWBORN SCREENING

JULIE ANN CHIN-LEGADOS, MD

PEDIATRIC RESIDENT
MINDANAO SANITARIUM AND HOSPITAL
 NEWBORN SCREENING
• Is a public health program for the EARLY
IDENTIFICATION of disorders that can lead to
mental retardation and death
• Part of the standard newborn car
• Part of the newborn care package of Philhealth
• Philhealth package – 1000
– Eye prophylaxis, umbilical cord care, Vit K, BCG – 250
– Hepa B immunization – 250
– Newborn screening test – 500
• Does not allow claims for partial provision
– If newborn screening is to be covered, the other 2
services should also be provided
 NBS disorders
• Congenital Hypothyroidism (CH)
• Congenital Adrenal Hyperplasia (CAH)
• Phenylketonuria (PKU)
• Galactosemia (GAL)
• Glucose 6 Phosphate Dehydrogenase
Deficiency (G6PD def)
• Included in NBS since the effects of these
disorders can be reversed if screened and
treated on time
• Treatment are available in our country
 PREVALENCE (AS OF DEC 2009)

CAH 1824540 217 1:8408

CH 1824540 522 1:3495
G6PD 1746735 34373 1:51
GAL 1824540 20 1:91227
PKU 1824540 15 1:121636
 COMPLICATIONS
EFFECT IF NOT EFFECT IF
SCREENED SCREENED AND
TREATED
CH Severe Growth and Normal
MR
CAH Death Alive and Normal
GAL Death or Cataracts Alive and Normal
PKU Severe MR Normal
G6PD DEF Severe Anemia Normal
Kernicterus
 TIMING
• Is ideally done on the 24 to 72 hours after
birth
– If earlier than 24 hrs of birth, false neg for PKU
and Gal; false positive for CH.
– Repeat sample
• Sick and premature babies must be screened
by the 7th day of life regardless of weight and
age of gestation
• If after 72 hours of life, explained to parents
regarding the golden period
– Time where baby should be able to receive
intervention for her condition to increase chances
for a normal life
– Complications may set in if already late
 GOLDEN PERIOD OUTCOME IF NOT
TREATED
CH 2 WEEKS Severe Growth and
MR
CAH 7 TO 14 DAYS Death
GAL 3 WEEKS Death or Cataracts
PKU 2 WEEKS Severe MR
G6PD DEF Severe Anemia
Kernicterus
 HISTORY
• Started in 1996  sent to Australia
• 1997  NIH
• 2004  Newborn Screening Act (RA 9288)
• 2006  NSC VISayas
• 2009  NSC MIndanao
FLOW OF OPERATIONS
●
MOTIVATING PARENTS

●
COLLECTING SAMPLES

HANDLING AND SENDING SAMPLES TO

●

THE LABORATORY
●
PERFORMING THE TESTS

●
RELAYING/RELEASING RESULTS

●
RECALLING PATIENTS

MONITORING/REFERRAL/MANAGING OF POSITIVE CASES

●
 MOTIVATING PARENTS
• Starts at home< NSF
• Convince parents to have their babies
screened
• Done early to save for NBS fee
 COLLECTING SAMPLES
• Right time
– After 24th hour (24 to 72 hours) after birth
– Adequate milk intake
– Before any procedure such as BT, TPN or before putting
baby on NPO
• Right method
– Heel prick
– Venous blood – used when there are other lab tests
• More invasive and traumatic
• Tends to oversaturate filter card
• Filling out the information
– Do not use pencil
– Feeding information
• Important for PKU and GAl
 METHOD
• Prepare the materials
– Alcohol
– Dry and wet cotton swabs
– Lancet
– Gloves
– Micorpore tape
– Filter card
– Drying rack
• Gently massage the baby’s to warm it
• Wipe with alcohol
• Dry with a cotton swab
• Prick the lateral side of the heel
• Apply intermittent pressure on the area surrounding the heel.
Do not squeeze. Wipe the first blood droplet
• Wait for suffficient blood to form. Drop the blood on card,
filling each circle and uniformly absorbed when viewed from
the back side of card. Do not superimpose the blood on top of
another spot.
• Dry for at least 4 hours. Put in drying rack alternately
 HANDLING AND SENDING SAMPLES TO
LABORATORY
• Do a spot check before sending
• Send ASAP after drying
• Document when specimens were sent out
• Spot check pic
 POSITIVE CASES
• Recall patient
• Facilitate confirmatory testing
• Check if confirmatory testing is done
• Follow-up results for confirmatory test
• REFER
CONGENITAL HYPOTHYROIDISM