Newborn screening involves testing newborns for treatable genetic and metabolic disorders. It is a public health program that aims to identify affected infants early to prevent health problems. The document discusses the goals and components of newborn screening programs, including the diseases tested for, sample collection procedures, screening techniques, result interpretation, and confirmatory testing. It provides statistics on the increasing number of babies screened in Kuwait over recent years, from around 3,000 in 2005 to over 31,000 in 2014.

1. By Dr. Amir Abdelazim
Bachelor in med. &surg. -Egypt
MS . clinical pathology –Egypt
Egyptian fellowship
Newborn screening laboratories

2. Newborn screening (NBS) is a population-
based, preventive public health program
carried out in many countries throughout
the world
Newborn screening

3. Newborn screening is a public
health system made up of many
different yet integral parts
Newborn screening
Diagnosis
Screening
Management
Evaluation
Education

4. The primary goal of newborn
screening is the early
identification of affected
infants in time to prevent
serious health problems.
Newborn screening

5.  To help children to have the best start in life
through timely newborn screening, early diagnosis and
treatment.
 The cost of missing one of these conditions is immense
, both in human suffering and in financial terms.
 Untreated infants can develop mental retardation,
serious health problems, or even die,
sometimes without a diagnosis
Newborn screening
Why ?

6. A suffering Maple Syrup Urine Disease
Can you imagine having a twin MSUD babies?
Newborn screening

7. Newborn screening

8. Newborn screening
 Aminoacidopathies
ASA,CIT,PKU,MSUD,HCYS,TYR-1
 Organic Acidemias
MMA,PPA,MCD,MCC,IVA,PKT
,GA1,HMG
Fatty Acid Oxidation Defects
MCAD,VLCAD,LCHAD,TFPD
 Congenital hypothyroidism
Congenital Adrenal Hyperplasia
Galactosemia
Biotinidase Deficiency
Panel of
22
disorders
By Tandem
ms/ms
By DELFIA
system
4
18

9. Criteria of diseases selected (WHO 1960)
• The condition should be an important health problem.
• There should be an accepted treatment for patients with recognized disease.
• Facilities for diagnosis and treatment should be available.
• There should be a recognizable latent or early symptomatic state.
• There should be a suitable test or examination.
• The test or examination should be acceptable to the population.
• The natural history of the condition, including development from latent to
declared disease, should be adequately understood.
• There should be an agreed policy on whom to treat as patients.
• The cost of case finding (including diagnosis and treatment of patients
diagnosed) should be economically balanced in relation to possible expenditure
on medical care as a whole.
• Case-finding should be a continuing process and not a “once and for all”
project.
Newborn screening

10. Most of diseases included in the screening program
are autosomal recessive
Newborn screening

11. Technique
 DELFIA :
Dissociation Enhanced Lanthanide Flurescence Immunoassay
Arrived in : 2005
 Tandem ms/ms :
Electrospray double mass-spectrophotometer
Arrived : 2014
Newborn screening

12. Criteria for technique selection :
Acceptable sample collection and transportation.
Rapid (turn around time).
Sensitive ( very low false negatives).
Specific ( very low of false positives).
Cheap ( cost-effective).
Newborn screening

13. Newborn screening
 1963: Guthrie test: One test/One disease
Sample prep: two hours
Manual Sample analysis: 48 hours
High False positive and false negative results
 1994:ESI-MS/MS test: One test/30 diseases
Sample prep: two hours
Automated Sample analysis: 2 minutes
Low false positive and false negative results

14.  Please use the term “Newborn Screen.” The
term “Genetic test” is confusing.
Newborn screening
NBS has usually referred to biochemical testing for
inherited “metabolic” disorders, that are correctable
by dietary or drug intervention

15. The ideal sample should be collected
between (48-72hour) of age .
Newborn screening

16. Early discharge
Before 24 hrs. there are false positive TSH , 17OH
progesterone & MMA/PPA
Also false negative PKU & TYR1
Otherwise refusal of parents to come back to the hospital
Newborn screening

17. Newborn screening
If the baby discharge
before 24 hrs. of age
provide them with a
referral form to the
Newborn Screening
office to collect
another
Premature baby
<33 week,<1.8kg
Collect fist sample
48-72 hrs of age
Then collect 2nd
sample after 2 weeks
Then collect 3rd
sample after 4 weeks

18. Specimen Collection

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procedure

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28. Newborn screening
Al-adan
hospital
Al-jahra
hospital
Farwanyia
hospital
maternity
hospital
private
hospitals
Collected samples send to newborn screening labs
at Kuwait Medical Genetic Center

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32. Interpretation of results

33. Newborn screening
Samples screened
for 22 disorder
through Tandem
and DELFIA
technique
High
risk
low
risk
The results of the screening tests are reviewed by a
biochemistry consultant in Al-sabah laboratory to
determine if the infant has :
A lower risk of having a disease (“screen negative”) or
A higher risk of having a disease (“screen positive”).

34. Newborn screening
low
risk
No
action
= negative screening

35. Newborn screening
High
risk
The positive results repeated two times
before informed to newborn screening
offices
If confirmed as positive screen reports send
to NSOs to evaluate the baby clinically and
collect confirmatory samples
DELFIA
REPORT
TMS
REPORT

36. Screening is a semi-quantitative test affected by
several issues e.g.
 quality of the blood spot,
 time of sample collection,
 quality of sample prep,
 condition of instrument diet of baby,
 birth weight,
 gestational age,
 & others….
Newborn screening

37. It is important to highlight that
Screening does not cover all metabolic diseases and
that diagnosis is presumptive
screening may yield false-negative or false-positive
results
It is very important to indicate that a firm
diagnosis can only be reached after confirmation
Confirmatory testing can be done by same
technology or different approach on blood spot,
urine, plasma…
Newborn screening

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Confirmatory samples send from NSOs
to Al-Sabah metabolic & hormonal labs
at the NBK hospital

41. Our statistic

42. Total number of filter papers received for screening
in Kuwait each year from 2005 to 2014
Newborn screening
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
0
5000
10000
15000
20000
25000
30000
35000

43. Newborn screening
By increase awareness more
coverage to newborn inside Kuwait
year by year until we reach
100%