1. 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
2. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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
3. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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
29779
29517
31987
52789
57951
2005 2006 2007 2008 2009 2010
2011 2012 2013 2014 2015 2016
4. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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:
adan
13%
farwanyia
15%
jahra
10%
maternity
24%
alsalam
6%
alseif
2%
darelshifa
11%
alia
1%
alorf
4%
hady
5% alomoma
3%
almowast
3%
london
1%
KOC
1%
tiba
1%
5. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
Nationality distribution among 57951 filter
papers screened
kuwaiti non kuwaiti
negative screen postive screen
484
High risk
501
High risk
28912 29039
6. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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
7. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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"
8. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
Type of abnormality among 986 informed
as have high risk after screening
BIOTINDASE
6%
CAH
25%
VLCAD
1%
MMA/PA
6%IVA
7%MCAD
3%
3HMG/MCC/MCD/BKT
6%
LCHAD/TFP
0%
GALA
1%
CONGENITAL
HYPOTHYROIDISM
9%
MSUD
1%
HOMOCYSTINURIA
4%
PKU
5%
TYRSINEMIA
8%
CITTRULINMEIA /ASA
2%
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
9. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
Received samples for newborn screening
each month during period from 1/1/2016 to
31/12/2016
JA N F E B MA RC H A P RIL MA Y JUNE JULY A UGUS T S E P T OC T NOV DE C
623 477 590 567 592 570 623 568 614 693 732 626
1155
1063
1151 1093 1169 1080 1112 1132 1052
1328 1391
1334
466
485
455 470 481
433 454 504 478
522
656
521
757
615
669 679
793
707 739 679 700
788 460
769
1825
1635
1725 1757
1992
1843
1921 1928 1855
2145
1830 1880
adan mat jah far private
10. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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
11. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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 24
hrs
24-48 hrs 48hrs-7days 7days-30
days
more than
30 days
postive screen 120 424 325 103 14
negative screen 1360 41836 9822 3221 726
1360
41836
9822
3221
726
120
424
325
103
14
negative screen postive screen
12. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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
13. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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
14. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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
50
49
34
6
1
4
2
6
1
3
1 2 1 1 2
15. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
Samples in 2016
0
10000
20000
30000
40000
50000
60000
Total samples screened postive screens confirmed cases
Series1 57951 986 112
16. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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
17. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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
18. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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
20. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
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