By Dr. Amir Abdelazim

Bachelor in med. &surg. -Egypt

MS . clinical pathology –Egypt

Egyptian fellowship

Newborn screening laboratories

Newborn screening (NBS) is a population-

based, preventive public health program

carried out in many countries throughout

the world

Newborn screening

Newborn screening is a public

health system made up of many

different yet integral parts

Newborn screening

Diagnosis

Screening

Management

Evaluation

Education

The primary goal of newborn

screening is the early

identification of affected

infants in time to prevent

serious health problems.

Newborn screening

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 ?

A suffering Maple Syrup Urine Disease Can you imagine having a twin MSUD babies?

Newborn screening

Newborn screening

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

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

Most of diseases included in the screening program

are autosomal recessive

Newborn screening

Technique

DELFIA :

Dissociation Enhanced Lanthanide Flurescence Immunoassay

Arrived in : 2005

Tandem ms/ms :

Electrospray double mass-spectrophotometer

Arrived : 2014

Newborn screening

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

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

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

The ideal sample should be collected

between (48-72hour) of age .

Newborn screening

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

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

Specimen Collection

Newborn screening

procedure

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Newborn screening

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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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Newborn screening

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Interpretation of results

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”).

Newborn screening

low

risk

No

action

= negative screening

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

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

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

Newborn screening

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Confirmatory samples send from NSOs

to Al-Sabah metabolic & hormonal labs

at the NBK hospital

Our statistic

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

Newborn screening

By increase awareness more

coverage to newborn inside Kuwait

year by year until we reach

100%