NEWBORN SCREENINGNEWBORN SCREENING

NEWBORN SCREENING NEWBORN SCREENING

DR. SAIMA AHSAN DR. SAIMA AHSAN

CONSULTANT PAEDIATRICIANCONSULTANT PAEDIATRICIAN

PAEC GENERAL HOSPITAL, PAEC GENERAL HOSPITAL, ISLAMABAD.ISLAMABAD.

NBSNBS

DR. ROBERT DR. ROBERT GUTHRIEGUTHRIE

FATHER OF FATHER OF NEONATAL NEONATAL SCREENINGSCREENING

HISTORY OF SCREENINGHISTORY OF SCREENING

1960s- NEW ZEALAND AND, AUSTRALIA 1960s- NEW ZEALAND AND, AUSTRALIA DRIED BLOOD SPOT(DBS)DRIED BLOOD SPOT(DBS)

JAPAN AND SINGAPOREJAPAN AND SINGAPORE 1980s-CONGENITAL HYPOTHYROIDISM 1980s-CONGENITAL HYPOTHYROIDISM

TAIWAN, HONG KONG, CHINA,INDIA TAIWAN, HONG KONG, CHINA,INDIA AND AND MALAYSIAMALAYSIA

1990s- KOREA, THAILAND, PHILIPINES1990s- KOREA, THAILAND, PHILIPINES 2000s- IAEA LIMITED FUNDING SUPPORT,IN 2000s- IAEA LIMITED FUNDING SUPPORT,IN

INDONESIA, MONGOLIA, SRI LANKA, INDONESIA, MONGOLIA, SRI LANKA, PAKISTAN. PAKISTAN.

CONDITIONS COMMONLY CONDITIONS COMMONLY SCREENEDSCREENED

CONGENITAL HYPOTHYROIDISM(CH)CONGENITAL HYPOTHYROIDISM(CH) G6PD DEFICIENCY G6PD DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA CONGENITAL ADRENAL HYPERPLASIA

(CAH)(CAH) PHENYLKETONURIA (PKU)PHENYLKETONURIA (PKU) GALACTOSSEMIAGALACTOSSEMIA ORGANIC ACEDEMIASORGANIC ACEDEMIAS MAPLE SYRUP URINE DISEASE(MSUD)MAPLE SYRUP URINE DISEASE(MSUD) HOMOCYSTINURIAHOMOCYSTINURIA CYSTIC FIBROSISCYSTIC FIBROSIS

WHY TO SCREEN?WHY TO SCREEN?

TO DIAGNOSE POTENTIALLY TO DIAGNOSE POTENTIALLY FATALFATAL AND AND DEBILITATINGDEBILITATING DISORDERS THAT: DISORDERS THAT:

1-MANIFEST THEMSELVES WHEN IT 1-MANIFEST THEMSELVES WHEN IT IS IS TOO LATE TO TREAT THEM!TOO LATE TO TREAT THEM!

2- HAVE 2- HAVE HIGH PREVELANCEHIGH PREVELANCE IN IN THE THE AREA OF SCREENING.AREA OF SCREENING.

TIMELY SCREENING IS THE TIMELY SCREENING IS THE ONLYONLY WAY WAY OF CURE/ PREVENTION.OF CURE/ PREVENTION.

WHY NBS IS IMPORTANT IN WHY NBS IS IMPORTANT IN ASIA AND THE PACIFIC?ASIA AND THE PACIFIC?

HALF OF THE BIRTHS IN THE WORLD (67 HALF OF THE BIRTHS IN THE WORLD (67 MILLION OUT OF 134 M)- UNICEF 2007.MILLION OUT OF 134 M)- UNICEF 2007.

CHILDREN SHOULD ATTAIN THE SAME CHILDREN SHOULD ATTAIN THE SAME HEALTH STATUS AS IN THE DEVELOPED.SSHEALTH STATUS AS IN THE DEVELOPED.SS

EARLY IDENTIFICATION AND TIMELY EARLY IDENTIFICATION AND TIMELY INTERVENTIONINTERVENTION SIGNIFICANT REDUCTION SIGNIFICANT REDUCTION IN MORBIDITY,MORTALITY AND DISABILITY.IN MORBIDITY,MORTALITY AND DISABILITY.

INCIDENCE OF CONGENITAL INCIDENCE OF CONGENITAL HYPOTHYROIDISM IN PAKISTANHYPOTHYROIDISM IN PAKISTAN 1 IN 4000 IN THE WHOLE WORLD1 IN 4000 IN THE WHOLE WORLD 1 IN 1000 IN MOST OF THE STUDIES OF 1 IN 1000 IN MOST OF THE STUDIES OF

PAKISTAN.PAKISTAN. 1 IN 600 IN IODINE DEFICIENT AREAS.1 IN 600 IN IODINE DEFICIENT AREAS. IAEA EFFORTS- TO START SCREENING IAEA EFFORTS- TO START SCREENING

PROJECTS IN 2000.PROJECTS IN 2000. PILOT PROJECT WITH LIMITED FUNDING PILOT PROJECT WITH LIMITED FUNDING

STARTED IN 2006 AT NORI AND INMOL.STARTED IN 2006 AT NORI AND INMOL.

DATA FROM PAKISTANDATA FROM PAKISTAN

INSTITUTIINSTITUTIONON

CASES CASES SCREENESCREENEDD

CASES CASES DETECTEDDETECTED

INCIDENCINCIDENCEE

AKUHAKUH 50005000 55 1 IN 10001 IN 1000

SHIFASHIFA 997997 11 1 IN 9971 IN 997

NORINORI 46004600 44 1 IN 11501 IN 1150

INMOLINMOL 50005000 55 1 IN 10001 IN 1000

PROGRAMME DEMOGRAPHICSPROGRAMME DEMOGRAPHICSCOUNTRYCOUNTRY POP(000)POP(000) ThousaThousa

nd nd birthsbirths

IMRIMR NBS NBS startestartedd

CoCov.%v.%

paid paid byby

CostCost

USDUSD

AUSTRALIAAUSTRALIA 2015520155 250250 55 19671967 101000

GOVTGOVT 6.006.00

CHINACHINA 1,315, 1,315, 84448444

17 31017 310 2121 19811981 2525 FAMILYFAMILY 5.55.5

INDIAINDIA 1,103, 3711,103, 371 25 92625 926 4343 19801980 <1<1 FAMILYFAMILY ??

INDONESIAINDONESIA 222 780222 780 44954495 1818 19991999 <1<1 FAMILYFAMILY 2.52.5

JAPANJAPAN 128 085128 085 1 1621 162 22 19671967 >9>999

GOVTGOVT 18.3318.33

MALYSIAMALYSIA 25 34725 347 547547 55 19801980 9595 GOVT GOVT PVTPVT

??

PHILIPINESPHILIPINES 83 05483 054 2 0182 018 1515 19961996 1616 FAMILYFAMILY 1010

PAKISTANPAKISTAN 157 935157 935 4 7734 773 5757 20002000 <1<1 FAMILYFAMILY 5.05.0

HOW SCREENING IS DONEHOW SCREENING IS DONE

• DBS COLLECTED AT 72 HOURS OF LIFE.DBS COLLECTED AT 72 HOURS OF LIFE.• TSH MORE THAN 20 U/ml -> RECALLED TSH MORE THAN 20 U/ml -> RECALLED

IMMEDIATELY, SERUM TSH AND FT4 ARE IMMEDIATELY, SERUM TSH AND FT4 ARE PERFORMED AND CLINICAL EVALUATION DONE. PERFORMED AND CLINICAL EVALUATION DONE.

• PAEDIATRIC ENDOCRINOLOGIST PAEDIATRIC ENDOCRINOLOGIST CONSULTATION.CONSULTATION.

• TREATMENT WITH LEVOTHYROXINE.TREATMENT WITH LEVOTHYROXINE.• PARENTS EDUCATION.PARENTS EDUCATION.• REGULAR FOLLOW UP.REGULAR FOLLOW UP.

NEWBORN SCREENING NEWBORN SCREENING CARDSCARDS

NEWBORN SCREENING NEWBORN SCREENING FILTER CARDSFILTER CARDS

COMPONENTS OF A COMPONENTS OF A SCREENING SYSTEMSCREENING SYSTEM

6 COMPONENTS FOR SELF ASSESSMENT 6 COMPONENTS FOR SELF ASSESSMENT

1- EDUCATION1- EDUCATION

2- SCREENING2- SCREENING

3- FOLLOW UP3- FOLLOW UP

4- DIAGNOSIS4- DIAGNOSIS

5- MANAGEMENT5- MANAGEMENT

6- EVALUATION6- EVALUATION

(AMERICAN ACADEMY OF PAEDIATRICS (AMERICAN ACADEMY OF PAEDIATRICS 2000)2000)

PEASPEAS

PERFORMANCE PERFORMANCE EVALUATION EVALUATION ASSESSMENT ASSESSMENT SCHEMESCHEME

INITIATING NEWBORN INITIATING NEWBORN SCREENING IN DEVELOPING SCREENING IN DEVELOPING COUNTRIES- CHALLANGES COUNTRIES- CHALLANGES

GETTING STARTED-NEED FOR A GETTING STARTED-NEED FOR A DEDICATED TEAMDEDICATED TEAM

SET SHORT TERM, MEDIUM TERM AND SET SHORT TERM, MEDIUM TERM AND LONG TERM GOALSLONG TERM GOALS

AS A TEAM CHOOSE THE SCREENING AS A TEAM CHOOSE THE SCREENING DISORDERS WISELY.DISORDERS WISELY.

SETTING UP PRACTICAL OPERATIONS.SETTING UP PRACTICAL OPERATIONS.• EDUCATION.EDUCATION.

CHALLANGESCHALLANGES

DEVELOP SUSTAINABLE FINANCING.DEVELOP SUSTAINABLE FINANCING. a- GOVERNMENT-MOST IDEALa- GOVERNMENT-MOST IDEAL b- MINISTRY OF HEALTH- MAIN b- MINISTRY OF HEALTH- MAIN

PROBLEM IS PROBLEM IS COMPETETION COMPETETION WITH OTHER WITH OTHER PRIORITIES.PRIORITIES.

c- FAMILY- FEE FOR SERVICE.c- FAMILY- FEE FOR SERVICE. ENSURE SYSTEM QUALITY ENSURE SYSTEM QUALITY

(MONITORING AND EVALUATION(MONITORING AND EVALUATION).).

CHALLANGESCHALLANGES

GETTING SUPPORT FROM THE HEALTH GETTING SUPPORT FROM THE HEALTH PROFESSIONALS AND GENERAL PUBLIC.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.

Success Of Newborn

Screening

GovernmentGovernment

ParentsParents

ADVOCACY

Practitioners

Non-Gov’t Non-Gov’t OrganizationsOrganizations

Academic organizations

PROBLEMS OF NEWBORN PROBLEMS OF NEWBORN SCREENING IN PAKISTANSCREENING IN PAKISTAN

NO NATIONAL SCREENING POLICY/ NO NATIONAL SCREENING POLICY/ PROGRAMME.PROGRAMME.

LACK OF AWARENESS AMONG HEALTH LACK OF AWARENESS AMONG HEALTH CARE PROFESSIONALS, PARENTS, CARE PROFESSIONALS, PARENTS, COMMUNITY HEALTH WORKERS AND THE COMMUNITY HEALTH WORKERS AND THE DEPARTMENT OF HEALTH.DEPARTMENT OF HEALTH.

DEFICIENT/ INEFFECTIVELY ORGANIZED DEFICIENT/ INEFFECTIVELY ORGANIZED COMMUNITY HEALTH CARE NETWORK.COMMUNITY HEALTH CARE NETWORK.

INFECTIONS AS MAIN CAUSE OF INFECTIONS AS MAIN CAUSE OF MORTALITY AND MORBIDITY.MORTALITY AND MORBIDITY.

PROBLEMS OF SCREENING PROBLEMS OF SCREENING IN PAKISTANIN PAKISTAN

POOR ECONOMY.POOR ECONOMY. LACK OF RESEARCHLACK OF RESEARCHUNDERESTIMATIONUNDERESTIMATION NO PRIORITIZATION OF PREVENTIVE AND NO PRIORITIZATION OF PREVENTIVE AND

SCREENING PROGRAMMES BY THE MINISTRY SCREENING PROGRAMMES BY THE MINISTRY OF HEALTH OF HEALTH

VERY LOW PERCENTAGE OF GDP FOR VERY LOW PERCENTAGE OF GDP FOR HEALTH.HEALTH.

LACK OF COMMITMENT. LACK OF COMMITMENT. VOLATILE POLITICAL AND PEACE SITUATION.VOLATILE POLITICAL AND PEACE SITUATION.

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

COST OF SCREENINGCOST OF SCREENING

COST OF NOT SCREENINGCOST OF NOT SCREENING

WORK PLANWORK PLAN

MAKE A TEAM.MAKE A TEAM. FIND A FOCAL PERSON IN EACH HOSPITAL FIND A FOCAL PERSON IN EACH HOSPITAL

FROM PAEDS AND OBS DEPARTMENT, FROM PAEDS AND OBS DEPARTMENT, TRAIN HIM/ HER FOR THE SCREENING TRAIN HIM/ HER FOR THE SCREENING PROCEDURES. ACCORDING TO IAEA PROCEDURES. ACCORDING TO IAEA GUIDELINES.GUIDELINES.

P.P.A FORUM -----PRIME MOST TO P.P.A FORUM -----PRIME MOST TO INCREASE AWARENESS AND TO GET INCREASE AWARENESS AND TO GET LEGISLATIVE SUPPORT.LEGISLATIVE SUPPORT.

P.M.A FORUM.P.M.A FORUM.

WORK PLANWORK PLAN

EXTENSIVE MOTIVATION AND AWARENESS EXTENSIVE MOTIVATION AND AWARENESS COMPAIGN IN ANTENATAL COMPAIGN IN ANTENATAL OPD,POSTNATAL WARDS,NICU, PAEDS OPD,POSTNATAL WARDS,NICU, PAEDS WARD,OPD AND VACCINATION CENTRES WARD,OPD AND VACCINATION CENTRES (MAY BE LINKED TO FIRST VACCINATION (MAY BE LINKED TO FIRST VACCINATION VISIT).VISIT).

INVOLVEMENT OF THE MINISTRY OF INVOLVEMENT OF THE MINISTRY OF HEALTH AFTER COMPLETION OF PILOT HEALTH AFTER COMPLETION OF PILOT PROJECT FOR LEGISLATIVE AND FINANCIAL PROJECT FOR LEGISLATIVE AND FINANCIAL SUPPORT.SUPPORT.

DRIED BLOOD SPOT TESTDRIED BLOOD SPOT TEST THE DRIED BLOOD SPOT TEST WILL BE THE DRIED BLOOD SPOT TEST WILL BE

SOON AVAILABLE TO YOU AT NORI.SOON AVAILABLE TO YOU AT NORI. SEND SAMPLE CARDS BY COURIER.SEND SAMPLE CARDS BY COURIER. INTIMATION OF RESULT ON THE NEXT DAY INTIMATION OF RESULT ON THE NEXT DAY

OF SAMPLE RUN.OF SAMPLE RUN. TO START WITH: COST TO BE PAID BY THE TO START WITH: COST TO BE PAID BY THE

PARENTS WORTH OF 200 PKR, EQUIPMENT PARENTS WORTH OF 200 PKR, EQUIPMENT HAS BEEN PROVIDED BY IAEA.HAS BEEN PROVIDED BY IAEA.

FOLLOW UP AT RESPECTIVE HOSPITALSFOLLOW UP AT RESPECTIVE HOSPITALS..

CONCLUSION CONCLUSION

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