The document outlines Kuwait's newborn screening program, including its history, current status, and future directions. It discusses how the program screens for inherited metabolic errors, using tandem mass spectrometry to test for 22 disorders. From 2015-2018, over 225,000 newborns were screened, identifying 274 cases. The program aims to expand screening by incorporating next-generation sequencing and increasing public awareness.

1. Newborn Screening for IEM in Kuwait:
Present and Future
Dr. May R. H. Al-Rushood
Clinical Biochemistry and Metabolic Medicine.
Newborn Screening Laboratory.
Kuwait Medical Genetic Center.

2. Kuwait National Newborn Screening Program

3. NBS IN KUWAIT

4. Outlines:
• Importance of Newborn Screening programs.
• Kuwait NBS Program as compared to other NBS programs.
• OUR National NBS :
multidisciplinary, policies, and statistics.
• The future of IEM NBS.

5. What is the purpose of newborn screening programs ?
To detect potentially disabling conditions as early as possible,
Before the infant displays any signs or symptoms of the condition
Such early detection allows treatment to begin immediately
Which if left untreated might lead to lifelong consequences.
Significant public health burden.

6. The power of NBS programs….
• Can detect the condition in AFFECTED PEOPLE.
• Before the signs and symptoms appear.
• NORMAL babies.

7. The power of NBS programs….

9. NBS PROGRAMS ARE MULTISCIPLINARY:
• NBS LABS
• CONFIRMATORY LABS
• PEDIATRIC CLINICS
• METABOLIC SPECIALISTS
• ENDOCRINOLOGY SPECIALISTS
• ADMINISTRATIOANAL INPUTS
• GENETIC SPECIALISTS
• OBSTETRIC DEPARTMENTS
• MATERNITY WARDS

10. NBS PROGRAMS ARE MULTISCIPLINARY:

11. What IEM diseases to include in the screening list ?
Criteria

12. Wilson and Junger classic screening criteria (1968)*

13. WHO MODIFIED SCREENING CRITERIA IN 2008*

14. Kuwait Newborn Screening from
october 2014 till now:

15. Advancement in technology allows expansion of
newborn screening
• 1963: Guthrie test: One test/One disease (time consuming)
• 1990s many tests done per run (tandem mass spectrometry).
TAT improved
Success in detecting the affected asymptomatic babies.

16. Tandem mass spectrometry..
• Since 1990s, the application of TMS has allowed expansion of NBS
programs. Because of its sensitive, specific nature and its ability to
analyze dozens of metabolites simultaneously. ( Ombrone et al., 2016).
• NBS has advanced to one comprehensive and complex screening
system from a simple blood or urine screening test and can detect
over 50 different IEM diseases ( Therrell et al., 2015)

17. • One of the most important innovations made was the application of
TMS ( Villoria et al., 2016; Wangner et al., 2016).
• TMS makes possible the simultaneous measurement of several
metabolites and, consequently, the detection of several diseases in
one blood spot and in unique analysis ( Villoria et al., 2016; Wangner et al., 2016).
• With the application of TMS, an increasing number of inherited
diseases have been discovered and recognized

18. IEM diseas
• IEM mostly follow an autosomal recessive inheritance pattern.
• The clinical manifestations of IEM are complex and highly variable.
• It is difficult for clinician to interpret the screening results of IEM
because it involves many indicators and ratios ( La Marca., 2014).
• Therefore, a further diagnosis of suspected positive children by TMS
is very important.

19. Confirmatory tests
• All Screening tests should be followed by diagnostic (confirmatory)
tests.
• In Sabah main lab and Ibn Sena chemistry lab (TMS and other
chemical tests)

20. History of newborn screening in Kuwait:*
• 1965- screening for Phenylketonuria (PKU) as a pilot study.
• 1978 – Screening for congenital hypothyroidism (CH) as a pilot study.
• 2005 – Screening of PKU and CH start in Kuwait Medical Genetic Center
after receiving DELFIA system.
• 2007 – Screening of PKU, CH, 17OH progesterone, Galactosemia and
biotindase deficiency started in Kuwait Medical Genetic Center after
receiving DELFIA system. No defined program yet.
• End of 2014 – the national Screening program was launched with 22
diseases.
• * Kuwait NBS standards operating policy, revised in 2017.

21. NUMBER OF NB DISORDERS SCREENED AT KMGC:
0
5
10
15
20
25
2005 2007 2014 ( INTRODUCING TANDEM MASS
SPECTROMETRY
0
Chart Title
Series 1 Series 2 Series 3

22. How many disorders do we have to screen for?
• What is the right number??

23. NBS list of diseases:
• It is well known that inherited metabolic diseases encompass a large
group of rare genetic diseases, and their spectrum and incidence
differ greatly among populations.
• There is no agreement in the world on the number of diseases that
should be screened. Different countries use different screening
strategies. ( Yang Y et al., 2019).
• Revealing the local disease spectrum will be useful for planning NBS
programs.

24. RUSP/ USA:
What disorders are newborns screened for in the United States?
The Advisory Committee on Heritable Disorders in Newborns and
Children (ACHDNC) issues a Recommended Universal Screening Panel
(RUSP) that identifies a number of core conditions—those for which
screening is highly recommended—and secondary conditions, for
which screening is optional.
*The Advisory Committee on Heritable Disorders in Newborns and Children (report to congress 2013-2017).
*https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/disorders

25. RUSP:
As of November 2016, the RUSP included 34 core conditions and 26
secondary conditions.
On July 2, 2018 Spinal Muscular Atrophy was added to the RUSP,
bringing the total number of core conditions on the list to 35.

26. RUSP/USA:
• While all states require newborn screening for every infant, the
number of conditions on state screening panels varies.
*The Advisory Committee on Heritable Disorders in Newborns and Children (report to congress 2013-2017)
*https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/disorders

29. Number of screened disorders:
0
5
10
15
20
25
30
35
40
45
50
Kuwait USA UK KSA
Chart Title
Series 1 Series 2 Series 3

30. Kuwait Newborn Screening from
October 2014 till now:

32. Newborn screening in KSA launched 2005: Screen for 16 disorders.*
* Alfadhel M, Al Othaim A, Al Saif S, Al Mutairi F, Alsayed M, Rahbee.expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders. J Paediatr
Child Health. 2017 Jun;53(6):585-591.

33. Distribution of the detected cases and incidence of each screened disorder.
Kuwait NBS (2015-2018) our statistics:
Total of samples screened 225,605.
22 disorders are screened.

34. Kuwait NBS 2015-2018*
• About 225,605 newborns were screened.
• 274 cases were confirmed.
• Incidence rate: 1: 823 newborns.
• 16 hospitals are included.
• Screen for 22 diseases
*NBS statistics 2018

36. External quality control and proficiency testing
• Participate in CDC programs:
 EQC
 PROFINCIENCY TESTING

40. 2018

41. 2018

43. Awareness:
• Meetings
• Public education: malls, schools, polyclinics.
• Brochures
• TV programs

44. Public education and campaigns

45. The future of NBS
• Further advancement in technology is expected to allow continuous
expansion of newborn screening. ( Elhattab et al., 2017)

46. Next - Generation Sequencing in NBS FOR IEM
• Detection of diseases-caused genes variant could contribute to IEM
diagnosis. (Yang Y et al., 2019).
• NGS technology has gradually become of prime importance in the
field of genetic diagnosis. It can sequence millions of DNA molecules
simultaneously and be adapted to many aspects of biomedical
research. ( Xuan et al., 2013; Thyagarajan, 2017),
• NGS can be used for the diagnosis of high –risk infants found by TMS.
So that children with positive screens confirmed by genetic
confirmation ( Thyagarajan, 2017 ; Yang Y et al., 2019 ).

48. Yang Y et al., 2019

49. Take home message
• NBS is an important public health program for improving children’s health.
• There is no agreement in the world on the number of diseases that should be screened.
• Different countries use different screening strategies
• One of the most important innovations made was the application of TMS. (Villoria et al., 2016; Wangner et
al., 2016).
• NGS can be used for the diagnosis of high –risk infants found by TMS.
• The National Newborn Screening Program in the State of Kuwait is important public preventive service
provided by MOH.
• It is wise to understand the future needs of the program as the population grows.