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