Annual2018 kuwait newborn screening

1. Annual statistics
2018
Introduction:
Location: Kuwait medical genetic center in Ghanima Ahmed Alghanim center near
maternity hospital - al-sabah health region at Tel: 24814328 – Fax : 24823242

2. 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. 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 )

4. Hospitals covered:
Differentiation of samples received in 2018
according to the source shown in the next
graph:
maternity
23%
jahra
10%
farwanyia
15%adan
13%
alsalam
5%
alseif
3%
darelshifa
11%
aliaa
1%
alorf
4%
alhady
5%
sidra
3%
almowasat
3%
alrashid
1%
london
1%
KOC
1%
tiba
1%
maternity
jahra
farwanyia
adan
alsalam
alseif
darelshifa
aliaa
alorf
alhady
sidra
almowasat
alrashid
london
KOC
tiba
Govern
mental
hospita
ls
Alfarwanyia Hospital
Aljahra Hospital
Aladan Hospital
Almaternity Hospital
Privatehospitals
Alsalam Hospital
Darelshifa Hospital
Alseif Hospital
Alomoma Hospital
Almowasat Hospital
Alia Hospital
Alorf Hospital
KOC Hospital
London Hospital
Tiba Hospital
Alhady Hospital
Alrashid ospital

5. Total number of filter papers received
(2005 to 2018)
0
10000
20000
30000
40000
50000
60000
3029
2547 2438
4714
15287
17692
25228
29779
29517
31987
52789
57951
59655
55210
2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018

6. Kuwaiti Vs Non-Kuwaiti
380
551
25819
29391
Kuwaiti
Non-Kuwaiti

7. Gender distribution among filter papers
screened
0
2000
4000
6000
8000
10000
12000
14000
16000
male
female
amp
15184
14200
7
13134
12676
9
male female amp
kuwaiti 15184 14200 7
non-kuwaiti 13134 12676 9
kuwaiti
non-kuwaiti

8. Positive screens
0
10000
20000
30000
40000
50000
60000
postive screen negative screen
931
54279

9. Type of abnormality among 931 informed as
positive screens
MULTIPLE NON
SPECIFIC
PARAMETERS
11%
GLUTARIC ACIDURIA
2%
CITRULINEMIA /ASA
7%
TYROSINEMIA
2%
PKU/HYPERPHENYLA
LANEMIA
2%
HOMOCYSTINURIA/
HYPERMETHIONEMI
A
9%
MSUD
2%CONGENITAL
HYPOTHYROIDISM
14%
GALACTOSEMIA
2%
LCHAD/TFP
0%
3HMG/MCC/MCD/B
KT
0%
MCAD
3%
MMA/PA
7%
CAH
22%
IVA
2%
VLCAD
4%
BIOTINDASE
10%

10. No. of samples received per-month
0
500
1000
1500
2000
2500
3000
3500
4000
4500
5000
4847
3983
4570
4316
4543
4384
4922
4445
4941 4921
4515
4823

11. Gestational age distribution of samples
received
less than 33 weeks
6%
33-37 weeks
14%
more than 37 weeks
80%
less than 33 weeks
33-37 weeks
more than 37 weeks

12. Time of collection of sample screening
less than 24 hrs,
1465
24-48 hrs , 37751
24hrs-7days,
12348
7- 30 days , 2848
more than one
month, 798

13. Number of infants with positive screens that
die before confirmation:
0
5
10
15
20
25
30
adan jahra farwanyai maternity
8
4
10
26

14. Incomplete demographic information in the
filter papers :
Samples refused:
0
10
20
30
40
50
adan farwanyia jahra maternity private
19
39
6 12
44
0
5
10
15
20
25
inappropriate samples vistors not included in the
program
11
23

15. Distribution of confirmed cases
0
10
20
30
40
50
60
70
0
3
1
5
0 0
41
1
0 0
2
1 4
0
10
67

16. View on samples received in 2018
0
10000
20000
30000
40000
50000
60000
1
54279
795 98
negative samples
postive screen that were normal in confirmatory tests
confirmed postive
non speccific elevation in many parameters
135
Please See next page

17. Results that show non-specific elevation of
many-parameters (98 results)

18. Screening performance indictor
Detection rate in 2018: (1 diseased newborn: from each 405 born)
Year 2015 2016 2017 2018
FPR (false positive rate) 2.8% 1.5 % 1.9% 1.4%
PPV (positive predictive value) 7.1 % 11.3% 14.3% 14.6%
Positive predictive values for markers in 2018
Disorder Marker First
screen+
Confirmed + False
negative
FPR% PPV%
Biotindase deficiency Biot.enz 91 67
Profound:3
Partial :64
0 0.04% 73.63%
CAH 17OHP 206 4 0 0.37% 1.94%
CONGENITAL
HYPOTHYRODISM
TSH 134 41 2 0.17% 30.60%
GALACTOSEMIA T.GAL +
GALT
18 1 0 0.03% 5.56%
VLCAD C14:1 36 10 0 0.05% 27.78%
IVA C5 22 0 0 0.04% 0.00%
MMA/PA C3 69 1 0 0.1% 1.45%
MCAD C8 31 2 0 0.05% 6.45%
LCHAD/TFP C16OH 4 0 0 0.007% 0.00%
3HMG/MCC/MCD/BKT C5OH 0 0 0 0% -
MSUD LEU/IISe 21 0 0 0.04% 0.00%
HOMOCYSTINURIA/
hypermethionemia
Met 81 0 0 0.15% 0.00%
PKU
/HYPERPHENYLALANEMIA
Phe 23 5 1 0.03% 21.74%
TYROSINEMIA TYR 20 1 0 0.03% 5.00%
CITRULINEMIA/ASA Cit 61 3 0 0.1% 4.92%
GLUTRIC ACIDURIA C5DC 16 0 0 0.03% 0.00%
sample sent for 2nd tier
succinylacetone
succinyla
cetone
183 0 0 0.3% 0.00%
Total Ms/Ms disorders TM 384 22 1 0.7% 5.7%
6 false positive: 1 true positive

19. Positive predictive values for markers from
(2015-2018) after expansion
Disorder postive
screen
confirmed Detection
rate FPR%
PPV%
1 Congenital adrenal hyperplasia 946 19 1: 11,873 0.4% 2.01%
2 Biotindase deficiency (total)
328
219 1: 1,030
0.05% 66.77%Profound 10 1: 22,560
Partial 209 1 :1,079
3 Congenital hypothyroidism 598 150 1: 1,504 0.2% 25.08%
4 Galactosemia 62 12 1: 18,800 0.02% 19.35%
5 Citrullinemia + ASA 156 3 1: 75,201 0.07% 1.92%
6 Tyrosiemia I 756 4 1: 56,401 0.3% 0.53%
7 Phenylketonuria 206 17 1: 13,270 0.08% 8.25%
8 Homocystinuria
/Hypermethionemia 271 3 1: 75,201 0.1% 1.11%
9 MSUD 127 3 1: 75,201 0.05% 2.36%
10 MCAD 152 4 1: 56,401 0.07 2.63%
11 VLCAD 93 24 1: 9,400 0.03% 25.81%
12 LCHAD 22 1 1:
225,605
0.009% 4.55%
13 Glutaric aciduria I 32 3 1: 75,201 0.01% 9.38%
14 Isovaleric aciduria IVA 136 0 ------------ 0.06% 0.00%
15 PA+MMA+MCA 309 16 1: 14,100 0.1% 5.18%
16 3HMG+BKT+MCC+MCD 139 5 1: 45,121 0.06% 3.60%
Total Ms/Ms disorders 2399 83 1: 2,718 0.9% 3.5%

20. ‫بستكي‬ ‫د.ليلي‬
‫مركز‬ ‫ورئيسة‬ ‫(استشاري‬) ‫الوراثية‬ ‫لألمراض‬ ‫الكويت‬
)‫الوالدة‬ ‫حديثي‬ ‫لمسح‬ ‫الوطني‬ ‫البرنامج‬ ‫رئيسة‬ (
‫مسح‬ ‫برنامج‬ ‫لفريق‬ ‫وعرفان‬ ‫شكر‬‫حديثي‬‫من‬ ‫قدموه‬ ‫لما‬ ‫الوالدة‬‫مسح‬ ‫برنامج‬ ‫انجاح‬ ‫في‬ ‫ساهم‬ ‫مجهود‬‫المواليد‬
‫رئيسة‬ ‫الخواري‬ ‫منى‬ ‫للدكتورة‬ ‫خاص‬ ‫شكر‬‫سابق‬ ‫االطفال‬ ‫طب‬ ‫اقسام‬ ‫مجلس‬‫ا‬‫المواليد‬ ‫مسح‬ ‫برنامج‬ ‫انجاح‬ ‫في‬ ‫لمجهودها‬
‫المواليد‬ ‫مسح‬ ‫مختبر‬‫الرشود‬ ‫رشود‬ ‫د.مي‬)‫المواليد‬ ‫مسح‬ ‫مختبر‬ ‫(رئيسة‬
‫عبدالعظيم‬ ‫د.أمير‬
‫عبدالرحمن‬ ‫د.رحاب‬
‫المواليد‬ ‫مسح‬ ‫مكتب‬
‫الوالدة‬ ‫بمستشفى‬
)‫الخدج‬ ‫األطفال‬ ‫قسم‬ ‫ورئيس‬ ‫استشاري‬ ( ‫الحربي‬ ‫د.محمد‬
‫األطفال‬ ‫(استشاري‬ ‫الكاظمي‬ ‫د.نوال‬)‫الخدج‬
)‫الخدج‬ ‫االطفال‬ ‫استشاري‬ ( ‫عبدة‬ ‫د.ابتهاج‬
)‫خدج‬ ‫اطفال‬ ‫طبيب‬ ( ‫حسين‬ ‫د.أالء‬
‫المواليد‬ ‫مسح‬ ‫مكتب‬
‫الجهراء‬ ‫بمستشفى‬
) ‫االطفال‬ ‫قسم‬ ‫ورئيس‬ ‫(استشاري‬ ‫العنزي‬ ‫د.فهد‬
) ‫الخدج‬ ‫االطفال‬ ‫قسم‬ ‫ورئيس‬ ‫(استشاري‬ ‫احمد‬ ‫سيد‬ ‫د.عيسى‬
) ‫خدج‬ ‫أطفال‬ ‫(طبيب‬ ‫الفقي‬ ‫د.ياسرمحمد‬
( ‫ذكي‬ ‫د.أحمد‬) ‫خدج‬ ‫أطفال‬ ‫طبيب‬
‫المواليد‬ ‫مسح‬ ‫مكتب‬
‫العدان‬ ‫بمستشفى‬
‫ورئيس‬ ‫(استشاري‬ ‫الرفاعي‬ ‫د.فواز‬‫أ‬‫قس‬‫ا‬)‫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
‫(استشاري‬ ‫العتيبي‬ ‫د.سعد‬)‫االطفال‬ ‫قسم‬ ‫ورئيس‬
‫االطفال‬ ‫قسم‬ ‫ورئيس‬ ‫(استشاري‬ ‫الصوان‬ ‫د.ريما‬‫الخدج‬)
) ‫خدج‬ ‫أطفال‬ ‫(طبيب‬ ‫عبدهللا‬ ‫د.سعيد‬
) ‫خدج‬ ‫أطفال‬ ‫(طبيب‬ ‫القزاز‬ ‫د.أسامه‬
‫البيوكميستري‬ ‫مختبر‬
‫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