kuwait newborn screening annual report 2015
TRANSCRIPT
Annual statistics 2015
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 2015
Year Total NO. of filter papers 2005 3029
2006 2547 2007 2438
2008 4714 2009 15287
2010 17692 2011 25228
2012 29779 2013 29517 2014 31987
2015 52789
Total No. of screened newborn in relation to total No. of
deliveries in Kuwait
This table show that the project in 2015 include only newborn of the governmental
hospital (from Jan. to Apr.) and about 80 % of private join the program from May
2015 . The target in “2016” to reach all hospitals (governmental and private) so as
to include 100% from baby born in Kuwait.
Total No. of delivery in Kuwait Total No. of screened at KMGC “2015”
59,426 This last statistic available “2013” Source: central statistical bureau in Kuwait
Received sample 52,789 about 38,000 baby
Total No. of screened
at KMGC
Total No. of delivery in
Kuwait
Total No. of received filter papers for screening each
month during period from 1/1/2015 to 31/12/2015
Total No. of filter papers: 52,789
Month Farwanyia hospital
Adan hospital
Jahra hospital
Maternity hospital
Private Total
Jan. 406 686 642 942 - 2676
Feb. 668 584 480 1002 3 2737
Mar. 726 659 448 1151 93 3077 Apr. 630 569 537 1186 924 3846
May. 516 599 843 1295 1642 4887
Jun. 828 578 479 1176 1589 4650
Jul. 856 556 456 1205 1885 4958 Aug. 912 657 442 1143 2171 5325
Sept. 967 607 542 1144 1842 5012
Oct. 860 600 511 1177 1891 5039
Nov. 870 770 526 1303 2085 5554 Dec. 750 587 469 1231 1991 5028
Total No. of filter papers received for screening from each
hospital during period from 1/1/2015 to 31/12/2015
Total No. of filter papers: 52,789
MATERNITY FARWANIYA ADAN JAHRA Private
13849 9458 7296 5587 16599
Nationality distribution among
52,789 filter papers screened
Nationality NO. % Positive screen
Kuwaiti 23992 45.5% 723
Non-Kuwaiti 28797 54.5% 872
Sex distribution among
Filter papers screened
Sex No. %
Male 26,925 51
Female 25,830 48.999
Ambigious 34 .001
Gestational age distribution among
Informed high risk of (1595) screened
Gestational age No.
<37 weeks 595
33-37 weeks 568
>33 weeks 432
Informed high risk samples according to age papers
screened
Age No. %
≤1 day 596 30.4
2-4 days 636 39.9
4-7 days 158 9.9
<7 days 205 19.8
Total No. of cases informed as have high risk after
screening among 31987 filter papers screened
Result No. %
Informed “high risk” 1595 3 %
Normal “low risk” 51194 97 %
low riskhigh risk
51194
1595
Type of abnormality among 1595 informed as have high
risk after screening according to analyte which elevated
Method of analysis
Elevated analyte No. %
Dissociation Enhanced
Lanthanide Fluorescence
Immuno Assay
TSH 270 16.9 17αOH progesterone 260 16.3
Biotinidase def. 96 6 Galactosemia (classic
+galactokinase +galactoepimerase )
15 0.9
Phenylketonuria + hyperphenylalanemeia
88 5.5
Tandem mass spectrometry
Lc/ms.ms
Citrullinemia + ASA 39 2.4 Homocystinuria+hypermethionemia 36 2.3
Tyrosinemia (I+II+III) 440 27.4 MSUD 25 1.7
PA+MMA+MCA 60 3.8
IVA 43 2.7 3HMG+BKT+MCD+MCC 65 4.1
Glutaric aciduria I 1 .06 MCAD 30 1.9
VLCAD 9 0.6 LCHAD+TFP 0
NON SPECIFIC ELEVATION TO MULTI PARAMETERS (88% PRMATURITY )
118 7.4
Note:
These results show high false positive for multiple factors (as prematurity, feeding,
blood transfusion, drug exposure and else...) and further confirmatory tests need for
final diagnosis.
Screening performance indicator descriptions
indicator Description
Newborn N The total number of live births
Total +
Total number of positive screens (positive=screening value exceeds cutoff)
Confirmed + Number of positive cases that confirmed
False positive A positive screen infants that is not confirmed as a case of a disease included in the NBS panel
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 )
FPR (false positive rate) = 2.8 %
PPV (positive predictive value) = 7.2 %
Detection rate: 1 diseased newborn: from each 330 born
13 false positive: 1 true positive
Disorder Marker First screen confirmed
1 Congenital adrenal hyperplasia 17OHP 260 6
2 Biotindase deficiency Biot.enz 96 43
3 Congenital hypothyroidism TSH 270 31
4 Galactosemia ( classic + galactokinase
+galactoepimerase)
T.GAL +
GALT
15 3
5 Citrullinemia + ASA Cit 39 3+2
6 Tyrosiemia (TYR I+II+III) Tyr 440 2+9
7 Phenylketonuria +hyperphenylalaniemia Phe 88 4pku
+2h.phe
8 Homocystinuria + hypermethionemia Met. 36 1
9 MSUD LEU/IISe 25 1
10 MCAD C8 30 0
11 VLCAD C14:1 9 2
12 LCHAD C16OH 1 1
13 Glutaric aciduria I C5DC 1 0
14 Isovaleric aciduria IVA C5 43 0
15 PA+MMA+MCA C3 60 1+3
16 3HMG+BKT+MCC+MCD C5OH 65 1
17 Nonspecific elevation of multi parameter for
repeating
117 -
Screening performance indicator descriptions
0
10000
20000
30000
40000
50000
60000
totalpostiveconfirmed
52789
1595115
SAMPLES IN 2015
In 2015, newborn screening efforts resulted in successfully
identifying and treating 114 newborns affected with
conditions in time to prevent problems associated with them:
2 babies with argininosuccinic acidemia (ASA)
2 babies with citrullinemia
43 babies with partial (treated) biotinidase deficiency (BIO)
6 babies with congenital adrenal hyperplasia (CAH)
31 babies with congenital primary hypothyroidism (CPH)
3 baby with classic Galactosemia
1 baby with homocystinuria
1 baby with long chain hydroxyl acyl-CoA dehydrogenase deficiency (LCHAD)
2 babies with very long chain acyl-coA dehydrogenase deficiency (VLCAD)
3 babies with methylmalonic acidemia (MMA)
1 baby with propionic acidemia (PA)
4 babies with phenyketonuria (PKU) + 2 benign hyperphenylalaninemia
3 babies with tyrosinemia type I and 9 babies with transient tyrosinemia
1 baby with maple surpe urine diasease MSUD
1 baby with 3methylcorotonyl CoA carboxylase deficiency MCC
Eqbal Sarkhouh Chief Technician
Ahmed Al Ahmed Lab Technician
Eman A.Karim Lab Technician
Sadeq Sarkhouh Lab Technician
Iqbal Baig Lab Technician
Benson Stanly Thypattle Lab Technician
Ghadeer Al Otaibi Lab Technician
Nawaf Al Qashim Lab Technician
Adnan Lab Technician
Wali Sayed Lab Technician
Shigo Pallissery Lab Technician
Nawal Al Hashash 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
Lab Team
Muzaffar Ali Baig Lab Technician
Heba Bu Hamad Lab Technician