NEWBORN SCREENING

1
NEWBORN SCREENING
2
NEWBORN SCREENING

• DR. SAIMA AHSAN
• CONSULTANT PAEDIATRICIAN
• PAEC GENERAL HOSPITAL, ISLAMABAD.

3
NBS

• DR. ROBERT GUTHRIE
• FATHER OF NEONATAL SCREENING

4
HISTORY OF SCREENING

• 1960s- NEW ZEALAND AND, AUSTRALIA DRIED BLOOD
  SPOT(DBS)
• JAPAN AND SINGAPORE
• 1980s-CONGENITAL HYPOTHYROIDISM TAIWAN, HONG
  KONG, CHINA,INDIA AND MALAYSIA
• 1990s- KOREA, THAILAND, PHILIPINES
• 2000s- IAEA LIMITED FUNDING SUPPORT,IN
  INDONESIA, MONGOLIA, SRI LANKA, PAKISTAN.

5
CONDITIONS COMMONLY SCREENED

• CONGENITAL HYPOTHYROIDISM(CH)
• G6PD DEFICIENCY
• CONGENITAL ADRENAL HYPERPLASIA (CAH)
• PHENYLKETONURIA (PKU)
• GALACTOSSEMIA
• ORGANIC ACEDEMIAS
• MAPLE SYRUP URINE DISEASE(MSUD)
• HOMOCYSTINURIA
• CYSTIC FIBROSIS

6
WHY TO SCREEN?

• TO DIAGNOSE POTENTIALLY FATAL AND DEBILITATING
  DISORDERS THAT
• 1-MANIFEST THEMSELVES WHEN IT IS TOO LATE TO
  TREAT THEM!
• 2- HAVE HIGH PREVELANCE IN THE AREA OF
  SCREENING.
• TIMELY SCREENING IS THE ONLY WAY OF CURE/
  PREVENTION.

7
WHY NBS IS IMPORTANT IN ASIA AND THE PACIFIC?

• HALF OF THE BIRTHS IN THE WORLD (67 MILLION OUT
  OF 134 M)- UNICEF 2007.
• CHILDREN SHOULD ATTAIN THE SAME HEALTH STATUS AS
  IN THE DEVELOPED.SS
• EARLY IDENTIFICATION AND TIMELY INTERVENTION?
  SIGNIFICANT REDUCTION IN MORBIDITY,MORTALITY AND
  DISABILITY.

8
INCIDENCE OF CONGENITAL HYPOTHYROIDISM IN PAKISTAN

• 1 IN 4000 IN THE WHOLE WORLD
• 1 IN 1000 IN MOST OF THE STUDIES OF PAKISTAN.
• 1 IN 600 IN IODINE DEFICIENT AREAS.
• IAEA EFFORTS- TO START SCREENING PROJECTS IN
  2000.
• PILOT PROJECT WITH LIMITED FUNDING STARTED IN
  2006 AT NORI AND INMOL.

9
DATA FROM PAKISTAN
INSTITUTION CASES SCREENED CASES DETECTED INCIDENCE
AKUH 5000 5 1 IN 1000
SHIFA 997 1 1 IN 997
NORI 4600 4 1 IN 1150
INMOL 5000 5 1 IN 1000
10
PROGRAMME DEMOGRAPHICS
COUNTRY POP(000) Thousand births IMR NBS started Cov. paid by Cost USD
AUSTRALIA 20155 250 5 1967 100 GOVT 6.00
CHINA 1,315, 8444 17 310 21 1981 25 FAMILY 5.5
INDIA 1,103, 371 25 926 43 1980 lt1 FAMILY ?
INDONESIA 222 780 4495 18 1999 lt1 FAMILY 2.5
JAPAN 128 085 1 162 2 1967 gt99 GOVT 18.33
MALYSIA 25 347 547 5 1980 95 GOVT PVT ?
PHILIPINES 83 054 2 018 15 1996 16 FAMILY 10
PAKISTAN 157 935 4 773 57 2000 lt1 FAMILY 5.0
11
HOW SCREENING IS DONE

• DBS COLLECTED AT 72 HOURS OF LIFE.
• TSH MORE THAN 20 U/ml -gt RECALLED IMMEDIATELY,
  SERUM TSH AND FT4 ARE PERFORMED AND CLINICAL
  EVALUATION DONE.
• PAEDIATRIC ENDOCRINOLOGIST CONSULTATION.
• TREATMENT WITH LEVOTHYROXINE.
• PARENTS EDUCATION.
• REGULAR FOLLOW UP.

12
NEWBORN SCREENING CARDS
13
NEWBORN SCREENING FILTER CARDS
14
COMPONENTS OF A SCREENING SYSTEM

• 6 COMPONENTS FOR SELF ASSESSMENT
• 1- EDUCATION
• 2- SCREENING
• 3- FOLLOW UP
• 4- DIAGNOSIS
• 5- MANAGEMENT
• 6- EVALUATION
• (AMERICAN ACADEMY OF PAEDIATRICS 2000)

15
PEAS

• PERFORMANCE EVALUATION ASSESSMENT SCHEME

16
INITIATING NEWBORN SCREENING IN DEVELOPING
COUNTRIES- CHALLANGES

• GETTING STARTED-NEED FOR A DEDICATED TEAM
• SET SHORT TERM, MEDIUM TERM AND LONG TERM GOALS
• AS A TEAM CHOOSE THE SCREENING DISORDERS WISELY.
• SETTING UP PRACTICAL OPERATIONS.
• EDUCATION.

17
CHALLANGES

• DEVELOP SUSTAINABLE FINANCING.
• a- GOVERNMENT-MOST IDEAL
• b- MINISTRY OF HEALTH- MAIN PROBLEM
  IS COMPETETION WITH OTHER PRIORITIES.
• c- FAMILY- FEE FOR SERVICE.
• ENSURE SYSTEM QUALITY (MONITORING AND
  EVALUATION).

18
CHALLANGES

• GETTING SUPPORT FROM THE HEALTH PROFESSIONALS AND
  GENERAL PUBLIC.
• REACHING THE REMOTE AREAS.
• WORK WITH THE GOVERNMENT.
• SYSTEM WIDE COMMUNICATION.

19
Government
Parents
Practitioners
ADVOCACY
Success Of Newborn Screening
Non-Govt Organizations
Academic organizations
20
PROBLEMS OF NEWBORN SCREENING IN PAKISTAN

• NO NATIONAL SCREENING POLICY/ PROGRAMME.
• LACK OF AWARENESS AMONG HEALTH CARE
  PROFESSIONALS, PARENTS, COMMUNITY HEALTH WORKERS
  AND THE DEPARTMENT OF HEALTH.
• DEFICIENT/ INEFFECTIVELY ORGANIZED COMMUNITY
  HEALTH CARE NETWORK.
• INFECTIONS AS MAIN CAUSE OF MORTALITY AND
  MORBIDITY.

21
PROBLEMS OF SCREENING IN PAKISTAN

• POOR ECONOMY.
• LACK OF RESEARCH?UNDERESTIMATION
• NO PRIORITIZATION OF PREVENTIVE AND SCREENING
  PROGRAMMES BY THE MINISTRY OF HEALTH
• VERY LOW PERCENTAGE OF GDP FOR HEALTH.
• LACK OF COMMITMENT.
• VOLATILE POLITICAL AND PEACE SITUATION.

22

• SHOULD WE STOP PREVENTION OF INCAPACITATING
  ILLNESSES?

23
COST OF SCREENING
24
COST OF NOT SCREENING
25
WORK PLAN

• MAKE A TEAM.
• FIND A FOCAL PERSON IN EACH HOSPITAL FROM PAEDS
  AND OBS DEPARTMENT, TRAIN HIM/ HER FOR THE
  SCREENING PROCEDURES. ACCORDING TO IAEA
  GUIDELINES.
• P.P.A FORUM -----PRIME MOST TO INCREASE AWARENESS
  AND TO GET LEGISLATIVE SUPPORT.
• P.M.A FORUM.

26
WORK PLAN

• EXTENSIVE MOTIVATION AND AWARENESS COMPAIGN IN
  ANTENATAL OPD,POSTNATAL WARDS,NICU, PAEDS
  WARD,OPD AND VACCINATION CENTRES (MAY BE LINKED
  TO FIRST VACCINATION VISIT).
• INVOLVEMENT OF THE MINISTRY OF HEALTH AFTER
  COMPLETION OF PILOT PROJECT FOR LEGISLATIVE AND
  FINANCIAL SUPPORT.

27
DRIED BLOOD SPOT TEST

• THE DRIED BLOOD SPOT TEST WILL BE SOON AVAILABLE
  TO YOU AT NORI.
• SEND SAMPLE CARDS BY COURIER.
• INTIMATION OF RESULT ON THE NEXT DAY OF SAMPLE
  RUN.
• TO START WITH COST TO BE PAID BY THE PARENTS
  WORTH OF 200 PKR, EQUIPMENT HAS BEEN PROVIDED BY
  IAEA.
• FOLLOW UP AT RESPECTIVE HOSPITALS.

28
CONCLUSION

• THE WHOLE WORLD IS WORRIED TO SCREEN THEIR
  BABIES WITH 1 IN 4000 INCIDENCE OF CONGENITAL
  HYPOTHYROIDISM, WHY SHOULD NOT WE THINK ABOUT IT
  WITH 1 IN 1000 OR EVEN MORE.

29
(No Transcript)