NEW BORN SCREENING

1. NEW BORN SCREENINGNEW BORN SCREENING

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Newborn Screening SystemNewborn Screening System
Newborn Screening hasNewborn Screening has
become one of the bestbecome one of the best
accepted procedures inaccepted procedures in
preventive pediatrics.preventive pediatrics.

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Newborn Screening SystemNewborn Screening System
Newborn Screening is a combination of:Newborn Screening is a combination of:
ProceduresProcedures
• laboratory testslaboratory tests
• diagnosticsdiagnostics
• therapeutic measurestherapeutic measures
• aiming at a pre-symptomatic recognition ofaiming at a pre-symptomatic recognition of
individuals affected by a frequent, severe butindividuals affected by a frequent, severe but
usually treatableusually treatable

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Wallac Standardized Blood Collection CardWallac Standardized Blood Collection Card
from S&Sfrom S&S
Wallac

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Sample Collection for…Sample Collection for…
The sample should be taken 2 - 5 days after birthThe sample should be taken 2 - 5 days after birth
Make a puncture with a sterile lancetMake a puncture with a sterile lancet
Collect the sample on the Demographic cardCollect the sample on the Demographic card
Punch a sample into a well with a puncherPunch a sample into a well with a puncher
… Newborn Screening

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Amount of sample typically collected
Typically one bloodspot punched
per test is 3.2mm equal to 3- 4 μl
of blood
1 drop of blood is approx: 35μl

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Collection of sample
Prick by using a
spring system on the
heel to get the blood
Collect a few drops of
blood onto the
collection cassette
Area to Prick

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Shipping of samples
Max 2 Days
The first week after birth
Sample collection 2 – 5
Days (Baby birth weight
should be greater than
2.5kg for 17OHP )
Wallac

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Samples should be sent to the laboratory
every day, independent of how many
collections has been carried out
Sending the samples
Select the system which are
1: Speedy
2: Secure
3: Reliable

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Laboratory work
1-3 Days
The first week after birth
Sample collection
2 – 5 Days
Shipping of samples
Max 2 Days

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The first week after birth
Sample collection
2 – 5 Days
Shipping of samples
Max 2 Days
Laboratory work
1-3 Days
Results reported
or baby recalled
Time is very important in newborn screening. An optimal goal is
to have the process ready by day 10 and quicker if possible

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Newborn Screening - DisordersNewborn Screening - Disorders
Newborn Health
•Phenylketonuria (PKU-
phenylalanine )
•Congenital Hypothyroidism
(TSH- Thyroid stimulating hormone)
•Galactosaemia
(GALT –Galactose -1-phosphate uridyl
transferase )
•Congenital Adrenal Hyperplasia
(17OHP – 17alpha –OH - progesteron)
•Cystic Fibrosis
( IRT – Human immunoreactive trypsin )
•Biotinidase Deficiency (BTD)
•G-6-PD Deficiency
(G6PD- glucose-6-phosphate uridyl
transferase )