1. NEWBORN SCREENING

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

3. NBS DR. ROBERT GUTHRIE DR. ROBERT GUTHRIE FATHER OF NEONATAL SCREENING

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

5. CONDITIONS COMMONLY SCREENED CONGENITAL HYPOTHYROIDISM(CH) CONGENITAL HYPOTHYROIDISM(CH) G6PD DEFICIENCY G6PD DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA (CAH) CONGENITAL ADRENAL HYPERPLASIA (CAH) PHENYLKETONURIA (PKU) PHENYLKETONURIA (PKU) GALACTOSSEMIA GALACTOSSEMIA ORGANIC ACEDEMIAS ORGANIC ACEDEMIAS MAPLE SYRUP URINE DISEASE(MSUD) MAPLE SYRUP URINE DISEASE(MSUD) HOMOCYSTINURIA HOMOCYSTINURIA CYSTIC FIBROSIS CYSTIC FIBROSIS

6. WHY TO SCREEN? TO DIAGNOSE POTENTIALLY FATAL AND DEBILITATING DISORDERS THAT: 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. 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. 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 CHILDREN SHOULD ATTAIN THE SAME HEALTH STATUS AS IN THE DEVELOPED.SS EARLY IDENTIFICATION AND TIMELY INTERVENTION  SIGNIFICANT REDUCTION IN MORBIDITY,MORTALITY AND DISABILITY. 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 4000 IN THE WHOLE WORLD 1 IN 1000 IN MOST OF THE STUDIES OF PAKISTAN. 1 IN 1000 IN MOST OF THE STUDIES OF PAKISTAN. 1 IN 600 IN IODINE DEFICIENT AREAS. 1 IN 600 IN IODINE DEFICIENT AREAS. IAEA EFFORTS- TO START SCREENING PROJECTS IN 2000. IAEA EFFORTS- TO START SCREENING PROJECTS IN 2000. PILOT PROJECT WITH LIMITED FUNDING STARTED IN 2006 AT NORI AND INMOL. PILOT PROJECT WITH LIMITED FUNDING STARTED IN 2006 AT NORI AND INMOL.

9. DATA FROM PAKISTAN INSTITUTI ON CASES SCREENED CASES DETECTED INCIDENC E AKUH50005 1 IN 1000 SHIFA9971 1 IN 997 NORI46004 1 IN 1150 INMOL50005 1 IN 1000

10. PROGRAMME DEMOGRAPHICS COUNTRYPOP(000) Thousan d births IMR NBS started Cov. % paid by paid byCost USD USD AUSTRALIA2015525051967100GOVT6.00 CHINA 1,315, 8444 17 310 21198125FAMILY5.5 INDIA 1,103, 371 25 926 431980<1FAMILY? INDONESIA 222 780 4495181999<1FAMILY2.5 JAPAN 128 085 1 162 21967>99GOVT18.33 MALYSIA 25 347 5475198095 GOVT PVT ? PHILIPINES 83 054 2 018 15199616FAMILY10 PAKISTAN 157 935 4 773 572000<1FAMILY5.0

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

12. NEWBORN SCREENING CARDS

13. NEWBORN SCREENING FILTER CARDS

14. COMPONENTS OF A SCREENING SYSTEM 6 COMPONENTS FOR SELF ASSESSMENT 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 PERFORMANCE EVALUATION ASSESSMENT SCHEME

16. INITIATING NEWBORN SCREENING IN DEVELOPING COUNTRIES- CHALLANGES GETTING STARTED-NEED FOR A DEDICATED TEAM GETTING STARTED-NEED FOR A DEDICATED TEAM SET SHORT TERM, MEDIUM TERM AND LONG TERM GOALS SET SHORT TERM, MEDIUM TERM AND LONG TERM GOALS AS A TEAM CHOOSE THE SCREENING DISORDERS WISELY. AS A TEAM CHOOSE THE SCREENING DISORDERS WISELY. SETTING UP PRACTICAL OPERATIONS. SETTING UP PRACTICAL OPERATIONS. EDUCATION. EDUCATION.

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

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

19. Success Of Newborn Screening Government Parents ADVOCACY Practitioners Non-Gov’t Organizations Academic organizations

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

21. PROBLEMS OF SCREENING IN PAKISTAN PROBLEMS OF SCREENING IN PAKISTAN POOR ECONOMY. POOR ECONOMY. LACK OF RESEARCH  UNDERESTIMATION LACK OF RESEARCH  UNDERESTIMATION NO PRIORITIZATION OF PREVENTIVE AND SCREENING PROGRAMMES BY THE MINISTRY OF HEALTH NO PRIORITIZATION OF PREVENTIVE AND SCREENING PROGRAMMES BY THE MINISTRY OF HEALTH VERY LOW PERCENTAGE OF GDP FOR HEALTH. VERY LOW PERCENTAGE OF GDP FOR HEALTH. LACK OF COMMITMENT. LACK OF COMMITMENT. VOLATILE POLITICAL AND PEACE SITUATION. 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. 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. 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.P.A FORUM -----PRIME MOST TO INCREASE AWARENESS AND TO GET LEGISLATIVE SUPPORT. P.M.A FORUM. 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). 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. 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. THE DRIED BLOOD SPOT TEST WILL BE SOON AVAILABLE TO YOU AT NORI. SEND SAMPLE CARDS BY COURIER. SEND SAMPLE CARDS BY COURIER. INTIMATION OF RESULT ON THE NEXT DAY OF SAMPLE RUN. 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. 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. 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. 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.