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NEWBORN SCREENING NEWBORN SCREENING

NEWBORN SCREENING DR. SAIMA AHSAN CONSULTANT PAEDIATRICIAN PAEC GENERAL HOSPITAL, ISLAMABAD. NEWBORN SCREENING DR. SAIMA AHSAN CONSULTANT PAEDIATRICIAN PAEC GENERAL HOSPITAL, ISLAMABAD.

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

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

CONDITIONS COMMONLY SCREENED n n n n n CONGENITAL HYPOTHYROIDISM(CH) G 6 PD DEFICIENCY CONDITIONS COMMONLY SCREENED n n n n n CONGENITAL HYPOTHYROIDISM(CH) G 6 PD DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA (CAH) PHENYLKETONURIA (PKU) GALACTOSSEMIA ORGANIC ACEDEMIAS MAPLE SYRUP URINE DISEASE(MSUD) HOMOCYSTINURIA CYSTIC FIBROSIS

WHY TO SCREEN? n TO DIAGNOSE POTENTIALLY FATAL AND DEBILITATING DISORDERS THAT: 1 -MANIFEST WHY TO SCREEN? n 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 n AREA OF SCREENING. TIMELY SCREENING IS THE ONLY WAY OF CURE/ PREVENTION.

WHY NBS IS IMPORTANT IN ASIA AND THE PACIFIC? n n n HALF OF WHY NBS IS IMPORTANT IN ASIA AND THE PACIFIC? n n n 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.

INCIDENCE OF CONGENITAL HYPOTHYROIDISM IN PAKISTAN n n n 1 IN 4000 IN THE INCIDENCE OF CONGENITAL HYPOTHYROIDISM IN PAKISTAN n n n 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.

DATA FROM PAKISTAN INSTITUTI ON CASES SCREENED CASES DETECTED INCIDENC E AKUH 5000 5 DATA FROM PAKISTAN INSTITUTI ON CASES SCREENED CASES DETECTED INCIDENC E AKUH 5000 5 1 IN 1000 SHIFA 997 1 1 IN 997 NORI 4600 4 1 IN 1150 INMOL 5000 5 1 IN 1000

PROGRAMME DEMOGRAPHICS COUNTRY POP(000) Thousan IMR NBS d births started Cov. paid by % PROGRAMME DEMOGRAPHICS COUNTRY POP(000) Thousan IMR NBS d births 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 <1 FAMILY ? INDONESIA 222 780 4495 18 1999 <1 FAMILY 2. 5 JAPAN 128 085 1 162 2 1967 >99 GOVT 18. 33 MALYSIA 25 347 5 1980 95 GOVT PVT ? PHILIPINES 83 054 2 018 15 1996 16 FAMILY 10 PAKISTAN 157 935 4 773 57 2000 <1 FAMILY 5. 0

HOW SCREENING IS DONE • • • DBS COLLECTED AT 72 HOURS OF LIFE. HOW SCREENING IS DONE • • • DBS COLLECTED AT 72 HOURS OF LIFE. TSH MORE THAN 20 U/ml -> RECALLED IMMEDIATELY, SERUM TSH AND FT 4 ARE PERFORMED AND CLINICAL EVALUATION DONE. PAEDIATRIC ENDOCRINOLOGIST CONSULTATION. TREATMENT WITH LEVOTHYROXINE. PARENTS EDUCATION. REGULAR FOLLOW UP.

NEWBORN SCREENING CARDS NEWBORN SCREENING CARDS

NEWBORN SCREENING FILTER CARDS NEWBORN SCREENING FILTER CARDS

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

PEAS n PERFORMANCE EVALUATION ASSESSMENT SCHEME PEAS n PERFORMANCE EVALUATION ASSESSMENT SCHEME

INITIATING NEWBORN SCREENING IN DEVELOPING COUNTRIES- CHALLANGES n n • GETTING STARTED-NEED FOR A INITIATING NEWBORN SCREENING IN DEVELOPING COUNTRIES- CHALLANGES n n • 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.

CHALLANGES n n DEVELOP SUSTAINABLE FINANCING. a- GOVERNMENT-MOST IDEAL b- MINISTRY OF HEALTH- MAIN CHALLANGES n n 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).

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

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

PROBLEMS OF NEWBORN SCREENING IN PAKISTAN n n NO NATIONAL SCREENING POLICY/ PROGRAMME. LACK PROBLEMS OF NEWBORN SCREENING IN PAKISTAN n n 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.

PROBLEMS OF SCREENING IN PAKISTAN n n n POOR ECONOMY. LACK OF RESEARCH UNDERESTIMATION PROBLEMS OF SCREENING IN PAKISTAN n n n 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.

SHOULD WE STOP PREVENTION OF INCAPACITATING ILLNESSES? SHOULD WE STOP PREVENTION OF INCAPACITATING ILLNESSES?

COST OF SCREENING COST OF SCREENING

COST OF NOT SCREENING COST OF NOT SCREENING

WORK PLAN n n MAKE A TEAM. FIND A FOCAL PERSON IN EACH HOSPITAL WORK PLAN n n 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.

WORK PLAN n n EXTENSIVE MOTIVATION AND AWARENESS COMPAIGN IN ANTENATAL OPD, POSTNATAL WARDS, WORK PLAN n n 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.

DRIED BLOOD SPOT TEST n n n THE DRIED BLOOD SPOT TEST WILL BE DRIED BLOOD SPOT TEST n n n 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.

CONCLUSION n THE WHOLE WORLD IS WORRIED TO SCREEN THEIR BABIES WITH 1 IN CONCLUSION n 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.