kuwait newborn screening annual statistic 2016

Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah

health region at Tel: 24814328 – Fax : 24823242

Annual statistics 2016



Introduction: Newborn screening is a public health system made up of many different yet integral parts:

screening, diagnosis, management, evaluation and education.

The primary goal of newborn screening is the early identification of affected infants

in time to prevent serious health problems.

While all of the diseases tested for are rare and not usually apparent at birth, a collectively large

number of affected infants in Kuwait will be found to have these conditions every year but with

low incidence. Screening program can help these children to have the best start in life through

timely newborn screening, early diagnosis and treatment.

If the infant is screen positive, this does NOT mean that the infant has a disease; however, it does

mean that the infant has an increased chance to have a disease.

From June 2014 the screening panel expanded to include 22 diseases

Test

Amino Acidemias :

Phenylketonuria (PKU)

Maple syrup urine disease (MSUD)

Homocystinuria (Cystathionine synthase def.)

Citrullinemia (ASA synthase deficiency )

Tyrosinemia (Type 1)

Argininosuccinic Aciduria (ASA Lyase deficiency)

Organic Acidemias :

Propionic Acidemia (PA)

Methylmalonic Acidemia (MMA)

Isovaleric Acidemia (IVA)

Glutaric Acidemia Type I (GA-I)

3-methylcrotonyl-CoA Carboxylase deficiency (3MCC)

Beta Ketothiolase deficiency

(Mitochondrial Acetoacetyl CoA Thiolase deficiency)

Multiple CoA Carboxylase deficiency (MCD)

Fatty Acid Oxidation Defect :

Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)

Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD)

Long Chain Hydroxy Acyl Dehydrogenase (LCHAD)

Trifunctional Protein Deficiency (TFP)

3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency (3HMG)

Galactosemia

Biotinidase Deficiency

Endocrine Disorders :

Congenital Hypothyrodism

Congenital Adrenal Hyperplasia



Total number of filter papers received for

screening each year from 2005 to 2016

0

10000

20000

30000

40000

50000

60000

3029 2547 2438

4714

15287

17692

25228

2977929517

31987

52789

57951

2005 2006 2007 2008 2009 2010

2011 2012 2013 2014 2015 2016



National newborn screening program cover 100% of enrolled

hospitals as shown in the next list:

Governmental hospitals

Private hospitals

Alfarwanyia H Alsalam H Almowasat H London H Aljahra H Darelshifa H Alia H Tiba H Aladan H Alseif H Alorf H Alhady H Almaternity H Alomoma H KOC H

Differentiation of samples received in 2016 according to the source shown in the next graph:

adan13%

farwanyia 15%

jahra 10%

maternity 24%

alsalam6%

alseif2%

darelshifa11%

alia1%

alorf4%

hady 5% alomoma

3%

almowast3%

london1%

KOC1%

tiba 1%



Nationality distribution among 57951 filter

papers screened

kuwaiti non kuwaiti

negative screen postive screen

28912 29039

484

High risk

501

High risk

28912 29039



Sex distribution among filter papers

screened

kuwaiti

non-kuwaiti

0

2000

4000

6000

8000

10000

12000

14000

16000

ampgious male female

kuwaiti 9 14866 14037

non-kuwaiti 12 14920 14107

kuwaiti non-kuwaiti



Total positive results “high risk “after

screening among 57951 filter papers

0

10000

20000

30000

40000

50000

60000

1

56965

986

negative "low risk" postive "high risk"



Type of abnormality among 986 informed

as have high risk after screening

BIOTINDASE 6%

CAH25%

VLCAD 1%

MMA/PA6%IVA

7%MCAD

3%3HMG/MCC/MCD/BKT

6%LCHAD/TFP

0%

GALA1%

CONGENITAL HYPOTHYROIDISM

9%

MSUD1%

HOMOCYSTINURIA4%

PKU5%

TYRSINEMIA 8%

CITTRULINMEIA /ASA2%

MULTIPULE NON SPECIFIC PARAMETERS

15%

BIOTINDASE CAH

VLCAD MMA/PA

IVA MCAD

3HMG/MCC/MCD/BKT LCHAD/TFP

GALACTOSEMIA CONGENITAL HYPOTHYROIDISM

MSUD HOMOCYSTINURIA /HYPERMETHIONEMIA

PKU/HYPERPHENYLALNINEMIA TYRSINEMIA

CITTRULINMEIA /ASA MULTIPULE NON SPECIFIC PARAMETERS



Received samples for newborn screening

each month during period from 1/1/2016 to

31/12/2016

J A N F E B M A R C H A P R I L M A Y J U N E J U L Y A U G U S T S E P T O C T N O V D E C

623 477 590 567 592 570 623 568 614 693 732 626

11551063

1151 1093 1169 1080 1112 1132 10521328 1391

1334

466485

455 470 481433 454 504 478

522656

521

757615

669 679793

707 739 679 700

788 460769

1825

16351725 1757

19921843

1921 1928 1855

21451830 1880

adan mat jah far private



Gestational age distribution among samples

differentiated according to the result

>40 weeks 33-37 weeks <33 weeks

postive screen 327 387 272

negative screen 37961 15782 3223

37961

15782

3223

327

387

272

0

5000

10000

15000

20000

25000

30000

35000

40000

45000



Samples received for screening and positive

results informed according to samples age

at time of collection

0

5000

10000

15000

20000

25000

30000

35000

40000

45000

less than 24hrs

24-48 hrs 48hrs-7days 7days-30days

more than30 days

postive screen 120 424 325 103 14

negative screen 1360 41836 9822 3221 726

1360

41836

9822

3221726

120

424

325

10314

negative screen postive screen



Number of infants with positive screen

results but die before confirmation for

different reasons:

14

11

3

14

0 2 4 6 8 10 12 14 16

adan

farwanyia

jahra

maternity



Recurrence of incomplete demographic

information for samples received according

to the source

0

10

20

30

40

50

60

70

80

1

23

72

18

9

43

adan farwanyia maternity aljahra private



Confirmed cases in the period between

1/1/2016 to 31/12/2016: 112 cases shown in

the next graph:

0

5

10

15

20

25

30

35

40

45

5049

34

6

1

42

6

13

1 2 1 1 2



Samples in 2016

0

10000

20000

30000

40000

50000

60000

Total samples screened postive screens confirmed cases

Series1 57951 986 112



Screening performance indicator descriptions

indicator Description Newborn N The total number of live births

Total + Total number of positive screens

Confirmed + Number of confirmed cases

False positive positive screens that was negative by confirmation tests

Detection rate The number of infants having a confirmed disorder out of the total number of the infants screened depicted as a ratio. one case per “X” number of infants screened depicted as 1:”X”

FPR False positive rate: the number of infants with false positive screens divide by the total number of infants screened expressed as a percentage (%)

PPV Positive predictive value: the number of infants confirmed with disease divided by the number of infants having positive screens expressed as a percentage (%)

Sensitivity The number of true positive screens divided by the total number of true positive and false negative screens True positives / true positives + false negatives

Specificity The number of true negative screens divided by the total number of true negative and false negative screens True negative /(false negative + true negative )

Detection rate: 1 diseased newborn: from each 401 born

Year 2015 2016

FPR (false positive rate) 2.8% 1.5 %

PPV (positive predictive value) 7.1 % 11.3%

Comment: false positive rate decrease and positive predictive value increase due

to modification in the screening of tyrosinemia I by adding 2nd tier

succinylacetone starting from March 2016

11 false positive: 1 true positive



Positive predictive values for markers in

2016

Disorder Marker First screen confirmed PPV%

1 Congenital adrenal hyperplasia 17OHP 248 2 0.8%

2 Biotindase deficiency Biot.enz 60 49 81.6%

3 Congenital hypothyroidism TSH 84 34 40%

4 Galactosemia ( classic + galactokinase +galactoepimerase)

T.GAL + GALT

14 3+1 28.6%

5 Citrullinemia + ASA Cit 23 1+1 8.7%

6 Tyrosiemia I Tyr 77 1 1.2%

7 Phenylketonuria Phe 46 3 6.5%

8 Homocystinuria + hypermethionemia Met. 35 0 0

9 MSUD LEU/IISe 11 2 18.1%

10 MCAD C8 34 2 5.9%

11 VLCAD C14:1 10 6 60%

12 LCHAD C16OH 1 0 0

13 Glutaric aciduria I C5DC 0 0 0

14 Isovaleric aciduria IVA C5 72 0 0

15 PA+MMA+MCA C3 62 1+6+0 11.3

16 3HMG+BKT+MCC+MCD C5OH 60 1 0.16%

17 Nonspecific elevation of multi parameter for repeating

149



Positive predictive values for markers in

both 2015 & 2016

Disorder Marker First screen confirmed PPV%

1 Congenital adrenal hyperplasia 17OHP 508 8 1.6%

2 Biotindase deficiency Biot.enz 156 91 58.3%

3 Congenital hypothyroidism TSH 354 65 18.4%

4 Galactosemia ( classic + galactokinase +galactoepimerase)

T.GAL + GALT

29 7 24.1%

5 Citrullinemia + ASA Cit 62 3+3 9.7%

6 Tyrosiemia I Tyr 517* 3 0.6%

7 Phenylketonuria Phe 134 6 4.5%

8 Homocystinuria + hypermethionemia Met. 71 1+1JAN2017 2.8%

9 MSUD LEU/IISe 36 3 8.3%

10 MCAD C8 64 2 3.1%

11 VLCAD C14:1 19 8 42.1%

12 LCHAD C16OH 2 1 50%

13 Glutaric aciduria I C5DC 2 0 0

14 Isovaleric aciduria IVA C5 86 0 0

15 PA+MMA+MCA C3 122 2+8+0 8.2%

16 3HMG+BKT+MCC+MCD C5OH 125 2 1.6%

17 Nonspecific elevation of multi parameter for repeating

266



د.ليلي بستكي )استشاري ورئيسة مركز الكويت لألمراض الوراثية (

) رئيسة البرنامج الوطني لمسح حديثي الوالدة(

د سج الموالي مامج رن اح ب ج

ي ان هود ساهم ف دموه من مج د لما ق سج الموالي

مامج رن ق ب ري ان لف كر وعرف

ش

د سج الموالي مامج رن اح ب ج

اء و ان س ي ان ها ف

ادن هود سي مج لي الولاه

ن ال وحدئ سام طب الاطف سة اق ي واري رئ

ي الخ وره من اص للدكت كر خ ش

المكتب الرئيسي )مركز الوراثة(

د.مي رشود الرشود د.أمير عبدالعظيم

د.رحاب عبدالرحمن

مكتب مسح المواليد بمستشفى الوالدة

استشاري ورئيس قسم األطفال الخدج(د.محمد الحربي ) د.نوال الكاظمي )استشاري األطفال الخدج( د.ابتهاج عبدة ) استشاري االطفال الخدج(

د.أالء حسين ) طبيب اطفال خدج(

مكتب مسح المواليد بمستشفى الجهراء

د.فهد العنزي )استشاري ورئيس قسم االطفال ( االطفال الخدج (د.عيسى سيد احمد )استشاري ورئيس قسم

الفقي )طبيب أطفال خدج ( محمدد.ياسر د.أحمد ذكي ) طبيب أطفال خدج (

مكتب مسح المواليد بمستشفى العدان

)استشاري ورئيس قسم االطفال(الرفاعي د.فواز د.نيران النقيب ) استشاري ورئيس األطفال الخدج(

د.أحمد جاد )طبيب أطفال خدج ( خدج (د.سيريل )طبيب أطفال

مكتب مسح المواليد بمستشفى الفروانية

د.سعد العتيبي )استشاري ورئيس قسم االطفال( (الخدج د.ريما الصوان )استشاري ورئيس قسم االطفال

د.سعيد عبدهللا )طبيب أطفال خدج ( د.أسامه القزاز )طبيب أطفال خدج (

مختبر البيوكميستري بالصباح

د. جاسم خليفة د.أريفيندر راو د.احمد الصراف د.ياديف جيريش

د.أيمن سلوم

استشاريين األمراض األيضية

د.رشا الصفي د.نوال مخصيد د.دينا رمضان

د.زيدان المزيدي استشاريين الغدد الصماء د.امير محمد حسن

د.حصة الكندري د.ماريا

د.عايد العنزي

السيدة /هند المنصور الطبيةالمستودعات



Ahmed Al Ahmed Lab Technician

Eman A.Karim Lab Technician

Iqbal Baig Lab Technician

Benson Stanly Thypattle Lab Technician

Ghadeer Al Otaibi Lab Technician

Nawaf Al Qashim Lab Technician

Wali Sayed Lab Technician

Shigo Pallissery Lab Technician

Eqbal Sarkhouh Senior in charge Chief Technician

Nafih Kp Abdul Kp Lab Technician

Dr. Laila Bastaki Head of Kuwait Medical Genetic Center

Dr.May Alroshood Senior biochemistry

Dr.Amir Abdelazeam Biochemistry Registrar

Dr.Rehab Abdelrahman Coordinator -assistant registrar

Lab Team

Muzaffar Ali Baig Lab Technician

Heba Bu Hamad Senior,Lab Technician

kuwait newborn screening annual statistic 2016

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