Newborn screening involves laboratory tests, diagnostics, and therapeutic measures aimed at pre-symptomatically identifying infants affected by frequent, severe but usually treatable conditions. It has become one of the best accepted preventive pediatric procedures. The screening is a combination of taking a blood sample from infants 2-5 days after birth, testing the sample for various disorders like phenylketonuria, congenital hypothyroidism, and galactosemia, and reporting or recalling babies based on the results within 10 days for optimal health monitoring. Timely sample collection, shipping, laboratory work, and reporting of results is important for newborn 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 )