Kuwait newborn screening , annual report 2017, neonate screening kw , Kuwait metabolic screening , inborn errrors Kuwait , metabolic screening ,

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 2017

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 2017
3029 2547 2438
4714
15287
17692
25228
29779 29517
31987
52789
57951
59655
0
10000
20000
30000
40000
50000
60000
70000
1
2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017

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 Alrashid
Differentiation of samples received in 2017 according to the source shown in the next graph:
alfarwanyia
15%
aljahra
10%
Adan
13%
maternity
25%
alsalam
5%
dareelshifa
11%
alseif
3%
alomoma
3% almowasat
3%
alia
1%
alorf
4%
KOC
1%
london
1%
tiba
1%
alhady
4%
alrashid
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 59655 filter
papers screened in 2017
negative screen postive screen
649
640
28498 29868

6. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
Gender distribution among filter papers
screened
kuwaiti-male kuwaiti-female kuwaiti-amp Non-kuwaiti-male Non-kuwaiti-female Non-kuwaiti-amp
15624 14711 13 14923 14209 15
0
2000
4000
6000
8000
10000
12000
14000
16000

7. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
Positive screens
0
10000
20000
30000
40000
50000
60000
1
58366
1289
negative "low risk" postive "high risk"Negative screens Positive screens

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 1289 informed
as positive screens
biotindase
6% VLCAD
3% IVA
2%
CAH
18%
MMA/PA
9%
MCAD
4%
LCHAD/TFP
1%
3HMG/MCC/MCD/BKT
1%
GALACTOSEMIA
1%
CONGENITAL
HYPOTHYRODISM
9%
MSUD
5%
HOMOCYSTINURIA/HYPE
RMETHIONEMIA
9%
PKU/HYPERPHENYLALANEMIA
4%
TYROSINEMIA
1%
CITRULINEMIA/ASA
3%
GLUTRIC ACIDURIA
1%
MULTIPLE NON SPECIFIC
PARAMETERS
22%

9. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
No. of samples received per-month
0
1000
2000
3000
4000
5000
6000

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 of samples
received
3350
17123
39182
less than 33 weeks 33-37 weeks more than 37 weeks

11. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
Time of collection of sample screening
less than 24 hours
24-48 hours48hrs-1week
1week-1month
more than 1 month

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 screens
that die before confirmation :
0
5
10
15
20
25
adan jahra maternity farwnyia
7
2
25
13

13. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
Incomplete demographic information in the
filter papers received :
0
20
40
60
80
100
120
140
160
180
1
123
68
179
74
45
adan jahra farwanyia maternity private

14. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
Distribution of confirmed cases
0
10
20
30
40
50
60
70
61
6
0
7
5
0 0
3
4
44
0
2
6
1
2
3
0

15. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
View on samples received in 2017
0
10000
20000
30000
40000
50000
60000
1
58366
1098
144 279
negative samples postive screens that were normal on confirmatory tests
confirmed postive Nonspecific elevation in many parameters

16. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
Results that show non-specific elevation of
many-parameters

17. 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 in 2017: 1 diseased newborn: from each 414 born
Year 2015 2016 2017
FPR (false positive rate) 2.8% 1.5 % 1.9%
PPV (positive predictive value) 7.1 % 11.3% 14.3%
 In 2017 , many cutoffs were changed
6 false positive: 1 true positive

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
2017
Disorder Marker
First
screen
confirmed PPV%
1 biotindase Biot.enz 81 61 75.31%
2 VLCAD C14:1 38 6 15.79%
3 IVA C5 28 0 0.00%
4 CAH 17OHP 232 7 3.02%
5 MMA/PA C3 118 5 4.24%
6 MCAD C8 57 0 0.00%
7 LCHAD/TFP C16OH 16 0 0.00%
8 3HMG/MCC/MCD/BKT C5OH 14 3 21.43%
9 GALACTOSEMIA T.GAL + GALT 15 4 26.67%
10 CONGENITAL HYPOTHYRODISM TSH 110 44 40.00%
11 MSUD LEU/IISe 70 0 0.00%
12 HOMOCYSTINURIA/HYPERMETHIONEMIA Met 119 2 1.68%
13 PKU/HYPERPHENYLALANEMIA Phe 49 6 12.24%
14
TYROSINEMIA
TYR+ 2nd tier
succinylacetone 16 1
6.25%
15 CITRULINEMIA/ASA Cit 33 2 6.06%
16 GLUTRIC ACIDURIA C5DC 14 3 21.43%

19. 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
from (2015-2017)
Disorder
First
screen
confirmed PPV%
1 Congenital adrenal hyperplasia 740 15 2.03%
2 Biotindase deficiency 237 152 64.14%
3 Congenital hypothyroidism 464 109 23.49%
4 Galactosemia ( classic + galactokinase +galactoepimerase) 44 11 25.00%
5 Citrullinemia + ASA 95 8 8.42%
6 Tyrosiemia I 533 4 0.75%
7 Phenylketonuria 183 12 6.56%
8 Homocystinuria + hypermethionemia 190 3 1.58%
9 MSUD 106 3 2.83%
10 MCAD 121 2 1.65%
11 VLCAD 57 14 24.56%
12 LCHAD 18 1 5.56%
13 Glutaric aciduria I 16 3 18.75%
14 Isovaleric aciduria IVA 114 0 0.00%
15 PA+MMA+MCA 240 15 6.25%
16 3HMG+BKT+MCC+MCD 139 5 3.60%

20. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
‫بستكي‬ ‫د.ليلي‬
) ‫الوراثية‬ ‫لألمراض‬ ‫الكويت‬ ‫مركز‬ ‫ورئيسة‬ ‫(استشاري‬
)‫الوالدة‬ ‫حديثي‬ ‫لمسح‬ ‫الوطني‬ ‫البرنامج‬ ‫رئيسة‬ (
‫مسح‬ ‫برنامج‬ ‫لفريق‬ ‫وعرفان‬ ‫شكر‬‫حديثي‬‫الوالدة‬‫من‬ ‫قدموه‬ ‫لما‬‫مجهود‬‫مسح‬ ‫برنامج‬ ‫انجاح‬ ‫في‬ ‫ساهم‬‫المواليد‬
‫رئيسة‬ ‫الخواري‬ ‫منى‬ ‫للدكتورة‬ ‫خاص‬ ‫شكر‬‫مجلس‬‫االطفال‬ ‫طب‬ ‫اقسام‬‫سابق‬‫ا‬‫في‬ ‫لمجهودها‬‫المواليد‬ ‫مسح‬ ‫برنامج‬ ‫انجاح‬
‫المواليد‬ ‫مسح‬ ‫مختبر‬‫الرشود‬ ‫رشود‬ ‫د.مي‬)‫المواليد‬ ‫مسح‬ ‫مختبر‬ ‫(رئيسة‬
‫عبدالعظيم‬ ‫د.أمير‬
‫عبدالرحمن‬ ‫د.رحاب‬
‫مسح‬ ‫مكتب‬‫المواليد‬
‫الوالدة‬ ‫بمستشفى‬
)‫الخدج‬ ‫األطفال‬ ‫قسم‬ ‫ورئيس‬ ‫استشاري‬ ( ‫الحربي‬ ‫د.محمد‬
)‫الخدج‬ ‫األطفال‬ ‫(استشاري‬ ‫الكاظمي‬ ‫د.نوال‬
)‫الخدج‬ ‫االطفال‬ ‫استشاري‬ ( ‫عبدة‬ ‫د.ابتهاج‬
)‫خدج‬ ‫اطفال‬ ‫طبيب‬ ( ‫حسين‬ ‫د.أالء‬
‫المواليد‬ ‫مسح‬ ‫مكتب‬
‫الجهراء‬ ‫بمستشفى‬
‫قسم‬ ‫ورئيس‬ ‫(استشاري‬ ‫العنزي‬ ‫د.فهد‬) ‫االطفال‬
) ‫الخدج‬ ‫االطفال‬ ‫قسم‬ ‫ورئيس‬ ‫(استشاري‬ ‫احمد‬ ‫سيد‬ ‫د.عيسى‬
‫د.ياسر‬‫محمد‬) ‫خدج‬ ‫أطفال‬ ‫(طبيب‬ ‫الفقي‬
) ‫خدج‬ ‫أطفال‬ ‫طبيب‬ ( ‫ذكي‬ ‫د.أحمد‬
‫المواليد‬ ‫مسح‬ ‫مكتب‬
‫العدان‬ ‫بمستشفى‬
‫د.فواز‬‫الرفاعي‬‫ورئيس‬ ‫(استشاري‬‫أ‬‫قس‬‫ا‬)‫االطفال‬ ‫م‬
)‫الخدج‬ ‫األطفال‬ ‫ورئيس‬ ‫استشاري‬ ( ‫النقيب‬ ‫د.نيران‬
) ‫خدج‬ ‫أطفال‬ ‫(طبيب‬ ‫جاد‬ ‫د.أحمد‬
) ‫خدج‬ ‫أطفال‬ ‫(طبيب‬ ‫د.سيريل‬
‫المواليد‬ ‫مسح‬ ‫مكتب‬
‫الفروانية‬ ‫بمستشفى‬
)‫االطفال‬ ‫قسم‬ ‫ورئيس‬ ‫(استشاري‬ ‫العتيبي‬ ‫د.سعد‬
‫االطفال‬ ‫قسم‬ ‫ورئيس‬ ‫(استشاري‬ ‫الصوان‬ ‫د.ريما‬‫الخدج‬)
) ‫خدج‬ ‫أطفال‬ ‫(طبيب‬ ‫عبدهللا‬ ‫د.سعيد‬
) ‫خدج‬ ‫أطفال‬ ‫(طبيب‬ ‫القزاز‬ ‫د.أسامه‬
‫مختبر‬‫البيوكميستري‬
‫بالصباح‬
‫خليفة‬ ‫جاسم‬ .‫د‬
‫راو‬ ‫د.أريفيندر‬
‫الصراف‬ ‫د.احمد‬
‫جيريش‬ ‫د.ياديف‬
‫سلوم‬ ‫د.أيمن‬
‫األمراض‬ ‫استشاريين‬
‫األيضية‬
‫رمضان‬ ‫د.دينا‬
‫مخصيد‬ ‫د.نوال‬
‫الصفي‬ ‫د.رشا‬
‫الصماء‬ ‫الغدد‬ ‫استشاريين‬‫المزيدي‬ ‫د.زيدان‬
‫حسن‬ ‫محمد‬ ‫د.امير‬
‫الكندري‬ ‫د.حصة‬
‫د.ماريا‬
‫العنزي‬ ‫د.عايد‬
‫المستودعات‬‫الطبية‬‫المنصور‬ ‫/هند‬ ‫السيدة‬

21. Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near maternity hospital - al-sabah
health region at Tel: 24814328 – Fax : 24823242
Acknowledgment to our hard works lab technicians
 Eqbal Sarkhouh (Senior in charge Chief Technician)
 Heba Bu Hamad (Deputy of chief technician)
 Ghadeer Al Otaibi
 Nawaf Al Qashim
 Eman A.Karim
 Wali Sayed
 Muzaffar Ali Baig
 Shigo Pallissery
 Benson Stanly Thypattle
 Nafih Kp Abdul Kp
 Iqbal Baig
 Gowri
 Lakchmi
 Pooja