introduction to new born screening
TRANSCRIPT
NEW BORN SCREENINGNEW BORN SCREENING
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Newborn Screening SystemNewborn Screening System
Newborn Screening has Newborn Screening has become one of the best become one of the best accepted procedures in accepted 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 tests laboratory tests • diagnostics diagnostics • therapeutic measurestherapeutic measures• aiming at a pre-symptomatic recognition of aiming at a pre-symptomatic recognition of
individuals affected by a frequent, severe but individuals affected by a frequent, severe but usually treatableusually treatable
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Wallac Standardized Blood Collection Card Wallac 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 )