MOH/K/ASA/96.

18(GU)

NATIONAL
SCREENING PROGRAMME
FOR CONGENITAL
HYPOTHYROIDISM

Ministry of Health Malaysia

2018
 NATIONAL SCREENING
PROGRAMME FOR CONGENITAL
HYPOTHYROIDISM

Ministry of Health Malaysia

2018
FOREWORD

ŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵ;,ͿŝƐŽŶĞŽĨƚŚĞĐŽŶĚŝƟŽŶƐŽĐĐƵƌƌŝŶŐŝŶŶĞǁďŽƌŶƐƚŚĂƚĐŽƵůĚ
ůĞĂĚƚŽŵŽƌďŝĚŝƚLJ͘/ƚŝƐĂůƐŽŽŶĞŽĨƚŚĞŵŽƐƚĐŽŵŵŽŶƉƌĞǀĞŶƚĂďůĞĐĂƵƐĞŽĨŝŶƚĞůůĞĐƚƵĂů
ĚŝƐĂďŝůŝƚLJ͘

dŚŝƐĐŽŶĚŝƟŽŶŵĂLJŶŽƚďĞƌĞĐŽŐŶŝƐĞĚŽƌĚĞƚĞĐƚĞĚĂƚďŝƌƚŚ͕ĂƐŝŶĨĂŶƚƐŵĂLJŶŽƚŚĂǀĞĂŶLJ
ĂƉƉĂƌĞŶƚƐLJŵƉƚŽŵƐŽƌƐŝŐŶƐ͘dƌĞĂƚŵĞŶƚŽĨĐŚŝůĚƌĞŶǁŝƚŚ,ƐŚŽƵůĚďĞĂƐƐŽŽŶĂƐƉŽƐƐŝďůĞ͕
ĂƐůĂƚĞƚƌĞĂƚŵĞŶƚǁŝůůƌĞƐƵůƚŝŶƉŽŽƌŝŶƚĞůůĞĐƚƵĂůƉĞƌĨŽƌŵĂŶĐĞĂŶĚĚĞůĂLJĞĚŐƌŽǁƚŚ͘

dŚƵƐ͕ƚŽĞŶƐƵƌĞƚŚĞŐƌŽǁƚŚĂŶĚĚĞǀĞůŽƉŵĞŶƚŽĨĂůůĐŚŝůĚƌĞŶ͕DŝŶŝƐƚƌLJŽĨ,ĞĂůƚŚŝŵƉůĞŵĞŶƚĞĚƚŚĞŽŶŐĞŶŝƚĂů
,LJƉŽƚŚLJƌŽŝĚŝƐŵ^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵĨŽƌĂůůŶĞǁďŽƌŶƐ͘ĞŐŝŶŶŝŶŐϮϬLJĞĂƌƐĂŐŽŝŶϭϵϵϴǁŝƚŚŽŶůLJϱŚŽƐƉŝƚĂůƐ͕
ƚŽĚĂLJŵŽƌĞƚŚĂŶϰϬϬŚŽƐƉŝƚĂůƐĂŶĚĐůŝŶŝĐƐĨƌŽŵďŽƚŚŐŽǀĞƌŶŵĞŶƚĂŶĚƉƌŝǀĂƚĞŚĞĂůƚŚƐĞĐƚŽƌƐĂƌĞŝŶǀŽůǀĞĚŝŶ
ƚŚĞƐĐƌĞĞŶŝŶŐƉƌŽŐƌĂŵŵĞ͘

ZĞǀŝƐŝŽŶŽĨŐƵŝĚĞůŝŶĞƐŝƐĂǀŝƚĂůƚĂƐŬ͕ĂƐĞĂĐŚĚĂLJ͕ƌĞƐĞĂƌĐŚƐŚŝŶĞƐŶĞǁůŝŐŚƚŽŶŽƵƌƵŶĚĞƌƐƚĂŶĚŝŶŐŽĨŚƵŵĂŶ
ĚĞǀĞůŽƉŵĞŶƚĂŶĚĚŝƐĞĂƐĞ͕ƚĞĐŚŶŽůŽŐŝĞƐĂĚǀĂŶĐĞĂŶĚŶĞǁĂƉƉƌŽĂĐŚĞƐĂƌĞĚŝƐĐŽǀĞƌĞĚ͘dŚŝƐĐƵƌƌĞŶƚƌĞǀŝƐŝŽŶ
ŝƐŝŶůŝŶĞǁŝƚŚWĂĞĚŝĂƚƌŝĐWƌŽƚŽĐŽů͕ǁŚŝĐŚŝŶĐůƵĚĞƐƌĞǀŝƐŝŽŶŽĨĐƵƚͲŽīǀĂůƵĞƐĂŶĚĚĂƚĂĐŽůůĞĐƟŽŶĨŽƌŵĂƚ͘dŚŝƐ
ŐƵŝĚĞůŝŶĞĨŽƌƐĐƌĞĞŶŝŶŐŝƐŵĞĂŶƚĨŽƌƵƐĞďLJƐƚĂīŝŶŚŽƐƉŝƚĂůĂŶĚŚĞĂůƚŚĐůŝŶŝĐƐ͘

/ǁŽƵůĚůŝŬĞƚŽĐŽŶŐƌĂƚƵůĂƚĞƚŚĞŚŝůĚ,ĞĂůƚŚ^ĞĐƚŽƌĨƌŽŵƚŚĞ&ĂŵŝůLJ,ĞĂůƚŚĞǀĞůŽƉŵĞŶƚŝǀŝƐŝŽŶĨŽƌƚŚĞŝƌ
ŚĂƌĚǁŽƌŬĂŶĚĐŽŵŵŝƚŵĞŶƚŝŶĞŶƐƵƌŝŶŐƚŚŝƐŐƵŝĚĞůŝŶĞŝƐƉƌŽĚƵĐĞĚ͘DLJĂƉƉƌĞĐŝĂƟŽŶĂůƐŽƚŽĂůůǁŚŽǁĞƌĞ
ŝŶǀŽůǀĞĚŝŶƚŚĞĚĞǀĞůŽƉŵĞŶƚŽĨƚŚŝƐƵƉĚĂƚĞĚŐƵŝĚĞůŝŶĞ͘

Datuk Dr Noor Hisham bin Abdullah

ŝƌĞĐƚŽƌ'ĞŶĞƌĂůŽĨ,ĞĂůƚŚ
DŝŶŝƐƚƌLJŽĨ,ĞĂůƚŚDĂůĂLJƐŝĂ

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 2
FOREWORD

ŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵ;,ͿŝƐŽŶĞŽĨƚŚĞĐŽŶĚŝƟŽŶƐƌĞƋƵŝƌŝŶŐŵĞĚŝĐĂůĂƩĞŶƟŽŶŝŶ
ŶĞǁďŽƌŶƐĂŶĚƚŚĞDŝŶŝƐƚƌLJŽĨ,ĞĂůƚŚŝŶŝƟĂƚĞĚĂƐĐƌĞĞŶŝŶŐƉƌŽŐƌĂŵŵĞŝŶϭϵϵϴƚŽĞŶƐƵƌĞ
all newborn are screened for CH.

ŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵŝƐĂƚƌĞĂƚĂďůĞĐŽŶĚŝƟŽŶĂŶĚŝĨĂĚĚƌĞƐƐĞĚĞĂƌůLJ͕ŵŽƌďŝĚŝƚLJŝŶ
ƚŚĞĨŽƌŵŽĨŝŶƚĞůůĞĐƚƵĂůĚŝƐĂďŝůŝƚLJĐĂŶďĞĂǀĞƌƚĞĚ͘dŚĞƉƌŽďůĞŵŚŽǁĞǀĞƌůŝĞƐŝŶƚŚĞĨĂĐƚ
ƚŚĂƚŝŶŵŽƐƚďĂďŝĞƐƚŚŝƐĐŽŶĚŝƟŽŶŵĂLJŐŽƵŶŶŽƟĐĞĚƵŶƟůƚŚĞLJƌĞĂĐŚϮŵŽŶƚŚƐŽĨĂŐĞ͕ĂŶĚ
ďLJƚŚĞŶŝŶƚĞůůĞĐƚƵĂůĂŶĚŐƌŽǁƚŚŝŵƉĂŝƌŵĞŶƚǁŽƵůĚŚĂǀĞŽĐĐƵƌƌĞĚ͘&ŽƌƚŚĞƐĞƌĞĂƐŽŶƐ͕ƐĐƌĞĞŶŝŶŐĂƚďŝƌƚŚǁĂƐ
ŝŵƉůĞŵĞŶƚĞĚƚŽĞŶƐƵƌĞĞĂƌůLJƚƌĞĂƚŵĞŶƚŝƐŐŝǀĞŶ͘

dŚĞƐĐƌĞĞŶŝŶŐƉƌŽŐƌĂŵŵĞŚĂƐďĞĞŶŝŶƉůĂĐĞĨŽƌϮϬLJĞĂƌƐĂŶĚŽǀĞƌƚŚĞLJĞĂƌƐŝŶĐƌĞĂƐŝŶŐŶƵŵďĞƌƐŽĨŚŽƐƉŝƚĂůƐ
ĂŶĚŚĞĂůƚŚĐůŝŶŝĐƐŚĂǀĞŝŵƉůĞŵĞŶƚĞĚƚŚĞƐĐƌĞĞŶŝŶŐƉƌŽŐƌĂŵŵĞ͘ŽǀĞƌĂŐĞĨŽƌ,ƐĐƌĞĞŶŝŶŐŝŶƉĂƌƟĐŝƉĂƟŶŐ
ŚŽƐƉŝƚĂůƐŝƐĂůŵŽƐƚϭϬϬй͕ĂŶĚŽǀĞƌƚŚĞLJĞĂƌƐĂŶĂǀĞƌĂŐĞŽĨϮϬϬĐĂƐĞƐĂƌĞŝĚĞŶƟĮĞĚĂŶĚƚƌĞĂƚĞĚĞǀĞƌLJLJĞĂƌ͕
ƚŚĞƌĞďLJ ĂĐŚŝĞǀŝŶŐ ƚŚĞ ŐŽĂů ŽĨ ƚŚĞ ƉƌŽŐƌĂŵŵĞ ŝ͘Ğ͘ ĞĂƌůLJ ĚĞƚĞĐƟŽŶ ĂŶĚ ŝŶƚĞƌǀĞŶƟŽŶ ŽĨ ŽŶŐĞŶŝƚĂů
,LJƉŽƚŚLJƌŽŝĚŝƐŵƚŽƉƌĞǀĞŶƚĚŝƐĂďŝůŝƚLJ͘

dŚĞƐĞ ĂĐŚŝĞǀĞŵĞŶƚƐ ĂƌĞ ƚŚĞ ƌĞƐƵůƚ ŽĨ ĐůŽƐĞ ŶĞƚǁŽƌŬŝŶŐ ĂŶĚ ĐŽŽƌĚŝŶĂƟŽŶ ďĞƚǁĞĞŶ ƚŚĞ KďƐƚĞƚƌŝĐ ĂŶĚ
WĞĚŝĂƚƌŝĐ ĞƉĂƌƚŵĞŶƚƐ͕ ƚŚĞ ůĂďŽƌĂƚŽƌLJ ƐƚĂī ĂŶĚ ƚŚĞ ƐƚĂī ŝŶ ŚĞĂůƚŚ ĐůŝŶŝĐƐ͘  dŚĞ ŐƵŝĚĞůŝŶĞƐ ĚĞǀĞůŽƉĞĚ
ĨĂĐŝůŝƚĂƚĞĂůůŝŶǀŽůǀĞĚƚŽĞŶƐƵƌĞƐŵŽŽƚŚƌƵŶŶŝŶŐŽĨƚŚĞƉƌŽŐƌĂŵŵĞĂŶĚƚŚŝƐŐƵŝĚĞůŝŶĞŚĂƐďĞĞŶƌĞǀŝƐĞĚƚŽ
ĞŶƐƵƌĞƌĞůĞǀĂŶĐĞďLJŝŶĐŽƌƉŽƌĂƟŶŐƚŚĞŶĞǁĂĚĚŝƟŽŶƐƚŽ,ƐĐƌĞĞŶŝŶŐŝŶƚŚĞWĞĚŝĂƚƌŝĐWƌŽƚŽĐŽů͘

/ǁŽƵůĚůŝŬĞƚŽĐŽŶŐƌĂƚƵůĂƚĞƚŚĞŚŝůĚ,ĞĂůƚŚ^ĞĐƚŽƌĨƌŽŵƚŚĞ&ĂŵŝůLJ,ĞĂůƚŚĞǀĞůŽƉŵĞŶƚŝǀŝƐŝŽŶĂŶĚĂůůƚŚĞ
ƚĞĐŚŶŝĐĂůŐƌŽƵƉŵĞŵďĞƌƐĨŽƌƚŚĞŝƌŚĂƌĚǁŽƌŬĂŶĚĐŽŵŵŝƚŵĞŶƚŝŶĞŶƐƵƌŝŶŐƚŚŝƐŐƵŝĚĞůŝŶĞŝƐƉƌŽĚƵĐĞĚ͘

Dr Hajah Faridah Abu Bakar

ĞƉƵƚLJŝƌĞĐƚŽƌ
ŝǀŝƐŝŽŶŽĨ&ĂŵŝůLJ,ĞĂůƚŚĞǀĞůŽƉŵĞŶƚ
Ministry of Health Malaysia

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵ2018 3
TECHNICAL WORKING GROUP

Advisor : ƌ&ĂƌŝĚĂŚŝŶƟďƵĂŬĂƌ
ĞƉƵƚLJŝƌĞĐƚŽƌ
ŝǀŝƐŝŽŶŽĨ&ĂŵŝůLJ,ĞĂůƚŚĞǀĞůŽƉŵĞŶƚ
DŝŶŝƐƚƌLJŽĨ,ĞĂůƚŚ
Chairman : ƌ͘ŵŝŶĂŚĞĞƚDŽŚĚ<ĂƐƐŝŵ
WƵďůŝĐ,ĞĂůƚŚŽŶƐƵůƚĂŶƚ
ŚŝůĚ,ĞĂůƚŚ^ĞĐƚŽƌ
ŝǀŝƐŝŽŶŽĨ&ĂŵŝůLJ,ĞĂůƚŚĞǀĞůŽƉŵĞŶƚ
DŝŶŝƐƚƌLJŽĨ,ĞĂůƚŚ
DĞŵďĞƌƐ
1. Dr Irene Cheah
ŽŶƐƵůƚĂŶƚWĞĂĚŝĂƚƌŝĐƐEĞŽŶĂƚŽůŽŐLJ
<ƵĂůĂ>ƵŵƉƵƌ,ŽƐƉŝƚĂů
2. ƌŚŝŶŚŽLJELJŽŬ
ŽŶƐƵůƚĂŶƚWĞĚŝĂƚƌŝĐŝĂŶ
dĞŶŐŬƵŵƉƵĂŶĨnjĂŶ,ŽƐƉŝƚĂů͕<ƵĂŶƚĂŶ͕WĂŚĂŶŐ
3. ƌŚĞĞ^ĞŽŬŚŝŽŶŐ
ŽŶƐƵůƚĂŶƚWĞĂĚŝĂƚƌŝĐƐEĞŽŶĂƚŽůŽŐLJ
^ĞůĂLJĂŶŐ,ŽƐƉŝƚĂů
4. ƌ&ƵnjŝĂŚDĚĂŝŶ
ŽŶƐƵůƚĂŶƚWĞĚŝĂƚƌŝĐŝĂŶ
WƵƚƌĂũĂLJĂ,ŽƐƉŝƚĂů
5. ĂƚŽ͛ƌ͘,ũŚ͘ƵƌĂŝĚĂŚƚ,ũ͘ďĚ>ĂƟĨ
ŽŶƐƵůƚĂŶƚWĞĂĚŝĂƚƌŝĐƐEĞŽŶĂƚŽůŽŐLJ
ŵƉĂŶŐ,ŽƐƉŝƚĂů
6. WƌŽĨ͘ƌ͘tƵ>ŽŽ>ŝŶŐ
ŽŶƐƵůƚĂŶƚWĞĚŝĂƚƌŝĐŶĚŽĐƌŝŶŽůLJ
hŶŝǀĞƌƐŝƚLJ<ĞďĂŶŐƐĂĂŶDĂůĂLJƐŝĂDĞĚŝĐĂůĞŶƚƌĞ;h<DDͿ
7. ƌ͘ZŽnjŝƚĂƚ͘ď͘ZĂŚŵĂŶ
WƵďůŝĐ,ĞĂůƚŚŽŶƐƵůƚĂŶƚ
ŚŝůĚ,ĞĂůƚŚ^ĞĐƚŽƌ
ŝǀŝƐŝŽŶŽĨ&ĂŵŝůLJ,ĞĂůƚŚĞǀĞůŽƉŵĞŶƚ͕DŝŶŝƐƚƌLJŽĨ,ĞĂůƚŚ
8. ƌ͘ŵLJEƵƌŝLJĂŶĂƚDŽŚĂŵĂĚEĂƐŝƌ
DĞĚŝĐĂůKĸĐĞƌ
ŚŝůĚ,ĞĂůƚŚ^ĞĐƚŽƌ
ŝǀŝƐŝŽŶŽĨ&ĂŵŝůLJ,ĞĂůƚŚĞǀĞůŽƉŵĞŶƚ͕DŝŶŝƐƚƌLJŽĨ,ĞĂůƚŚ
9. ƌ͘^ŝƟ,ĂĨƐĂŚƚďĚƵů,Ăůŝŵ
DĞĚŝĐĂůKĸĐĞƌ
ŚŝůĚ,ĞĂůƚŚ^ĞĐƚŽƌ
ŝǀŝƐŝŽŶŽĨ&ĂŵŝůLJ,ĞĂůƚŚĞǀĞůŽƉŵĞŶƚ͕DŝŶŝƐƚƌLJŽĨ,ĞĂůƚŚ
10. WŶ͘>ŝĚǁŝŶĂƚĚǁŝŶŵŝƌ
,ĞĂůƚŚDĂƚƌŽŶ
ŚŝůĚ,ĞĂůƚŚ^ĞĐƚŽƌ
ŝǀŝƐŝŽŶŽĨ&ĂŵŝůLJ,ĞĂůƚŚĞǀĞůŽƉŵĞŶƚ͕DŝŶŝƐƚƌLJŽĨ,ĞĂůƚŚ

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 4
CONTENT

1. INTRODUCTION: 1
1.1. What Is Congenital Hypothyroidism 6
1.2. Importance Of Congenital Hypothyroidism Screening 7
1.3. Development Of Congenital Hypothyroidism Screening Porgramme 7

2. NATIONAL CONGENITAL
: HYPOTHYROIDISM SCREENING PROGRAMME 10
Ϯ͘ϭKďũĞĐƟǀĞ 10
2.2 Methodology 10
Ă͘ŽůůĞĐƟŽŶŽĨůŽŽĚƐĂŵƉůĞƐĨŽƌd^,ŝŶ,ŽƐƉŝƚĂů 10
ď͘DŝƐƐĞĚ͕/ŶƐƵĸĐŝĞŶƚ͕ůŽŽĚůŽƚ^ĂŵƉůĞƐΘŽƌŶĞĨŽƌĞƌƌŝǀĂůĂƐĞƐ 12
Ϯ͘ϯ&ŝůůŝŶŐhƉŽĨ/ŶǀĞƐƟŐĂƟŽŶ&Žƌŵ;ƉƉĞŶĚŝdžϮͿ 12
Ϯ͘ϰ&ůŽǁĐŚĂƌƚĨŽƌŝŶǀĞƐƟŐĂƟŽŶ
2.5 Level of Cord TSH and FT4 16
Ϯ͘ϲZĞƚĞƐƟŶŐŽĨWĂƟĞŶƚƐ;ŽŶĮƌŵĂƟŽŶͿ 16

3. MANAGEMENT OF CONGENITAL HYPOTHYROIDISM 17

3.1 Management Principles for Congenital Hypothyroidism 17
3.2 Follow-up Protocol for Congenital Hypothyroidism 17

4. MONITORING AND EVALUATION OF THE NATIONAL CONGENITAL HYPOTHYROIDISM 19

SCREENING PROGRAMME

5. RESPONSIBILITIES OF DEPARTMENTS INVOLVED 28

6. CONGENITAL HYPOTHYROIDISM CORD BLOOD SCREENING TEST 32

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂůHLJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 5
1. INTRODUCTION

1.1 WHAT IS CONGENITAL HYPOTHYROIDISM

ŽŶŐĞŶŝƚĂůŚLJƉŽƚŚLJƌŽŝĚŝƐŵ;,ͿŝƐĚĞĮŶĞĚĂƐƚŚLJƌŽŝĚŚŽƌŵŽŶĞĚĞĮĐŝĞŶĐLJ͕ǁŚŝĐŚŝƐƉƌĞƐĞŶƚĂƚ
ďŝƌƚŚ͘ ,ŽǁĞǀĞƌ͕ ƚŚŝƐ ĐŽŶĚŝƟŽŶ ŵĂLJ ŶŽƚ ďĞ ƌĞĐŽŐŶŝƐĞĚ Žƌ ĚĞƚĞĐƚĞĚ Ăƚ ďŝƌƚŚ͕ ĂƐ ŝŶĨĂŶƚƐ ŵĂLJ
ĂƉƉĞĂƌŶŽƌŵĂůǁŝƚŚŶŽĂƉƉĂƌĞŶƚƐLJŵƉƚŽŵƐŽƌƐŝŐŶƐƐĞĞŶ͘

dŚLJƌŽŝĚ ŚŽƌŵŽŶĞ ĚĞĮĐŝĞŶĐLJ Ăƚ ďŝƌƚŚ ĐĂŶ ďĞ ĐĂƵƐĞĚ ďLJ ĂďŶŽƌŵĂůŝƚLJ ŝŶ ƚŚLJƌŽŝĚ ŐůĂŶĚ
ĚĞǀĞůŽƉŵĞŶƚ;ĚLJƐŐĞŶĞƐŝƐͿŽƌĚŝƐŽƌĚĞƌŽĨƚŚLJƌŽŝĚŚŽƌŵŽŶĞďŝŽƐLJŶƚŚĞƐŝƐ;ĚLJƐŚŽƌŵŽŶŽŐĞŶĞƐŝƐͿ
dŚĞƐĞ ƚǁŽ ĂďŶŽƌŵĂůŝƟĞƐ ůĞĂĚ ƚŽ ƉƌŝŵĂƌLJ ŚLJƉŽƚŚLJƌŽŝĚŝƐŵ͘ tŚŝůĞ͕ ĚĞĮĐŝĞŶĐLJ ŽĨ ƚŚLJƌŽŝĚ
ƐƟŵƵůĂƟŶŐ ŚŽƌŵŽŶĞ ;d^,Ϳ ůĞĂĚƐ ƚŽ ƐĞĐŽŶĚĂƌLJ Žƌ ĐĞŶƚƌĂů ,͘ ŶŽƚŚĞƌ ĐĂƚĞŐŽƌLJ ŝŶ , ŝƐ
ƉĞƌŝƉŚĞƌĂů ŚLJƉŽƚŚLJƌŽŝĚŝƐŵ͕ ǁŚŝĐŚ ƌĞƐƵůƚƐ ĨƌŽŵ ĚĞĨĞĐƚƐ ŽĨ ƚŚLJƌŽŝĚ ŚŽƌŵŽŶĞ ƚƌĂŶƐƉŽƌƚ͕
ŵĞƚĂďŽůŝƐŵŽƌĂĐƟŽŶ͘

ŽŶŐĞŶŝƚĂů ŚLJƉŽƚŚLJƌŽŝĚŝƐŵ ĐĂŶ ďĞ ĐůĂƐƐŝĨĞĚ ĂƐ ƉĞƌŵĂŶĞŶƚ Žƌ ƚƌĂŶƐŝĞŶƚ , ;dĂďůĞ ϭͿ͘ /Ŷ
ƉĞƌŵĂŶĞŶƚ , ŵĞĂŶƐ ƚŚĞƌĞ ŝƐ Ă ƉĞƌƐŝƐƚĞŶƚ ĚĞĮĐŝĞŶĐLJ ŽĨ ƚŚLJƌŽŝĚ ŚŽƌŵŽŶĞ ĂŶĚ ůŝĨĞͲůŽŶŐ
ƚƌĞĂƚŵĞŶƚ ŝƐ ƌĞƋƵŝƌĞĚ͘ dƌĂŶƐŝĞŶƚ , ŝƐ ĚĞĮŶĞĚ ĂƐ Ă ƚƌĂŶƐŝĞŶƚ ĂďŶŽƌŵĂůŝƚLJ ŽĨ ƚŚĞ ƚŚLJƌŽŝĚ
ĨƵŶĐƟŽŶ͕ǁŚŝĐŚůĂƚĞƌŶŽƌŵĂůŝƐĞƐĂŶĚŵĂLJŽƌŵĂLJŶŽƚƌĞƋƵŝƌĞƌĞƉůĂĐĞŵĞŶƚƚŚĞƌĂƉLJ͘

dĂďůĞϭ͗ĂƵƐĞƐĂŶĚŝƌƚŚWƌĞǀĂůĂŶĐĞŽĨEĞŽŶĂƚĂůdŚLJƌŽŝĚLJƐĨƵŶĐƟŽŶ

Disorder Prevalence
Permanent disorder
ϭ͘dŚLJƌŽŝĚĚLJƐŐĞŶĞƐŝƐ;ĂŐĞŶĞƐŝƐ͕ŚLJƉŽƉůĂƐŝĂ͕ĞĐƚŽƉŝĂͿ ϭ͗ϰ͕ϱϬϬ
2. Thyroid dyshormonogenesis ϭ͗ϯϬ͕ϬϬϬ
ϯ͘,LJƉŽƚŚĂůĂŵŝĐͲƉŝƚƵŝƚĂƌLJŚLJƉŽƚŚLJƌŽŝĚŝƐŵ ϭ͗ϭϬϬ͕ϬϬϬ
ϰ͘'ĞŶĞƌĂůŝƐĞĚƌĞƐŝƐƚĂŶĐĞƚŽƚŚLJƌŽŝĚŚŽƌŵŽŶĞ Very rare

Transient disorder
ϭ͘dƌĂŶƐŝĞŶƚŚLJƉŽƚŚLJƌŽdžŝŶĞŵŝĂ;ŵĂŝŶůLJƉƌĞŵĂƚƵƌĞŝŶĨĂŶƚƐͿ ϭ͗ϮϬϬϬ
Ϯ͘dƌĂŶƐŝĞŶƚƉƌŝŵĂƌLJŚLJƉŽƚŚLJƌŽŝĚŝƐŵ;ĐŽŵŵŽŶŝŶĂƌĞĂƐŽĨŝŽĚŝŶĞ Variable
ĚĞĮĐŝĞŶĐLJ
3. Transient hyperthyrotropinemia (predominantly seen in Japanese Very rare
ƉŽƉƵůĂƟŽŶͿ

KŌĞŶ ďĂďŝĞƐ ǁŝƚŚ ĐŽŶŐĞŶŝƚĂů ŚLJƉŽƚŚLJƌŽŝĚŝƐŵ ĂƉƉĞĂƌ ŶŽƌŵĂů Ăƚ ďŝƌƚŚ͘ ,ŽǁĞǀĞƌ͕ ƚŚĞ ĞĂƌůLJ
ĨĞĂƚƵƌĞƐ ŝŶĐůƵĚĞ ƵŵďŝůŝĐĂů ŚĞƌŶŝĂ͕ ĐŽŶƐƟƉĂƟŽŶ͕ ƉƌŽůŽŶŐĞĚ ũĂƵŶĚŝĐĞ͕ ƉŽŽƌ ĨĞĞĚŝŶŐ͕ ŝŶĂĐƟǀŝƚLJ
ĂŶĚĚĞůĂLJĞĚďŽŶĞĂŐĞ͘>ĂƚĞĨĞĂƚƵƌĞƐŽĨƵŶƚƌĞĂƚĞĚĐŽŶŐĞŶŝƚĂůŚLJƉŽƚŚLJƌŽŝĚŝƐŵĂƌĞŵĂĐƌŽŐůŽƐƐŝĂ͕
ĐŽĂƌƐĞĨĞĂƚƵƌĞƐ͕ĚƌLJƐŬŝŶĂŶĚŚĂŝƌ͕ŚŽĂƌƐĞĐƌLJ͕ĚĞůĂLJĞĚĚĞǀĞůŽƉŵĞŶƚ͕ƉŽŽƌŐƌŽǁƚŚĂŶĚŵĞŶƚĂů
ƌĞƚĂƌĚĂƟŽŶ͘

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 6
1.2 IMPORTANCE OF CONGENITAL HYPOTHYROIDISM SCREENING

Congenital hypothyroidism cannot be clinically detected at birth and it is the most common
ƉƌĞǀĞŶƚĂďůĞĐĂƵƐĞŽĨŵĞŶƚĂůƌĞƚĂƌĚĂƟŽŶ͘dŚĞĐŚŝůĚŝƐƵƐƵĂůůLJĚŝƐĐŽǀĞƌĞĚƚŽŚĂǀĞĐŽŶŐĞŶŝƚĂů
ŚLJƉŽƚŚLJƌŽŝĚŝƐŵ Ăƚ ĂƌŽƵŶĚ ϮͲϲ ŵŽŶƚŚƐ ŽĨ ĂŐĞ ĂŶĚ ďLJ ƚŚŝƐ ƟŵĞ ƚŚĞƌĞ ĂůƌĞĂĚLJ ŵĂLJ ďĞ
ĐŽŶƐĞƋƵĞŶƚ ďƌĂŝŶ ĚĂŵĂŐĞ͘ ZĞĐĞŶƚ ƉƌŽƐƉĞĐƟǀĞ ƐƚƵĚŝĞƐ ƐŚŽǁ ƚŚĂƚ ƐĐƌĞĞŶŝŶŐ ŶĞŽŶĂƚĞƐ ĂŶĚ
ƚƌĞĂƟŶŐ ĂīĞĐƚĞĚ ďĂďŝĞƐ ǁŝƚŚŝŶ ƚŚĞ ĮƌƐƚ ǁĞĞŬ ŽĨ ůŝĨĞ ƌĞƐƵůƚƐ͕ ŽŶ ĂǀĞƌĂŐĞ͕ ŝŶ ŶŽƌŵĂů Žƌ ŶĞĂƌ
ŶŽƌŵĂů ŝŶƚĞůůĞĐƚƵĂů ƉĞƌĨŽƌŵĂŶĐĞ ĂŶĚ ŐƌŽǁƚŚ Ăƚ ϲͲϭϮ LJĞĂƌƐ͘ ,ĞŶĐĞ ǁŝƚŚŽƵƚ Ă ƐĐƌĞĞŶŝŶŐ
ƉƌŽŐƌĂŵŵĞ͕ ŵŽƐƚ ĐŚŝůĚƌĞŶ ǁŝƚŚ , ĐĂŶŶŽƚ ďĞ ĚĞƚĞĐƚĞĚ ĞĂƌůLJ ĂŶĚ ǁŝůů ďĞ Ăƚ ƌŝƐŬ ŽĨ ŵĞŶƚĂů
ƌĞƚĂƌĚĂƟŽŶ͘

dǁŽ ĐŽƐƚͲďĞŶĞĮƚ ĂŶĂůLJƐŝƐ ĐŽŶĚƵĐƚĞĚ ŝŶ &ƌĂŶĐĞ ĂŶĚ ŝŶ ƚŚĞ hŶŝƚĞĚ ^ƚĂƚĞƐ ƌĞǀĞĂůĞĚ ŽǀĞƌĂůů
ĐŽƐƚͲďĞŶĞĮƚƌĂƟŽŝƐďĞƚǁĞĞŶϭ͗ϴ͘ϵʹϭϯ͘ϴĨŽƌƐĐƌĞĞŶŝŶŐĐŽŶŐĞŶŝƚĂůŚLJƉŽƚŚLJƌŽŝĚŝƐŵ;>ĂLJĚĞĞƚ
Ăů͕ϭϵϳϵΘŚŽŶĚƚĞƚĂů͕ϭϵϵϭͿ͘

1.3 DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM SCREENING PROGRAMME

/ŶƚŚĞƉĂƐƚ͕ƉƌŝŽƌŝƟĞƐŽĨĐŚŝůĚƌĞŶŚĞĂůƚŚĐĂƌĞŝŶDĂůĂLJƐŝĂǁĞƌĞĨŽĐƵƐĞĚŽŶŝŶĨĞĐƟŽƵƐĚŝƐĞĂƐĞƐ
ĂŶĚĐƵƌĂƟǀĞƐĞƌǀŝĐĞƐ͘/ŵƉƌŽǀĞŵĞŶƚŝŶĞĐŽŶŽŵLJƐƚĂƚƵƐĂŶĚĐŚĂŶŐĞƐŝŶůŝĨĞƐƚLJůĞŚĂƐůĞĚƚŽƚŚĞ
ŝŶĐƌĞĂƐĞĂǁĂƌĞŶĞƐƐŽĨƉƌĞǀĞŶƟǀĞŝƐƐƵĞƐŝŶŚĞĂůƚŚĐĂƌĞ͘dŚƵƐŝŶϭϵϵϭ͕ƉĂĞĚŝĂƚƌŝĐŝĂŶƐŝŶDĂůĂLJƐŝĂ
ƐƚĂƌƚĞĚƚŚĞŝŶŝƟĂƟǀĞƚŽŵĂŬĞ,ĂƐĂŶĂƟŽŶĂůƐĐƌĞĞŶŝŶŐƉƌŽŐƌĂŵŵĞ͘&ŝǀĞƐƚƵĚŝĞƐǁĞƌĞĚŽŶĞ
ŝŶǀĂƌŝŽƵƐƉĂƌƚŽĨƚŚĞŶĂƟŽŶƚŽƵŶĚĞƌƐƚĂŶĚƚŚĞůŽĐĂůƐŝƚƵĂƟŽŶŽĨ,͘ĂƚĂĨƌŽŵĨŽƵƌŽĨƚŚĞ
ƐƚƵĚŝĞƐĚĞƐĐƌŝďĞĚƚŚĞďŝƌƚŚƉƌĞǀĂůĞŶĐĞŽĨ,ŝŶDĂůĂLJƐŝĂ;dĂďůĞϮͿ͘&ƌŽŵƚŚĞĚĂƚĂ͕ƚŚĞΗƉŽŽůĞĚΗ
ƌĂƚĞŝƐϭ͗ϯϬϮϵ

Table 2: Birth prevalence of congenital hypothyroidism in Malaysia

Birth prevalence Source

ϭ͗ϮϰϭϬ ,ĂƌƵŶ͕ϭϵϵϮ
ϭ͗Ϯϵϴϯ ŵŵĂƌ͕ϭϵϵϳ
ϭ͗ϯϲϲϲ tƵĞƚĂů͕ϭϵϵϵ
ϭ͗ϯϬϲϱ DĂĨĂƵnjLJĞƚĂů

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 7
Generally, the birth prevalence of congenital hypothyroidism appears to be higher in Malaysia
when compared with Europe or America. There are three possible reasons for this higher
prevalence:
ϭ͘ Consanguinity, which is more common among certain ethnic groups in the region.
However, the majority of cases are not due to inherited defects (thyroid
dyshormonogenesis) but due to thyroid dysgenesis.

2. dƌĂŶƐŝĞŶƚƉƌŝŵĂƌLJŚLJƉŽƚŚLJƌŽŝĚŝƐŵĚƵĞƚŽŝŽĚŝŶĞĚĞĮĐŝĞŶĐLJ͘/ƚŝƐǁĞůůƌĞĐŽŐŶŝƐĞĚƚŚĂƚ
ŝŽĚŝŶĞ ĚĞĮĐŝĞŶĐLJ ĐĂŶ ĂīĞĐƚ ƚŚĞ ƌĞƐƵůƚƐ ŽĨ ƐĐƌĞĞŶŝŶŐ ƚĞƐƚƐ͘ DĂůĂLJƐŝĂ ŚĂƐ͕ ƚŽ ǀĂƌLJŝŶŐ
ĚĞŐƌĞĞƐ͕ƚŚĞƉƌŽďůĞŵŽĨŝŽĚŝŶĞĚĞĮĐŝĞŶĐLJŝŶ^ĂďĂŚĂŶĚ^ĂƌĂǁĂŬĂŶĚŝƐŽůĂƚĞĚĚŝƐƚƌŝĐƚŝŶ
Peninsular Malaysia.

3. dŚŝƐƉƌĞǀĂůĞŶĐĞŵĂLJƉŽƐƐŝďůLJďĞƌĞŇĞĐƟŶŐƚŚĞƚƌƵĞŐĞŶĞƟĐƐŝƚƵĂƟŽŶŝŶƚŚĞƌĞŐŝŽŶ͘

/Ŷϭϵϵϳ͕DK,ŝŶŝƟĂƚĞĚĂŶĂƟŽŶĂůĐŽŵŵŝƩĞĞƚŽůŽŽŬŝŶƚŽƚŚĞŝŵƉůĞŵĞŶƚĂƟŽŶŽĨĂŶĂƟŽŶĂů
screening programme. A Health Technology Assessment was done to determine the safety,
ĞīĞĐƟǀĞŶĞƐƐĂŶĚĐŽƐƚĞīĞĐƟǀĞŶĞƐƐŽĨƐĐƌĞĞŶŝŶŐĨŽƌ,͘ŌĞƌŽŶĞLJĞĂƌŽĨĂƐƐĞƐƐŵĞŶƚ͕ŝƚǁĂƐ
ƌĞƉŽƌƚĞĚƚŚĂƚĂŶĂƟŽŶĂůƐĐƌĞĞŶŝŶŐƉƌŽŐƌĂŵŵĞĨŽƌ,ƐŚŽƵůĚďĞŝŶƐƟƚƵƚĞĚ͘ƐĂƌĞƐƵůƚ͕ƚŚĞ
ŶĂƟŽŶĂůƐĐƌĞĞŶŝŶŐƉƌŽŐƌĂŵŵĞĨŽƌ,ŽĸĐŝĂůůLJƐƚĂƌƚĞĚŝŶKĐƚŽďĞƌϭϵϵϴǁŝƚŚƚŚĞŽďũĞĐƟǀĞŽĨ
screening all newborn for CH and managing them appropriately to prevent mental disability.

dŚĞ ĮƌƐƚ ĚƌĂŌ ĨŽƌ ŶĂƟŽŶĂů ƐĐƌĞĞŶŝŶŐ ŵĂŶƵĂů ǁĂƐ ƉƌĞƉĂƌĞĚ ŝŶ KĐƚŽďĞƌ ϭϵϵϴ ĂŶĚ ƚŚĞ
ƉƌŽŐƌĂŵŵĞ ǁĂƐ ĐŽŵŵĞŶĐĞĚ ŝŶ ƚŚƌĞĞ ƌĞŐŝŽŶĂů ŚŽƐƉŝƚĂůƐ ;^ĞƌĞŵďĂŶ͕ <ůĂŶŐ͕ /ƉŽŚͿ ĂŶĚ ŽŶĞ
ĚŝƐƚƌŝĐƚŚŽƐƉŝƚĂů;WŽƌƚŝĐŬƐŽŶͿ͘ŌĞƌϭLJĞĂƌ͕ĞǀĂůƵĂƟŽŶŽĨƚŚĞƉƌŽŐƌĂŵŵĞǁĂƐĚŽŶĞĂŶĚDK,
ĚĞĐŝĚĞĚƚŽĨƵƌƚŚĞƌĞdžƉĂŶĚƚŚĞƉƌŽŐƌĂŵŵĞƚŚƌŽƵŐŚŽƵƚƚŚĞǁŚŽůĞŶĂƟŽŶ͘tŝƚŚƚŚĞĞdžƉĂŶƐŝŽŶ
ŽĨƚŚĞƉƌŽŐƌĂŵŵĞŵŽƌĞŚĞĂůƚŚĨĂĐŝůŝƟĞƐǁĞƌĞŝŶǀŽůǀĞĚ;Table 3) and more newborn babies
ĐŽƵůĚ ďĞ ƐĐƌĞĞŶĞĚ͘ dŽ ĞŶƐƵƌĞ ƚŚĂƚ ƚŚĞ ƉƌŽŐƌĂŵŵĞ ƌĂŶ ƐŵŽŽƚŚůLJ Ă ŶĂƟŽŶĂů ŐƵŝĚĞůŝŶĞ ǁĂƐ
ĚĞǀĞůŽƉĞĚŶĂŵĞĚĂƐ͚WƌŽƚŽĐŽůĨŽƌEĂƟŽŶĂů^ĐƌĞĞŶŝŶŐĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵ͚͕ǁŚŝĐŚ
ǁĂƐĚĞǀĞůŽƉĞĚŝŶƚŚĞLJĞĂƌϮϬϬϬĂŶĚƌĞǀŝƐĞĚŝŶϮϬϭϭ͘

dĂďůĞϯ͗EƵŵďĞƌŽĨŚĞĂůƚŚĨĂĐŝůŝƟĞƐŝŶǀŽůǀĞĚŝŶ,ƐĐƌĞĞŶŝŶŐƉƌŽŐƌĂŵŵĞ

EƵŵďĞƌŽĨŚŽƐƉŝƚĂůΘĐůŝŶŝĐ EƵŵďĞƌŽĨŚŽƐƉŝƚĂůǁŝƚŚůĂď
Year ĨĂĐŝůŝƚLJ;ĂŶĂůLJƐĞƌͿĨŽƌĐŽƌĚd^,
Government Private Government Private
ϭϵϵϵ ϭϬ 0 NA NA
2005 ϳϱ NA 25 NA
2008 ϭϬϰ ϭϲ 25 NA
ϮϬϭϮ ϭϭϳ ϵϰ NA NA
ϮϬϭϱ 385 ϭϯϵ ϰϵ ϯϵ
*NA: Not Available

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 8
Compared to other countries, Malaysia has chosen cord blood sampling as the sample
ĐŽůůĞĐƟŽŶŵĞƚŚŽĚ͕ĚƵĞƚŽ͖

ϭ͘ DŽďŝůŝƚLJŽĨŵŽƚŚĞƌĂŌĞƌƚŚĞĚĞůŝǀĞƌLJŽĨƚŚĞŝƌĐŚŝůĚƌĞŶ

Ϯ͘ >ŝŵŝƚĞĚŚŽŵĞǀŝƐŝƚƐďLJŵĞĚŝĐĂůƐƚĂīŝŶƚŚĞƉŽƐƚͲŶĂƚĂůƉĞƌŝŽĚĞƐƉĞĐŝĂůůLJŝŶƚŚĞƵƌďĂŶ
ƐĞƫŶŐƐ

ϯ͘ ŝĸĐƵůƚƚŽŐĞƚƉĂƌĞŶƚƐƌĞƐƉŽŶĚĨŽƌĂƉƌĞǀĞŶƟǀĞƉƌŽŐƌĂŵŵĞ;ǁŚĞƌĞďůŽŽĚĐŽůůĞĐƟŽŶŝƐ
ĚŽŶĞŽŶĂŶĂƉƉĂƌĞŶƚůLJŶŽƌŵĂůĐŚŝůĚͿ͘

ϰ͘ ůůŽǁƐ ĨŽƌ Ă ŵƵĐŚ ŚŝŐŚĞƌ ĐŽǀĞƌĂŐĞ ŽĨ ŝŶĨĂŶƚƐ ĂƐ ĂůŵŽƐƚ х ϴϱй ŽĨ ĚĞůŝǀĞƌŝĞƐ ǁĞƌĞ
conducted in the hospitals or by trained personal at home,

ϱ͘ ZĞĚƵĐĞƐƚŚĞĐŽƐƚŽĨƐĐƌĞĞŶŝŶŐĂƐƚŚĞŵĞĐŚĂŶŝƐŵĨŽƌďůŽŽĚƐĂŵƉůĞĐŽůůĞĐƟŽŶǁŝůůďĞ
ůŝŶŬĞĚ ƚŽ ƚŚĞ ĞƐƚĂďůŝƐŚĞĚ ĐŽƌĚ ďůŽŽĚ ƐĐƌĞĞŶŝŶŐ ƉƌŽŐƌĂŵŵĞĨŽƌ 'ůƵĐŽƐĞͲϲͲƉŚŽƐƉŚĂƚĞ
ĚĞŚLJĚƌŽŐĞŶĂƐĞ;'ϲWͿĚĞĮĐŝĞŶĐLJ

ϲ͘ ŽƌĚďůŽŽĚƐĂŵƉůŝŶŐŝƐƐŝŵƉůĞ͕ŶŽŶͲŝŶǀĂƐŝǀĞĂŶĚŽīĞƌƐƚŚĞĞĂƌůŝĞƐƚƉŽƐƚŶĂƚĂůĚŝĂŐŶŽƐŝƐ

The test strategy adopted in Malaysia is primary TSH measurement supplemented by T4

ĚĞƚĞƌŵŝŶĂƟŽŶ ŝŶ ďŽƌĚĞƌůŝŶĞ ƐĂŵƉůĞƐ͘ /ŶĨĂŶƚƐ ǁŝƚŚ ĞůĞǀĂƚĞĚ d^, ǀĂůƵĞƐ͕ ĂŶĚ ƚŚŽƐĞ ǁŝƚŚ
ďŽƌĚĞƌůŝŶĞǀĂůƵĞƐΘůŽǁ&dϰ͕ĂƌĞƌĞĐĂůůĞĚĨŽƌƚĞƐƟŶŐ͘dŚŝƐĂƉƉƌŽĂĐŚĚŽĞƐƌƵŶƚŚĞƉŽƐƐŝďŝůŝƚLJŽĨ
ŵŝƐƐŝŶŐ ƐĞĐŽŶĚĂƌLJ ĂŶĚ ƚĞƌƟĂƌLJ ŚLJƉŽƚŚLJƌŽŝĚŝƐŵ ;ϭ͗ϭϬϬ͕ϬϬϬ ďŝƌƚŚƐͿ͘ ,ŽǁĞǀĞƌ͕ ŝƚ ŝƐ ƚŚĞ ůĞĂƐƚ
ĞdžƉĞŶƐŝǀĞ ŽƉƟŽŶ ǁŝƚŚ ƚŚĞ ůŽǁĞƐƚ ƌĞĐĂůů ƌĂƚĞƐ ;Ϭ͘Ϭϯ ʹ Ϭ͘ϴϱͿ͘ dŚŝƐ ƐĐƌĞĞŶŝŶŐ ĂƉƉƌŽĂĐŚ ŝƐ
ĞƐƉĞĐŝĂůůLJ ŝŶ ǀŝĞǁ ŽĨ ƚŚĞ ĚĞǀĞůŽƉŵĞŶƚ ŽĨ ŶĞǁĞƌ d^, ĂƐƐĂLJƐ ;ĞŶnjLJŵĞ ůŝŶŬĞĚ ŝŵŵƵŶŽĂƐƐĂLJƐ͕
ĐŚĞŵŝůƵŵŝŶĞƐĐĞŶƚĂƐƐĂLJƐĂŶĚŇƵŽƌŽŝŵŵƵŶŽĂƐƐĂLJƐͿǁŚŝĐŚŽīĞƌŐƌĞĂƚĞƌƐĞŶƐŝƟǀŝƚLJĂŶĚďĞƩĞƌ
ƐĞƉĂƌĂƟŽŶ ďĞǁĞĞŶ ŶŽƌŵĂů ĂŶĚ ĂďŶŽƌŵĂů d^, ǀĂůƵĞƐ͘ hƐŝŶŐ Ă ĐŽŵďŝŶĞĚ d^, ĂŶĚ &dϰ
ƐĐƌĞĞŶŝŶŐĂƉƉƌŽĂĐŚǁŽƵůĚďĞƚŽŽĞdžƉĞŶƐŝǀĞ͘hƐŝŶŐĂƉƌŝŵĂƌLJ&dϰĂƉƉƌŽĂĐŚǁŽƵůĚŝŶǀŽůǀĞĚĂ
ůĂƌŐĞƌĞĐĂůůŽĨƵƉƚŽϮй͘

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 9
2. NATIONAL CONGENITAL HYPOTHYROIDISM SCREENING PROGRAMME

Ϯ͘ϭKďũĞĐƟǀĞ

Ă͘ 'ĞŶĞƌĂůŽďũĞĐƟǀĞ͗
All newborns with congenital hypothyroidism will be detected early and managed
ĂƉƉƌŽƉƌŝĂƚĞůLJƚŽƉƌĞǀĞŶƚŵĞŶƚĂůĚŝƐĂďŝůŝƚLJ͘

ď͘ ^ƉĞĐŝĮĐŽďũĞĐƟǀĞƐ͗
ŝ͘ To screen all newborns for congenital hypothyroidism
ŝŝ͘ To ensure the use of appropriate screening technology which meets quality
ƐƚĂŶĚĂƌĚƐ͘
ŝŝŝ͘ dŽ ĞŶƐƵƌĞ Ăůů ŶĞǁďŽƌŶƐ ǁŝƚŚ ĐŽŶŐĞŶŝƚĂů ŚLJƉŽƚŚLJƌŽŝĚŝƐŵ ǁŝůů ƌĞĐĞŝǀĞ ƚƌĞĂƚŵĞŶƚ
ǁŝƚŚŝŶƚŚĞĮƌƐƚϮǁĞĞŬƐŽĨůŝĨĞ
ŝǀ͘ To promote community awareness of congenital hypothyroidism

2.2 Methodology

Ă͘ ŽůůĞĐƟŽŶŽĨůŽŽĚƐĂŵƉůĞƐĨŽƌd^,ŝŶ,ŽƐƉŝƚĂů
ŝ͘ /ŵŵĞĚŝĂƚĞůLJĂŌĞƌĚĞůŝǀĞƌLJ͕ĐůĞĂŶŵĂƚĞƌŶĂůƐŝĚĞŽĨƚŚĞĐŽƌĚǁŝƚŚƐƚĞƌŝůĞŐĂƵnjĞĂŶĚ
ĐŽůůĞĐƚƚŚĞďůŽŽĚƐĂŵƉůĞ͘(Appendix 1)
ŝŝ͘ ůůŽǁĨƌĞĞŇŽǁŽĨďůŽŽĚĨƌŽŵƚŚĞĐŽƌĚĚŝƌĞĐƚůLJƚŽƚŚĞƚƵďĞ;ŝĨLJŽƵŶĞĞĚƚŽ͚ŵŝůŬ͕͛ĚŽ
ŝƚŐĞŶƚůLJƚŽƉƌĞǀĞŶƚŚĞŵŽůLJƐŝƐͿ
ŝŝŝ͘ dŚĞƚƵďĞƐŚŽƵůĚďĞĮůůĞĚǁŝƚŚĂŵŝŶŝŵƵŵŽĨϯŵůŽĨďůŽŽĚ͘;ůůŽǁƐƉĂĐĞĨŽƌƚŚĞĐĂƉ
ƚŽďĞƉƵƐŚĞĚŝŶͿ
ŝǀ͘ >ĂďĞůƚŚĞƚƵďĞŝŵŵĞĚŝĂƚĞůLJ͘ŽŵƉůĞƚĞŝŶǀĞƐƟŐĂƟŽŶĨŽƌŵ͘
ǀ͘ ^ĞŶĚƚŚĞƐĂŵƉůĞƚŽƚŚĞůĂďŽƌĂƚŽƌLJǁŝƚŚƚŚĞĨŽƌŵĂƚƚŚĞŶŽƌŵĂůƌŽƵƟŶĞŝŶƚĞƌǀĂůƐ
ǁŝƚŚŝŶϮϰŚŽƵƌƐ͘
ǀŝ͘ For handling of blood samples at the laboratory; refer to Flowchart 1͘

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 10
Flow chart 1: Handling of blood samples at the laboratory

CONGENITAL HYPOTHYROIDISM
FLOW CHART FOR CORD BLOOD ASSAY

Collect cord blood into plain/heparinised or gel tubes.

Sent samples to hospital laboratory within 24 hours.
Keep sample at room temperature if sending to lab is delayed.

Sample unsuitable Sample and form do not tally

Inform Check sample Inform labour

paediatric clinic and forms room staī
immediately

Centrifuge
sample

Keep
No
serum/plasma at 2-
o
8 C not more than TesƟng done in the
72 hours same hospital

Yes

Send to Analysis of specimen

ƚĞƐƟŶŐůĂďŽƌĂƚŽƌLJ (Refer to work instruĐƟon)

Insuĸcient sample Invalid

Validate results

Valid

Decision

Abnormal/borderline results Normal results

Dispatch results and form

to11
Paediatric Clinic

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 11
 b. DŝƐƐĞĚ͕/ŶƐƵĸĐŝĞŶƚ͕ůŽŽĚůŽƚ^ĂŵƉůĞƐΘŽƌŶĞĨŽƌĞƌƌŝǀĂůĂƐĞƐ
i. If for some reason the blood sample has not been taken from the cord then it
ƐŚŽƵůĚďĞƚĂŬĞŶĨƌŽŵƚŚĞďĂďLJĂƐƐŽŽŶĂƐƉŽƐƐŝďůĞĂŌĞƌƚŚĞƚŚŝƌĚĚĂLJŽĨůŝĨĞ͘dŚŝƐŝƐ
ƚŽĂǀŽŝĚƚŚĞd^,ƐƵƌŐĞƚŚĂƚŽĐĐƵƌƐЪŚŽƵƌĂŌĞƌďŝƌƚŚƚŽĂďŽƵƚϳϮŚŽƵƌƐŽĨĂŐĞĂŶĚ
ƚŽĞŶƐƵƌĞĞĂƌůLJƚƌĞĂƚŵĞŶƚďĞĨŽƌĞϮǁĞĞŬƐŽĨůŝĨĞĨŽƌďĞƩĞƌƉƌŽŐŶŽƐŝƐ͘

ii. &ŝůůƵƉƚŚĞĚĂƚĂĐŽůůĞĐƟŽŶĨŽƌŵ;ƉƉĞŶĚŝdžϮ) and send this to the Paediatric doctor

ŝŶĐŚĂƌŐĞ͘/ŶĂĚĚŝƟŽŶ͕ŐŝǀĞƉĂƌĞŶƚƐƚŚĞŝŶƐƚƌƵĐƟŽŶƐŚĞĞƚĂŶĚƚŚĞĚĂƚĞƚŽƌĞƚƵƌŶĨŽƌ
ĂďůŽŽĚƐĂŵƉůĞ;ĂŌĞƌƚŚĞϯǤǖĚĂLJŽĨůŝĨĞͿ͘

iii. dŚĞWĂĞĚŝĂƚƌŝĐĞƉĂƌƚŵĞŶƚŝƐƌĞƐƉŽŶƐŝďůĞƚŽĐŽůůĞĐƚƚŚĞďůŽŽĚƐĂŵƉůĞ͘dŚĞďůŽŽĚ
ƐĂŵƉůĞĐŽůůĞĐƚĞĚĂŌĞƌƚŚĞϯǤǖĚĂLJŽĨůŝĨĞƐŚŽƵůĚďĞǀĞŶŽƵƐƐĂŵƉůĞŽĨĂƚůĞĂƐƚϮŵůƐ͘

Ϯ͘ϯ&ŝůůŝŶŐhƉŽĨ/ŶǀĞƐƟŐĂƟŽŶ&Žƌŵ;ƉƉĞŶĚŝdžϮͿ

>ĂďĞůůŝŶŐĂŶĚĐŽŵƉůĞƟŽŶŽĨƚŚĞĚĂƚĂĐŽůůĞĐƟŽŶĨŽƌŵĂƌĞĂƐĨŽůůŽǁ͗
i. ŝŽĚĂƚĂŽĨƚŚĞŶĞǁďŽƌŶĂƐŝŶŝƚĞŵϭͲϴƐŚŽƵůĚďĞĮůůĞĚŝŶďLJůĂďŽƵƌƌŽŽŵƐƚĂī

ii. /ƚĞŵƐϵͲϭϬĂƌĞƚŽďĞĮůůĞĚďLJƚŚĞůĂďŽƌĂƚŽƌLJƐƚĂī

Ϯ͘ϰ&ůŽǁĐŚĂƌƚĨŽƌŝŶǀĞƐƟŐĂƟŽŶ

ZĞĨĞƌƚŽŇŽǁĐŚĂƌƚϮͲϰ

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 12
 Flow chart 2: Screening for Congenital Hypothyroidism at Hospital with T4/TSH Screening
&ĂĐŝůŝƟĞƐ

Cord blood sample collected at birth in labour room¹

Sent to screening hospital lab for TSH

Missed
Normal² Borderline²,³ High TSH²,³ cases
(< 20mU/L) (20-60mU/L) (> 60mU/L)

FT4 analysis
(on cord blood)

FT4 Normal FT4 Low²

(> 15pmol/l) ;ч 15pmol/l)

Babies not discharged Babies discharged

take
¹ ůŽŽĚƚĂŬĞŶďLJƐƚĂīǁŚŽĐŽŶĚƵĐƚƐƚŚĞ
Recall babies urgently
ĚĞůŝǀĞƌLJ͘/ŶǀĞƐƟŐĂƟŽŶĨŽƌŵĨŽƌ
- By phone
ƐĐƌĞĞŶŝŶŐŽĨd^,ƚŽďĞĮůůĞĚƵƉďLJ
- Through nearest
ĂƩĞŶĚŝŶŐƐƚĂī
ŚĞĂůƚŚĐůŝŶŝĐͬŽĸĐĞϺ
² Result to be sent to paediatric clinic
ĂŶĚĐŽŵƉŝůĞĚďLJƐƚĂīŝŶĐŚĂƌŐĞ͘
³ >ĂďƚŽŝŶĨŽƌŵƌĞůĞǀĂŶƚŽĸĐĞƌͬƐƚĂīĂƚ
Pediatric Clinic to recall for cases Refer baby to Paediatric Clinicϻ
either by phone or to inform sisters
/PHN at health districts/clinics.
Take blood for FT4/TSHϼ
Ϻ Sister/PHN to recall babies.
ϻ Urgent referral and appointment to
pediatric clinic Blood to lab for Se FT4/TSH
ϼ Blood to be taken at Paediatric Clinic
Result sent to Paediatric Clinic
* For asphyxiated neonates, repeat
screening test should be done Further management by Paediatrician
ĂŌĞƌϯƌĚĚĂLJŽĨůŝĨĞǁŚĞŶ
hemodynamically stable

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 13
 Flow chart 3: Screening For Congenital Hypothyroidism at Hospital without T4/TSH Screening
&ĂĐŝůŝƟĞƐ

Cord blood sample collected at birth in labour room¹

Sent to designated hospital/MKA screening lab for TSH

Missed
Normal² Borderline²,³ High TSH²,³
cases
(< 20mU/L) (20-60mU/L) (> 60mU/L)

FT4 analysis
(on cord blood sample)

FT4 Normal FT4 Low³

(> 15pmol/l) ;ч 15pmol/l)

Babies not discharged Babies discharged

Recall babies urgently

- By phone
- Through nearest
ŚĞĂůƚŚĐůŝŶŝĐͬŽĸĐĞϺ
¹ ůŽŽĚƚĂŬĞŶďLJƐƚĂīǁŚŽĐŽŶĚƵĐƚƐƚŚĞ
ĚĞůŝǀĞƌLJ͘/ŶǀĞƐƟŐĂƟŽŶĨŽƌŵĨŽƌƐĐƌĞĞŶŝŶŐ
ŽĨd^,ƚŽďĞĮůůĞĚďLJĂƩĞŶĚŝŶŐƐƚĂī
Refer baby to Pediatric Clinicϻ
² Result sent to paediatric clinic &
ĐŽŵƉŝůĞĚďLJƐƚĂīŝŶĐŚĂƌŐĞ͘
³ >ĂďƚŽŝŶĨŽƌŵƌĞůĞǀĂŶƚŽĸĐĞƌͬƐƚĂīĂƚ Take blood for FT4/TSH6
WĞĚŝĂƚƌŝĐůŝŶŝĐͬĚĞƐŝŐŶĂƚĞĚƐƚĂīƚŽƌĞĐĂůů
cases or to inform sisters/PHN at health ZĞƐƵůƚƚŽWĂĞĚŝĂƚƌŝĐůŝŶŝĐͬĚĞƐŝŐŶĂƚĞĚƐƚĂī
districts/clinics.
Ϻ Sister/PHN to recall babies. Further management by Paediatrician
ϻ Urgent referral and appointment to
pediatric clinic
ϼ Blood to be taken at Pediatric Clinic

* For asphyxiated neonates, repeat

ƐĐƌĞĞŶŝŶŐƚĞƐƚƐŚŽƵůĚďĞĚŽŶĞĂŌĞƌϯǤǖ
day of life when hemodynamically stable

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 14
 Flow chart 4: Screening For Congenital Hypothyroidism for Home/Health clinic/ Low Risk
Birthing Centre Delivery

Cord blood sample collected at birth¹

Sent to lab hospital/health clinic

Spin and separate sample/storage

Sent to designated hospital/MKA screening lab for TSH

Missed
Normal² Borderline² ³
,
High TSH² ³,
cases
(< 20mU/L) (20-60mU/L) (> 60mU/L)

FT4 analysis
(on cord blood sample)

FT4 Normal FT4 Low²

(> 15pmol/l) ;ч 15pmol/l)

/ŶĨŽƌŵWĂĞĚŝĂƚƌŝĐĞƉĂƌƚŵĞŶƚ;ĚĞƐŝŐŶĂƚĞĚƐƚĂīͿ
be take
¹ůŽŽĚƚĂŬĞŶďLJƐƚĂīǁŚŽĐŽŶĚƵĐƚƐƚŚĞ
ĚĞůŝǀĞƌLJ͘/ŶǀĞƐƟŐĂƟŽŶĨŽƌŵĨŽƌ Recall babies urgentlyϺ
ƐĐƌĞĞŶŝŶŐŽĨd^,ƚŽďĞĮůůĞĚƵƉďLJ
ĂƩĞŶĚŝŶŐƐƚĂī Take blood for FT4/TSHϻ
² Lab to inform abnormal result to
Paediatric Department (designated
ƐƚĂīͿƚŽƌĞĐĂůůĐĂƐĞƐ Blood to lab for Se FT4/TSH (MKA/screening hospital lab)
³ All result to be sent to Paediatric
Clinic and compiled by designated
ƐƚĂī͘ /ŶĨŽƌŵĂďŶŽƌŵĂůƌĞƐƵůƚƐƚŽĚĞƐŝŐŶĂƚĞĚƐƚĂīĂŶĚWĂĞĚŝĂƚƌŝĐŝĂŶ²,³
ϺĞƐŝŐŶĂƚĞĚƐƚĂīƚŽŵĂŬĞ
arrangement to recall babies.
ϻ Blood to be taken at nearest
hospital/health clinic.

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 15
2.4 Level of Cord TSH and FT4

ŽƌĚd^,ůĞǀĞů͗
ŝ͘ NORMAL: < 20mIU/L or use 97.5Ǧǚ ƉĞƌĐĞŶƟůĞ ǀĂůƵĞ ĂƐ ĚĞƚĞƌŵŝŶĞ ďLJ ƚŚĞ ůŽĐĂů
ůĂďŽƌĂƚŽƌLJŽƌůĂďŽƌĂƚŽƌLJƚŚĂƚƵƐĞĚƚŚĞƐĂŵĞĂŶĂůLJƐĞƌ͗
ŝŝ͘ BORDERLINE: 20- 60 mIU/L
ŝŝŝ͘ HIGH: > 60 mIU/L

ŽƌĚ&dϰůĞǀĞů͗
ŝ͘ NORMAL : хϭϱƉŵŽůͬů
ŝŝ͘ LOW: фϭϱƉŵŽůͬů

Ϯ͘ϱZĞƚĞƐƟŶŐŽĨWĂƟĞŶƚƐ;ŽŶĮƌŵĂƟŽŶͿĂŶĚŵĂŶĂŐĞŵĞŶƚ

ůŽŽĚƐĂŵƉůĞƐĨŽƌĐŽŶĮƌŵĂƟŽŶ;ƌĞͲƚĞƐƟŶŐͿƐŚŽƵůĚďĞvenous samplesĂŶĚƐŚŽƵůĚďĞ
ƚĂŬĞŶĨƌŽŵƚŚĞďĂďLJĂŌĞƌƚŚĞϯǤǖ day of life͘dŚŝƐŝƐƚŽĂǀŽŝĚƚŚĞd^,ƐƵƌŐĞƚŚĂƚŽĐĐƵƌƐ
ĨƌŽŵЪŚŽƵƌĂŌĞƌďŝƌƚŚƚŽϳϮŚŽƵƌƐŽĨĂŐĞ͘

ĂďŝĞƐĨŽƌƌĞƚĞƐƟŶŐĂƌĞƚŚŽƐĞǁŝƚŚŚŝŐŚd^,;хϲϬŵ/hͬ>ͿŽƌborderline TSH;ϮϬͲϲϬŵ/hͬ>Ϳ
ǁŝƚŚůŽǁ&dϰ;фϭϱƉŵŽůͬůͿ͘

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵ2018 16
3. MANAGEMENT OF CONGENITAL HYPOTHYROIDISM

3.1 Management Principles for Congenital Hypothyroidism

,ŽƌŵŽŶĂůƚŚĞƌĂƉLJŝƐĂǀĂŝůĂďůĞĨŽƌĐŽŶŐĞŶŝƚĂůŚLJƉŽƚŚLJƌŽŝĚŝƐŵ͘ǀĞƌLJĞīŽƌƚŶĞĞĚƐƚŽďĞƚĂŬĞŶƚŽ
ĐŽŶĮƌŵ ƚŚĞ ĚŝĂŐŶŽƐŝƐ ĂƐ ƐŽŽŶ ĂƐ ƉŽƐƐŝďůĞ ĂŶĚ ƚŽ ŝŶŝƟĂƚĞ ƚƌĞĂƚŵĞŶƚ͘ tŝƚŚ ƚŚĞ cord blood
screening programme most neonates with severe congenital hypothyroidism can be treated
ǁŝƚŚŝŶƚŚĞĮƌƐƚϭϰĚĂLJƐŽĨůŝĨĞ͘

dŚĞŐŽĂůŽĨƚŚĞƌĂƉLJŝƐƚŽƌĞƐƚŽƌĞĞƵƚŚLJƌŽŝĚƐƚĂƚĞďLJŵĂŝŶƚĂŝŶŝŶŐĂƐĞƌƵŵ&dϰůĞǀĞůĂƚƚŚĞƵƉƉĞƌ
half of the normal age-related reference range. Ideally serum TSH levels should be between
Ϭ͘ϱͲϮ͘Ϭŵ/hͬ>ĂŌĞƌƚŚĞĮƌƐƚŵŽŶƚŚŽĨůŝĨĞ͘

^ƵďƐĞƋƵĞŶƚ ƌĞǀŝĞǁ ŝƐ Ăƚ ϰͲϲ ǁĞĞŬůLJ ŝŶƚĞƌǀĂůƐ ĚƵƌŝŶŐ ƚŚĞ ĮƌƐƚ ϲ ŵŽŶƚŚƐ ĂŶĚ Ăƚ ϮͲϯ ŵŽŶƚŚůLJ
ŝŶƚĞƌǀĂůĚƵƌŝŶŐƚŚĞϲͲϭϴƚŚŵŽŶƚŚƉĞƌŝŽĚƚŽŵĂŝŶƚĂŝŶƐĞƌƵŵ&dϰůĞǀĞůƐŝŶƚŚĞŶŽƌŵĂůƌĂŶŐĞĨŽƌ
ĂŐĞ͘ dƌĞĂƚŵĞŶƚ ŝƐ ŵŽŶŝƚŽƌĞĚ ďLJ ŵĞĂƐƵƌŝŶŐ &dϰ͕ d^,͕ ďŽŶĞ ĂŐĞ͕ ŐƌŽǁƚŚ ƉĂƌĂŵĞƚĞƌƐ ĂŶĚ
psychomotor development. Parents need to be counseled that poor compliance in the infancy
ŵĂLJĐĂŶĐĞůƚŚĞďĞŶĞĮƚƐŽĨƐĐƌĞĞŶŝŶŐ͘

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 17
&ŽůůŽǁͲƵƉĂŶĚdŚLJƌŽŝĚ&ƵŶĐƟŽŶdĞƐƚƐ
^ƵŐŐĞƐƚĞĚƟŵĞŝŶƚĞƌǀĂůĨŽƌĨŽůůŽǁͲƵƉĂŶĚƚŚLJƌŽŝĚĨƵŶĐƟŽŶƚĞƐƚŝƐĂƐŝŶdĂďůĞϰ͘

dĂďůĞϰ͗dŝŵĞŝŶƚĞƌǀĂůĨŽƌĨŽůůŽǁͲƵƉĂŶĚƚŚLJƌŽŝĚĨƵŶĐƟŽŶƚĞƐƚ

ŐĞŽĨƉĂƟĞŶƚ /ŶƚĞƌǀĂůƐĨŽƌdŚLJƌŽŝĚ&ƵŶĐƟŽŶdĞƐƚ

ŌĞƌŝŶŝƟĂƟŽŶŽĨ>ͲƚŚLJƌŽdžŝŶĞ ϭͲϮǁĞĞŬƐ;ƵŶƟůŶŽƌŵĂůŝnjĂƟŽŶŽĨƌĞƐƵůƚƐͿ

ϭͲϲŵŽŶƚŚƐ ϭͲϮŵŽŶƚŚůLJ

ϲŵŽŶƚŚƐʹϯLJĞĂƌƐ ϯͲϰŵŽŶƚŚůLJ

хϯLJĞĂƌƐƵŶƟůŐƌŽǁƚŚŝƐĐŽŵƉůĞƚĞ ϲͲϭϮŵŽŶƚŚůLJ

^ŚŽƵůĚďĞŵŽƌĞĨƌĞƋƵĞŶƚŝĨĐŽŵƉůŝĂŶĐĞŝƐƋƵĞƐƟŽŶĂďůĞŽƌĂďŶŽƌŵĂůd&dǀĂůƵĞƐ
ĂƌĞŽďƚĂŝŶĞĚ͕ĂŶĚϰͲϲǁĞĞŬƐĂŌĞƌĂŶLJĐŚĂŶŐĞŝŶ>ͲƚŚLJƌŽdžŝŶĞĚŽƐĞͬĨŽƌŵƵůĂƟŽŶ

&ŽůůŽǁͲƵƉƐƐĞƐƐŵĞŶƚ
ͻ'ƌŽǁƚŚ
ͻĞǀĞůŽƉŵĞŶƚ
ͻDĞŶƚĂůĂŶĚĐŽŐŶŝƟǀĞĨƵŶĐƟŽŶ
ͻ^LJŵƉƚŽŵƐŽĨŽǀĞƌĂŶĚƵŶĚĞƌƚƌĞĂƚŵĞŶƚ
ͻ,ĞĂƌŝŶŐƚĞƐƚ
ͻŽŶĞĂŐĞͲŶŽƌŵĂůŝnjĂƟŽŶďLJϭͲϮLJĞĂƌƐ

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 18
4. MONITORING AND EVALUATION OF THE NATIONAL CONGENITAL
HYPOTHYROIDISM SCREENING PROGRAMME

It would be useful to have a computerised register of all neonates screened but this may not
be possible in all centres. The simplest way to keep data for monitoring of the programme is
for the Paediatrician in charge to keep a copy of ALL the screening forms (i.e. for normal
children and those found to have abnormal TSH results)

The data listed below is use for monitoring of the programme:

1. Number of birth registered by month (from the labour room book)
2. Number of cases screened by month
3. Outcome of screening sample results by month (TSH high, borderline and low)
4. EƵŵďĞƌŽĨĐŚŝůĚƌĞŶƌĞĐĂůůĞĚĨŽƌƚĞƐƟŶŐďLJŵŽŶƚŚ;d^,ŚŝŐŚĂŶĚd^,ďŽƌĚĞƌůŝŶĞ
with low FT4)
5. EƵŵďĞƌŽĨĐĂƐĞƐĐŽŶĮƌŵĞĚĂƐĐŽŶŐĞŶŝƚĂůŚLJƉŽƚŚLJƌŽŝĚŝƐŵ
6. EƵŵďĞƌŽĨĐŽŶĮƌŵĞĚĐĂƐĞƐƚƌĞĂƚĞĚǁŝƚŚŝŶϭϰĚĂLJƐŽĨůŝĨĞ

sĂƌŝŽƵƐYŝŶĚŝĐĂƚŽƌƐǁĞƌĞŵĂĚĞƚŽĞŶƐƵƌĞƚŚĞƋƵĂůŝƚLJŽĨEĂƟŽŶĂůŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵ
Screening Programme, refer Table 5.

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 19
dĂďůĞϱ͗Y/ŶĚŝĐĂƚŽƌƐĨŽƌEĂƟŽŶĂůŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵ^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞ

MonitorinŐ Data QA oŵŵents

Indicator
1. overaŐe of screeninŐ ƉroŐraŵŵe
= No. of newborn screened (including BBA) per month x 100 >99% for
No. of live births + BBA per months hospital ReŇect
process in
labour room
2. ^creeninŐ ^aŵƉle rejecƟon rate
= No. of rejected sample x100 < 1%
Total no. of screened sample received

3. WercentaŐe of ƉaƟents witŚ abnorŵal results retested.

= No. of paƟents with abnormal results retested x 100
Total number recalled back
ReŇects
100% process in
** PaƟent with abnormal results = High TSH + Borderline Paeds.
TSH with low FT4

4. ƵƌĂƟŽŶĨƌŽŵďŝƌƚŚƚŽƚƌĞĂƚŵĞŶƚŽĨĐŽŶĮƌŵĞĚĐĂƐĞƐ 100%
фϭϰĚĂLJƐ
Birth
5. Total turn around Ɵŵe (for lab)
ŽůůĞĐƟŽŶ
Time from collecƟon of sample to despatch of result to
Paediatric Department should be <2 working days (to be Despatch to
monitored 6 monthly) Lab
>90%
Received at
lab

Analysis

Despatch to
paeds
6. External QualitLJ Assurance WroŐraŵŵe All
^creeninŐ
lab
7. Internal Q All
Long term QC monitoring to report CV of IQc ^creeninŐ
Involving 1 year QC data/QC data of the same lot number and lab
calculaƟon of total error and MU

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 20
dĂďůĞϲ͗ĂƚĂĐŽůůĞĐƟŽŶĂƚĞĂĐŚƐĐƌĞĞŶŝŶŐĐĞŶƚĞƌ;,ŽƐƉŝƚĂůͬ<<ͬ>ZͿ

Yeaƌ : ____________
J F M A M J J A S O N D Total
MoŶtŚ : ____________

a No. of live births at

hospital/KK

b No. live birth as BBA

c No. samples screened

d No. samples rejected

e No. of normal TSH

f No. samples with high TSH

g No. samples with borderline

TSH

h No. samples with borderline

TSH and low FT4

i No. needing retesƟng (f+h)

j No. retested

k Actual recall rate ; (j/c)x 100

l No. of conĮrmed cases

m No. of conĮrmed cases

treated < 14 days

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 21
 Variables
a. No. of live births at hospital/KK
b. No. live birth as BBA No. of live births born before arrival to the hospital/clinic
c. No. samples screened No. of cord blood samples screened

d. No. samples rejected Cord blood samples unable to be processed by lab (analyser)
*example: sample hemolysed/mucoid/inadequate/wrong
lable/wrong container
e. No. normal TSH No. of cord blood samples with TSH < 20 mIU/L

f. No. samples with high TSH No. of cord blood samples with TSH > 60 mIU/L
g. No. samples with borderline TSH No. of cord blood samples with borderline TSH 20 - 60 mIU/L
h. No. samples with borderline TSH No. of cord blood samples with borderline TSH 20 - 60 mIU/L
and low FT4 and low FT4 < 15pmol/L (on same cord blood sample)

i. No. of cord blood samples with abnormal results which

low FT4 < 15pmol/L)

j. No. retested No. of cord blood samples with abnormal results

(TSH > 60mIU/L or borderline TSH and low FT4 < 15pmol/L)
which were retested

k. Actual recall rate ; (j/c)x 100

l. No. of confirmed cases No. of cases confirmed to have Congenital Hypothyroidism
m. No. of confirmed cases treated No. of confirmed congenital hypothyroidism who received
< 14 days treatment within 14 days of life

Hypothyroidism 2018 22
dĂďůĞϴ͗ĂƚĂĐŽůůĞĐƟŽŶĂƚƐƚĂƚĞůĞǀĞůĂŶĚŶĂƟŽŶĂůůĞǀĞů

JAN FEB MAR APR MAY JUN JUL AUG SEP OCT NOV DEC Total
No. liǀe birtƐ at
a
hoƐpital/KK
(KKM)
(priǀate&uŶiǀerƐity)

b No. liǀe birth aƐ BBA

(KKM)
(priǀate&uŶiǀerƐity)
Total Ŷo. of liǀe birth
c
(a+b)
(KKM)
(priǀate&uŶiǀerƐity)
Ě No. ƐampleƐ ƐcreeŶeĚ
(KKM)
(priǀate&uŶiǀerƐity)
e % ƐampleƐ ƐcreeŶeĚ
(KKM)
(priǀate&uŶiǀerƐity)
f No. rejecteĚ ƐampleƐ
(KKM)
(priǀate&uŶiǀerƐity)
g No. Ŷormal TSH
(KKM)
(priǀate&uŶiǀerƐity)
No. ƐampleƐ with
h
high TSH (>60mlU/L)
(KKM)
(priǀate&uŶiǀerƐity)
No. ƐampleƐ with
i borĚerliŶe TSH (21-
60mlU/L)
(KKM)
(priǀate&uŶiǀerƐity)
No. ƐampleƐ with
borĚerliŶe TSH (21-
j
60mlU/l) aŶĚ low FT4
(< 15pmol/L)
(KKM)
(priǀate&uŶiǀerƐity)
Total Ŷo of reƐult
k
collecteĚ
(KKM)
(priǀate&uŶiǀerƐity)

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 23
 JAN FEB MAR APR MAY JUN JUL AUG SEP OCT NOV DEC Total
l Missing results
(KKM)
(private&university)
no. of needing
m
ƌĞƚĞƐƟŶŐ;ŚнũͿ
(KKM)
(private&university)
Actual recall rate -
n
(m/e)x 100
(KKM)
(private&university)
o No. retested
(KKM)
(private&university)
EŽ͘ŽĨĐŽŶĮƌŵĞĚ
p
cases
(KKM)
(private&university)
EŽŽĨĐŽŶĮƌŵĞĚ
q cases treated < 14
days
(KKM)
(private&university)
% treated < 14 days
r
of life
(KKM)
(private&university)

EŽ͘ŽĨŚŽƐƉŝƚĂůǁŝƚŚ
s lab facility (analyser) 0 0 0 0 0 0 0 0 0
for cord TSH
(KKM)
(private&university)

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 24
(KKM) For KKM hospital/clinics/ABC

For PRIVATE and UNIVERSITY hospital/maternity

(private&university)
centres/clinics

Variables:
No. live birts at
a No. of live births in par cip ng hospital/clinics
hospital/KK
b No. live birth as BBA No. of live births born before arrival to the hospital/clinic
Total no. of live birth Total no. of live births in the p p ng hospital/clinic
c
(a+b) (AUTOCALCULATED)
No. samples
d No. of cord blood samples screened
screened (total)
no. of samples screened/total no. of live birth in the p p ng hospital
e % samples screened
x 100% (d/c x 100) (AUTOCALCULATED)
f No. rejected samples Cord blood samples unable to be processed by lab (analyser)
*example: sample hemolysed/mucoid/inadequate/wrong lable/wrong
container

g No. normal TSH No. of cord blood samples with TSH < 20 mIU/L

No. samples with

h No. of cord blood samples with TSH > 60 mIU/L
high TSH
No. samples with
i No. of cord blood samples with borderline TSH 20 - 60 mIU/L
borderline TSH
No. samples with
No. of cord blood samples with borderline TSH 20 - 60 mIU/L and low FT4
j borderline TSH and
< 15pmol/L (on same cord blood sample)
low FT4
Total no of result
k g+h+i (AUTOCALCULATED)
collected
l Missing results (d-k) (AUTOCALCULATED)
No. of sample with abnormal result which needed rete g
No. of needing
m (sample with TSH > 60mlU/L + samples with low FT4 <15pmol/L)
(AUTOCALCULATED)
No. Retested No. of cord blood samples with abnormal results (TSH > 60mIU/L or
n
borderline TSH AND low FT4 < 15pmol/
hours of life

o Actual recall rate - No. of needing rete g (abnormal result) / total no. of cord blood
(n/d) x 100 screened x 100%

p No. of confirmed No. of cases with confirm diagnosis of Congenital Hypothyroidism

cases

Hypothyroidism 2018 25
 Variables: ĞĮŶŝƟŽŶ
EŽŽĨĐŽŶĮƌŵĞĚ EŽŽĨĐŽŶĮƌŵĞĚĐŽŶŐĞŶŝƚĞůŚLJƉŽƚŚLJƌŽŝĚŝƐŵǁŚŽƌĞĐĞŝǀĞĚƚƌĞĂƚŵĞŶƚǁŝƚŚŝŶ
q cases treated < 14 ϭϰĚĂLJƐŽĨůŝĨĞ
days
No. hospital & klinik
involved in blood EŽ͘ŽĨŚŽƐƉŝƚĂůƉĂƌƟĐŝƉĂƚĞŝŶƚŚĞƐĐƌĞĞŶŝŶŐƉƌŽŐƌĂŵ;ĐŽůůĞĐƚƐd^,ƐĂŵƉůĞƐ
r
sampling and return ĂŶĚƐƵďŵŝƚƌĞƚƵƌŶƐͿ
ĐŽůůĞĐƟŽŶ
No. of hospital with
s lab facility (analyser) EŽ͘ŽĨŚŽƐƉŝƚĂůƐǁŝƚŚůĂďĨĂĐŝůŝƟĞƐ;ĂŶĂůLJƐĞƌĨŽƌd^,Ϳ
for cord TSH

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 26
 dĂďůĞϭϬ͗ĂƚĂĐŽůůĞĐƟŽŶĨŽƌĐŽŵĮƌŵĞĚĐĂƐĞďLJƐƚĂƚĞƐ

ŽŶĮƌŵĞĚĐĂƐĞƌĞƉŽƌƚ

STATE : YEAR:
MONTH:
Date of 1ǥǦ Date of repeat
ƵƌĂƟŽŶ
sample / result sample/ result Date
Date of from birth
No. Name Hospital RN DOB Date of Date Date of Date started Remarks
diagnosis to
sample of sample of treatment
treatment
taken result taken result
1
2
3
4
5
6
7
8
9
10

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ
27
&ůŽǁĐŚĂƌƚϲ͗DŽŶƚŚůLJƌĞƚĞŶŇŽǁĨƌŽŵ,ŽƐƉŝƚĂů

Cord blood sample collected at birth in hospital

Sample sent to hospital lab

Yes No
Result normal?

Hardcopy result Inform result

send to program immediately to
coordinator in program coordinator
peads clinic in peads department.
Hardcopy result send
to paeds clinic

Result sent to
ĚŝƐƚƌŝĐƚŚĞĂůƚŚŽĸĐĞ
;W<Ϳ

Inform result to Recall babies for

ŝƐƚƌŝďƵƟŽŶŽĨƌĞƐƵůƚ ƌĞƐƉĞĐƟǀĞ<< ƌĞƚĞƐƟŶŐ
ƚŽƌĞƐƉĞĐƟǀĞ<<

Results recorded in child’s

ZĞƚĞƐƟŶŐƌĞƐƵůƚƐ
ŚĞĂůƚŚĐĂƌĚĂŶĚƵŬƵĂŌĂƌ
</ϭϬϭWŝŶĚĂĂŶϮͬϮϬϬϳ

Monthly reten send to

W<

Monthly reten send to

ZĞƚĞŶĚĂƚĂĨƌŽŵƉƌŝǀĂƚĞ
:<EďĞĨŽƌĞϭϬth ŽĨĞǀĞƌLJ
sector
month

Monthly reten send to

W<<ďĞĨŽƌĞϭϱth of
ĞǀĞƌLJŵŽŶƚŚ

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 28
&ůŽǁĐŚĂƌƚϳ͗DŽŶƚŚůLJƌĞƚĞŶŇŽǁĨƌŽŵ,ĞĂůƚŚĐůŝŶŝĐͬůƚĞƌŶĂƟǀĞŝƌƚŚŝŶŐĞŶƚƌĞĞůŝǀĞƌLJ

Cord blood sample collected at birth in KK/ABC

Sample sent to hospital lab /MKA

Yes
Results No
normal?

Hardcopy of the result Inform result immediately to

send to programme program coordinator in KK.
coordinator in KK Hardcopy result send to KK.

Recall babies and

refer to Paediatrician

Results recorded in child’s

ŚĞĂůƚŚĐĂƌĚĂŶĚƵŬƵĂŌĂƌ
KIB 101 Pindaan 2/2007 ZĞƚĞƐƟŶŐƌĞƐƵůƚƐ

Monthly reten send to

PKD

Monthly reten send to

Reten data from private
JKN before 10 th of every
sector
month

Monthly reten send to

BPKK before 15th of
every month

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 29
5. RESPONSIBILITIES OF DEPARTMENTS INVOLVED

ĚŵŝŶŝƐƚƌĂƟǀĞĞƉĂƌƚŵĞŶƚ
ϭ͘WƌŝŶƟŶŐŽĨŝŶǀĞƐƟŐĂƟŽŶĨŽƌŵ

KďƐƚĞƚƌŝĐĞƉĂƌƚŵĞŶƚͬ>ĂďŽƵƌZŽŽŵ
1. dŽĂƐƐŝŐŶƐƚĂīƌĞƐƉŽŶƐŝďůĞĨŽƌĐŽŽƌĚŝŶĂƟŽŶŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵ^ĐƌĞĞŶŝŶŐ
2. dŽŝŶĚĞŶƚŝŶǀĞƐƟŐĂƟŽŶĨŽƌŵĂŶĚƚĞƐƚƚƵďĞƐ
3. ŽůůĞĐƟŽŶŽĨƐƉĞĐŝŵĞŶ
4. &ŝůůƵƉŝŶǀĞƐƟŐĂƟŽŶĨŽƌŵ
5. ŝƐƉĂƚĐŚŽĨƐƉĞĐŝŵĞŶƚŽƚŚĞůĂďŽƌĂƚŽƌLJ
6. ZĞĐŽƌĚŶƵŵďĞƌŽĨƐƉĞĐŝŵĞŶƚĂŬĞŶͬŶŽƚƚĂŬĞŶ;ǁŝƚŚƌĞĂƐŽŶͿ
7. ĐĂƐĞƐʹĞdžƉůĂŝŶƚŽŵŽƚŚĞƌƐƌĞŐĂƌĚŝŶŐƚŚĞƐĐƌĞĞŶŝŶŐ͕ĮůůƵƉƚŚĞŝŶǀĞƐƟŐĂƟŽŶĨŽƌŵ
ĂŶĚƚŽŐĞƚĂƉƉŽŝŶƚŵĞŶƚĨŽƌŵŽƚŚĞƌƐƚŽƚĂŬĞƚŚĞďĂďLJƚŽƉĂĞĚŝĂƚƌŝĐĐůŝŶŝĐ
8. ŶƚĞŶĂƚĂůĞĚƵĐĂƟŽŶ

WĂƚŚŽůŽŐLJĞƉĂƌƚŵĞŶƚ
1. WƵĐŚĂƐŝŶŐŽĨƌĞĂŐĞŶƚƐĂŶĚĐŽŵƐƵŵĂďůĞƐ
2. ZĞĐĞŝǀŝŶŐƐƉĞĐŝŵĞŶĂŶĚŬĞĞƉƌĞĐŽƌĚƐ
3. WĞƌĨŽƌŵůĂďŽƌĂƚŽƌLJŝŶǀĞƐƟŐĂƟŽŶͬƉƌŽĐĞĚƵƌĞ
4. /ŶĨŽƌŵĐĂƐĞƐƚŚĂƚŶĞĞĚƚŽďĞƌĞĐĂůůĞĚ;ŚŝŐŚͬďŽƌĚĞƌůŝŶĞd^,ǁŝƚŚůŽǁ&dϰĂŶĚƌĞũĞĐƚĞĚ
ƐĂŵƉůĞƐͿƚŽƉĂĞĚŝĂƚƌŝĐĐůŝŶŝĐͬĚĞƐŝŐŶĂƚĞĚƐƚĂī
5. ŝƐƉĂƚĐŚĂůůƌĞƐƵůƚƐƚŽWĞĂĚŝĂƚƌŝĐůŝŶŝĐͬĚĞƐŝŐŶĂƚĞĚƐƚĂī
6. dŽƉĂƌƟĐŝƉĂƚĞŝŶdžƚĞƌŶĂůYƵĂůŝƚLJƐƐƵƌĂŶĐĞWƌŽŐƌĂŵŵĞ

WĂĞĚŝĂƚƌŝĐĞƉĂƌƚŵĞŶƚ
1. ŽŽƌĚŝŶĂƟŽŶŽĨƚŚĞƐĐƌĞĞŶŝŶŐƉƌŽŐƌĂŵŵĞ
2. ŽůůĞĐƟŽŶŽĨĂůůƌĞƐƵůƚƐ
3. ZĞĐĂůůŽĨĐĂƐĞƐĨŽƌŚŝŐŚͬďŽƌĚĞƌůŝŶĞd^,ǁŝƚŚůŽǁ&dϰĂŶĚƌĞũĞĐƚĞĚƐĂŵƉůĞƐ
4. &ƵƌƚŚĞƌŵĂŶĂŐĞŵĞŶƚŽĨĐĂƐĞƐ
5. ,ĂŶĚůĞĐĂƐĞƐ;ůŝĂŝƐĞǁŝƚŚƉŽƐƚͲŶĂƚĂůǁĂƌĚͿ
6. DŽŶŝƚŽƌŝŶŐĂŶĚĞǀĂůƵĂƟŶŐŽĨƚŚĞƉƌŽŐƌĂŵŵĞǁŝƚŚYŝŶĚŝĐĂƚŽƌƐ
7. ŶŶƵĂůƌĞƚƵƌŶŽĨƚŚĞƉƌŽŐƌĂŵŵĞƚŽ^ƚĂƚĞ,ĞĂůƚŚĞƉĂƌƚŵĞŶƚ;ǀŝĂ^ƚĂƚĞWĂĞĚŝĂƚƌŝĐŝĂŶͿ

^ƚĂƚĞ,ĞĂůƚŚĞƉĂƌƚŵĞŶƚ
1. dŽƐĞƚƵƉŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵĐŽŵŵŝƩĞĞĂƚƐƚĂƚĞůĞǀĞů
2. ƐƐŝƐƚŝŶƌĞĐĂůůŝŶŐďĂďŝĞƐĂŶĚĨŽůůŽǁƵƉ
3. dŽĞƐƚĂďůŝƐŚŵĞĐŚĂŶŝƐŵĨŽƌĚŽĐƵŵĞŶƟŶŐƌĞƐƵůƚƐŝŶŚŝůĚ,ĞĂůƚŚ,ŽŵĞͲďĂƐĞĚĂƌĚ
4. DŽŶŝƚŽƌŝŶŐĂŶĚĞǀĂůƵĂƟŽŶŽĨƚŚĞŽǀĞƌĂůůƉƌŽŐƌĂŵŵĞ
5. ƵĚŐĞƚ
6. WůĂŶŶŝŶŐ
7. dŽĮŶĂůŝnjĞĚƌĞƚƵƌŶĂŶĚƐƵďŵŝƚƚŽ&ĂŵŝůLJ,ĞĂůƚŚĞǀĞůŽƉŵĞŶƚŝǀŝƐŝŽŶ͕DK,
8. ZĞƐƉŽŶƐŝďůĞĨŽƌƉƵďůŝĐŚĞĂůƚŚĞĚƵĐĂƟŽŶ
9. ZĞƐƉŽŶƐŝďůĞĨŽƌƚƌĂŝŶŝŶŐĨŽƌƐĐƌĞĞŶŝŶŐƉƌŽŐƌĂŵŵĞ;ĞŐ͗ďůŽŽĚĐŽůůĞĐƟŽŶͿ

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 30
APPENDIX

Appendix 1
ůŽŽĚ ĨŽƌ d^, ;dŚLJƌŽŝĚ ^ƟŵƵůĂƟŶŐ ,ŽƌŵŽŶĞͿ ĞǀĂůƵĂƟŽŶ ƐŚŽƵůĚ ďĞ ĐŽůůĞĐƚĞĚ ŝŵŵĞĚŝĂƚĞůLJ
ĂŌĞƌďŝƌƚŚĨƌŽŵƚŚĞŵĂƚĞƌŶĂůƐŝĚĞŽĨƚŚĞĐŽƌĚ͘&ƌŽŵƐƚƵĚŝĞƐĚŽŶĞŝŶ^ŝŶŐĂƉŽƌĞĂŶĚ&ŝŶůĂŶĚ͕ŝƚ
ŝƐŶŽƚĞĚƚŚĂƚƚŚĞƌĞŝƐĂƌĂƉŝĚĂĚŵŝdžƚƵƌĞŽĨŵĂƚĞƌŶĂůďůŽŽĚĂŶĚĨŽĞƚĂůďůŽŽĚŝŶƚŚĞƉůĂĐĞŶƚĂ
ŝŵŵĞĚŝĂƚĞůLJĂŌĞƌďŝƌƚŚƐ͘dŚŝƐŵĞĂŶƐƚŚĂƚƚŚĞd^,ĨƌŽŵĐŽƌĚďůŽŽĚĐĂŶďĞĕŽŶƚĂŵŝŶĂƚĞĚďLJ
ŵĂƚĞƌŶĂůd^,ůĞǀĞůƐ͘dŽŽǀĞƌĐŽŵĞƚŚŝƐƉƌŽďůĞŵ͕ǁĞǁŽƵůĚůŝŬĞĐŽƌĚďůŽŽĚƚŽďĞĐŽůůĞĐƚĞĚĨŽƌ
d^,ŝŶƚŚĞŵĂŵŵĞƌĚĞƐĐƌŝďĞĚďĞůŽǁ͗

Please note:
ϭ͘ &ŽƌǀĂŐŝŶĂůĚĞůŝǀĞƌŝĞƐ͕ƚŚĞϮǠǖŵĞƚĂůĐůĂŵƉŝƐĂƉƉůŝĞĚƚŽƚŚĞƵŵďŝůŝĐĂůĐŽƌĚĂƐĐůŽƐĞƚŽƚŚĞ
ǀƵůǀĂĂƐƉŽƐƐŝďůĞ͘KŶůLJďůŽŽĚďĞƚǁĞĞŶƚŚĞϭǥǦĂŶĚϮǠǖŵĞƚĂůŝƐƚŽďĞĐŽůůĞĐƚĞĚĨŽƌd^,͘ǀĞŶ
ŝĨ ƚŚĞ ǀŽůƵŵĞ ŽĨ ďůŽŽĚ ŝƐ ƐŵĂůů ;ŝĞ͘ фϭϬŵůƐͿ͕ ĚŽ ŶŽƚ ƚĞŵƉƚĞĚ ƚŽ ƌĞůĞĂƐĞ ƚŚĞ ϮǠǖ ŵĞƚĂů
ĐůĂŵƉ͘

Ϯ͘ &Žƌ>^^ĚĞůŝǀĞƌŝĞƐ;ǁŚĞƌĞƚŚĞƉůĂƐƟĐĐůĂŵƉŝƐŶŽƚƵƐĞĚͿ͕ƉůĞĂƐĞĂƉƉůLJĂϯǤǖŵĞƚĂůĐůĂŵƉŽƌ
ĂƌƚĞƌLJĨŽƌĐĞƉƐƚŽƚŚĞƵŵďŝůŝĐĂůĐŽƌĚũƵƐƚďĞĨŽƌĞƚŚĞƉůĂĐĞŶƚĂ͘ŽůůĞĐƚďůŽŽĚĨŽƌd^,ĨƌŽŵƚŚĞ
ƐĞŐŵĞŶƚŽĨĐŽƌĚďĞƚǁĞĞŶϮǠǖĂŶĚϯǤǖŵĞƚĂůĐůĂŵƉƐ͘ǀĞŶŝĨƚŚĞǀŽůƵŵĞŽĨďůŽŽĚŝƐƐŵĂůů;ŝĞ͘
фϭϬŵůƐͿ͕ĚŽŶŽƚƚĞŵƉƚĞĚƚŽƌĞůĞĂƐĞƚŚĞϯǤǖŵĞƚĂůĐůĂŵƉ͘

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 31
Appendix 2

Ref No.

CONGENITAL HYPOTHYROIDISM CORD BLOOD SCREENING TEST

HOSPITAL

/ƚĞŵƐϭͲϴĂƌĞƚŽďĞĮůůĞĚŝŶďLJůĂďŽƵƌƌŽŽŵƐƚĂī
1. Mother's IC number: 2. RN:
3. Mother's name:
4. Home Address:
a) Permanent address ďͿƵƌŝŶŐĐŽŶĮŶĞŵĞŶƚƉĞƌŝŽĚͬŵĂƚĞƌŶŝƚLJůĞĂǀĞ

5. Home Telephone No: Hand phone No :

6. Place of birth: 7. DOB: Time:
8. Date sample taken:
/ƚĞŵƐϵͲϭϬĂƌĞƚŽďĞĮůůĞĚŝŶďLJůĂďŽƌĂƚŽƌLJƐƚĂī͗
ϵ͘ĂƚĞƐĂŵƉůĞƌĞĐĞŝǀĞĚ͗
ϭϬ͘ZĞƐƵůƚ͗ ĂͿd^,;ŵ/hͬůͿ͗ďͿ&dϰ;ƉŵŽůͬ>Ϳ

ŽůůĞĐƟŽŶŽĨďůŽŽĚƐĂŵƉůĞƐĨŽƌd^,ŝŶŚŽƐƉŝƚĂů &ůŽǁŽĨ/ŶǀĞƐƟŐĂƟŽŶƐ
i) /ŵŵĞĚŝĂƚĞůLJĂŌĞƌĚĞůŝǀĞƌLJ͕ĐůĞĂŶƚŚĞŵĂƚĞƌŶĂůƐŝĚĞŽĨ
the cord with a sterile gauze and collect the blood
sample.(Appendix 1)
ii) ůůŽǁĨƌĞĞŇŽǁŽĨďůŽŽĚĨƌŽŵƚŚĞĐŽƌĚĚŝƌĞĐƚůLJƚŽƚŚĞ
Cord blood sample collected at Birth
ƚƵďĞ ;ŝĨ LJŽƵ ŶĞĞĚ ƚŽ ͚ŵŝůŬ͕͛ ĚŽ ŝƚ ŐĞŶƚůLJ ƚŽ ƉƌĞǀĞŶƚ
ŚĞŵŽůLJƐŝƐͿ͘
iii) dŚĞƚƵďĞƐŚŽƵůĚďĞĮůůĞĚǁŝƚŚĂŵŝŶŝŵƵŵŽĨϯŵůŽĨ Screening for TSH
blood.
(Allow space for the cap to be pushed in)
ŝǀͿ >ĂďĞůƚŚĞƚƵďĞŝŵŵĞĚŝĂƚĞůLJ͘ŽŵƉůĞƚĞƚŚĞŝŶǀĞƐƟŐĂƟŽŶ
form.
ǀͿ ^ĞŶĚ ƚŚĞ ƐĂŵƉůĞ ƚŽ ƚŚĞ ůĂďŽƌĂƚŽƌLJ ǁŝƚŚ ƚŚĞ ĨŽƌŵ Ăƚ d^,фϮϭŵ/hͬů d^,ϮϭͲϲϬŵ/hͬů d^,хϲϬŵ/hͬů Missed
ƚŚĞŶŽƌŵĂůƌŽƵƟŶĞŝŶƚĞƌǀĂůƐǁŝƚŚŝŶϮϰŚŽƵƌƐ͘ (Normal) (Borderline) (High) Cases
ǀŝͿ ^ĞĞŇŽǁĐŚĂƌƚϭĨŽƌƚŚĞŚĂŶĚůŝŶŐŽĨďůŽŽĚƐĂŵƉůĞƐĂƚ
ƚŚĞůĂďŽƌĂƚŽƌLJ͘ Do FT4

DŝƐƐĞĚ͕/ŶƐƵĸĐŝĞŶƚ͕ůŽŽĚůŽƚ^ĂŵƉůĞƐΘŽƌŶĞĨŽƌĞ
ƌƌŝǀĂůĂƐĞƐ
i) If for some reason the blood sample has not been &dϰхϭϱƉŵŽůͬůΎ&dϰ;чϭϱƉŵŽůͬůͿΎ
taken from the cord then it should be taken from the
ďĂďLJĂƐƐŽŽŶĂƐƉŽƐƐŝďůĞĂŌĞƌƚŚĞƚŚŝƌĚĚĂLJŽĨůŝĨĞ͘dŚŝƐ
ŝƐƚŽĂǀŽŝĚƚŚĞd^,ƐƵƌŐĞƚŚĂƚŽĐĐƵƌƐĨƌŽŵЪŚŽƵƌĂŌĞƌ No recall
ďŝƌƚŚ ƚŽ ĂďŽƵƚ ϳϮ ŚŽƵƌƐ ŽĨ ĂŐĞ ĂŶĚ ƚŽ ĞŶƐƵƌĞ ĞĂƌůLJ
ƚƌĞĂƚŵĞŶƚďĞĨŽƌĞϮǁĞĞŬƐŽĨůŝĨĞĨŽƌďĞƩĞƌƉƌŽŐŶŽƐŝƐ͘
ZĞĐĂůůďĂďŝĞƐƵƌŐĞŶƚůLJĨŽƌƌĞƉĞĂƚd^,Θ&dϰ
ii) &ŝůůƵƉƚŚĞĚĂƚĂĐŽůůĞĐƟŽŶĨŽƌŵ;ƉƉĞŶĚŝdžϮͿĂŶĚƐĞŶĚ
ƚŚŝƐƚŽƚŚĞWĂĞĚŝĂƚƌŝĐĚŽĐƚŽƌŝŶĐŚĂƌŐĞ͘/ŶĂĚĚŝƟŽŶŐŝǀĞ
ƉĂƌĞŶƚƐƚŚĞŝŶƐƚƌƵĐƟŽŶƐŚĞĞƚĂŶĚƚŚĞĚĂƚĞƚŽƌĞƚƵƌŶ ΎEŽƚĞ͗
ĨŽƌĂďůŽŽĚƐĂŵƉůĞ;ĂŌĞƌƚŚĞϯǤǖĚĂLJŽĨůŝĨĞͿ͘ >ĂďŝƐĞŶĐŽƵƌĂŐĞƚŽĚĞƚĞƌŵŝŶĞŽǁŶϵϳ͘ϱƚŚƉĞƌĐĞŶƟůĞ;ƵƐĞůŽŐ
iii) The Paediatric Department is responsible to collect d^,ĨŽƌŝƚƐĚĞƚĞƌŵŝŶĂƟŽŶͿĨŽƌd^,ƚŽďĞƵƐĞĚĂƐĐƵƚŽīǀĂůƵĞ
ƚŚĞďůŽŽĚƐĂŵƉůĞ͘ůŽŽĚƐĂŵƉůĞƐĐŽůůĞĐƚĞĚĂŌĞƌƚŚĞ
3ǤǖĚĂLJŽĨůŝĨĞƐŚŽƵůĚďĞǀĞŶŽƵƐƐĂŵƉůĞƐŽĨĂƚůĞĂƐƚϮ
mls.

EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 32
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ϰ͘ tƵ>>͕^ĂnjĂůŝ^͕ĚĞĞďE͕<ŚĂůŝĚ<͘ŽŶŐĞŶŝƚĂůŚLJƉŽƚŚLJƌŽŝĚŝƐŵƐĐƌĞĞŶŝŶŐƵƐŝŶŐĐŽƌĚ
ďůŽŽĚd^,͘;ƐƵďŵŝƩĞĚĨŽƌƉƵďůŝĐĂƟŽŶϭϵϵϴͿ^ĂŵƉůĞƐŝnjĞϭϭ͕ϬϬϬ;ϯĚĞƚĞĐƚĞĚĐĂƐĞƐͿ

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Ministry of Health, Malaysia. February 1998

ϭϬ͘ ŵĂƌ ,^^͘ ^ĐƌĞĞŶŝŶŐ ĨŽƌ ĐŽŶŐĞŶŝƚĂů ŚLJƉŽƚŚLJƌŽŝĚŝƐŵ͗ dŚĞ ƌŐƵŵĞŶƚ ĨŽƌ Ă EĂƟŽŶĂů
WƌŽŐƌĂŵŵĞŝŶDĂůĂLJƐŝĂ͘DĂůĂLJƐŝĂ:ŚŝůĚ,ĞĂůƚŚĞĐϭϵϵϰ͖sŽůϲ;ϮͿ͗ϳϬͲϳϵ

11. ĂƌŶĞƐE͘^ĐƌĞĞŶŝŶŐĨŽƌǀŽŶŐĞŶŝƚĂůŚLJƉŽƚŚLJƌŽŝĚŝƐŵ͗ƚŚĞĮƌƐƚĚĞĐĂĚĞ͘ƌĐŚƐŚŝůĚϭϵϴϱ͖
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ĂŶĚŵĞƌŝĐĂŶdŚLJƌŽŝĚƐƐŽĐŝĂƟŽŶŽŵŵŝƩĞĞŽŶWƵďůŝĐ,ĞĂůƚŚ͘EĞǁďŽƌŶƐĐƌĞĞŶŝŶŐĨŽƌ
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ϭϰ͘ ŵĂƌ ,^^͕ <ƵĂŶ '>͕ ^ŝǀĂůĂů ^͕ ,ĂƌƵŶ &͕ tƵ >>͕ ZŽŚĂŶĂ /͕ :ĂƵĚŝŶ Z͘ ,ĞĂůƚŚ dĞĐŚŶŽůŽŐLJ
ƐƐĞƐƐŵĞŶƚŽĨĐŽŶŐĞŶŝƚĂůŚLJƉŽƚŚLJƌŽŝĚŝƐŵƐĐƌĞĞŶŝŶŐƉƌŽŐƌĂŵŵĞƐ͘ǀŝĚĞŶĐĞďĂƐĞĚƌĞǀŝĞǁ͕
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EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 33
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ϭϳ͘ Layde PM, Allmen Sor, Oakley GP, Congenital Hypothyroidism Control Programme-A Cost
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EĂƟŽŶĂů^ĐƌĞĞŶŝŶŐWƌŽŐƌĂŵŵĞĨŽƌŽŶŐĞŶŝƚĂů,LJƉŽƚŚLJƌŽŝĚŝƐŵϮϬϭϴ 34