Newborn Screening

Question 1

Newborn Screening

Answer 1

• PH program = early identification of disorders (inborn errors of metabolism) which may lead to mental retardation and death
• integral part of routine newborn care, BCG, Vit. K
• 6 disorders

Question 2

How Newborn Screening Began

Answer 2

• first used to detect phenylketonuria
• expanded to include various other inherited conditions
• evolved as responsibility of publyc health system
• project turned into a DOH program

Question 3

How it Started in Ph

Answer 3

• 1996
• 18 private and 6 govt hospitals
• NB screening study group
• Philippine NB Screening Project
• blood sample collected from where NB is born then sent to NB screening center

Question 4

When did NB Screening Become a Law

Answer 4

• 2004
• RA 9288

Question 5

When was NB Screening Included in Philhealth Package

Answer 5

2006

Question 6

Newborn Screening as Law Highlights

Answer 6

RA 9288

• institutionalization of national NB screening system
• obligation of health workers and professionals to informa parents about screening and include in records
• collection may be performed by trained physician, medtech, nurse, midwives
• monitoring and follow up of confirmed px should be done regularly for life (medication maintained for life)
• part of licensing and accreditation of DOH
• requirement for PHIC accreditation
• part of PHIC NB care package
• nursing responsibility: health teaching, when should it be done

Question 7

April 7, 2004

Answer 7

Enactment of Newborn Screening act of 2004

Question 8

October 5, 2004

Answer 8

Signing and Implementing Rules and Regulation of RA 9288

Question 9

Disorders in ENBS

Answer 9

more than 20:
1. endocrine disorders
2. amino acid disorders
3. fatty acid oxidation disorders
4. organic acid disorders
5. urea cycle defects
6. hemogloblinopathies (HGB)
7. others (G6PD deficiency, falactosemia, cystic fibrosis, biotinidase deficiency)

Question 10

NBS Panel of Disorders

Answer 10

1. local prevalence
2. reversible if treated on time
3. treatment is available

Question 11

6 Tests Panel (If Not Screened)

Answer 11

1. congenital hypothyroidism (CH): severe growth
2. congenital adrenal hyperplasia (CAH): death
3. galactosemia (GAL): death or cataracts
4. phenylketonuria (PKU): severe mental retardation
5. G6PD deficiency: severe anemia and kernicterus
6. maple syrup urine disease: death

Question 12

When is NBS Done

Answer 12

• 24-48 hours from birth
• metabolic process not stable right awat to adjust from intra to extrauterine life
• <24 hours: false positive
• treatment at critical age; beyond = irreversible

Question 13

When to Treat Disorder

Answer 13

1. CH: <2 weeks
2. CAH: 7 days
3. PKU: 2 weeks
4. GAL: 7 days
5. MSUD: before 5 days
6. G6PD: avoid trigger agents of hemolysis

Question 14

6 Components of the Philippine NB Screening

Answer 14

1. management
2. screening
3. quality assurance
4. diagnosis
5. follow up
6. education

Question 15

Materials for Blood Sample

Answer 15

• 70% isopropyl alcohol/ sterile water
• dry/ wet cotton balls/ swab
• sterile lancets (3mm tip)
• micropore tape
• drying rack
• completely filled out filter card

Question 16

Heel Prink Method

Answer 16

• preferred method
• umbilical blood not recommended
• 2 punctures in quick succession on lower lateral borders of heel

ALTERNATIVE: venous blood if other blood works are done

Question 17

Do Not Punctures Sites

Answer 17

• arch of foot
• swollen area
• previously punctured are
• fingers

Question 18

Acceptable Samples

Answer 18

• 3mm blood disks

NBS: 8-10
ENBS: 10-12