2. Newborn screening is the process of testing newborn
babies for treatable genetic endocrinologic, metabolic and
hematologic diseases
These metabolic disorders (Inborn errors of metabolism) interfere with
the body's use of nutrients to maintain healthy tissues and produce
energy.
 These inherited disorders can hinder an infant's normal physical and
mental development in a variety of ways.
 With a simple blood test, these disorders can be diagnosed.
Early diagnosis and proper treatment can make the difference
between lifelong impairment and healthy development

3. Robert Guthrie is the first to identify newborn
screening for phenylketonuria in the late 1960s
Congenital hypothyroidism was the second
disease widely added in the 1970s.
 1965-Phenylketonuria
 1977-Congenital Hypothyroidism
 1984-Galactosemia
 1987-Biotinidase Deficiency, Maple Syrup Urine Disease
& Hemoglobinopathies
 1993-Congenital Adrenal Hyperplasia (CAH)
 2003-Medium-Chain Acyl-CoenzymeA Dehydrogenase
Deficiency
 2004-Citrullinemia, Homocystinuria, Argininosuccinic
Aciduria
 2005-Expanded Screen Pilot
 2006-Screen for more than 48 metabolic disorders
 2007-Cystic Fibrosis

4. A blood samples is obtained from child on the second or third
day of life .
Sample is collected by pricking the heel of a newborn baby to
get enough blood (typically, two to three drops) to fill a few
circles on filter paper
The filter paper will be labeled with names of infant, parent,
hospital, and primary physician
http://www.youtube.com/watch?v=_MuyGk3GrsU

6. Use capillary blood from heel
Fill in all five circles
Apply blood to only one side of the filter paper
Dry Flat at least 3 hours
Mail to state laboratory within 24 hours of Collection

 Warm foot for 3 – 5 minutes to increase blood flow
Warm foot for 3 – 5 minutes to increase blood flow
 Cleanse site with alcohol
 Cleanse site with alcohol
 Air dry or wipe dry with sterile gauze pad
 Air dry or wipe dry with sterile gauze pad
 Puncture heel with lancet of no more than 2.0mm in depth
 Puncture heel with lancet of no more than 2.0mm in depth
 Wipe away first drop of blood
 Wipe away first drop of blood
 Apply gentle pressure to allow a large drop of blood to form
 Apply gentle pressure to allow a large drop of blood to form
 Lightly touch filter paper to large drop of blood
 Lightly touch filter paper to large drop of blood
 Allow blood to soak through to completely fill the circle
 Allow blood to soak through to completely fill the circle

7. Front
Back

8. Causes
Causes
• Waiting too long to apply
• Waiting too long to apply
blood to the filter paper
blood to the filter paper
• Improper use of capillary
• Improper use of capillary
tubes
tubes
• Syringe used for blood
• Syringe used for blood
collection
collection

9. Causes
Causes
• something spilled on
• something spilled on
the filter paper or it was
the filter paper or it was
set on a wet surface
set on a wet surface
prior to or after the
prior to or after the
application of blood
application of blood
Prevention
Prevention
• protect the filter paper
• protect the filter paper
from coming in contact
from coming in contact
with hands or other
with hands or other
substances before and
substances before and
after blood collection
after blood collection

10. Causes
Causes
• Improper use of capillary
• Improper use of capillary
tubes and other collection
tubes and other collection
devices
devices
• Pressing the heel against the
• Pressing the heel against the
filter paper when obtaining
filter paper when obtaining
the screening sample.
the screening sample.
Prevention
Prevention
• Avoid touching the filter paper
• Avoid touching the filter paper
with heel or collection device
with heel or collection device

11. Causes
Causes
• Multiple applications of blood
• Multiple applications of blood
to the same circle
to the same circle
• Blood applied to both sides of
• Blood applied to both sides of
the filter paper
the filter paper
• Unevenly distributed blood
• Unevenly distributed blood
• Circles of blood touch or
• Circles of blood touch or
overlap
overlap
Prevention
Prevention
• Allow one large drop to soak
• Allow one large drop to soak
through and fill the entire
through and fill the entire
circle
circle
• Apply blood to only one side
• Apply blood to only one side
• Apply blood in circle only
• Apply blood in circle only

12. The state health department agency run the mandated screening tests on
the filter paper samples.
 If screens are normal, a paper report is sent to the submitting hospital and
parents rarely hear about it
 If an abnormality occurs, they inform the physician and hospital.
They arrange an evaluation of the infant by an appropriate specialist
physician (depending on the disease).
The specialist will attempt to confirm the diagnosis by repeating the tests
by a different method or by performing other corroboratory tests.
Depending on the diagnosis and the risk of delay, the specialist will initiate
treatment and provide information to the family.

13.  Screening is available for more than 30 disorders
One screening technique, the tandem mass spectrometry (or MS/MS),
can screen for more than 20 inherited metabolic disorders with a single
drop of blood
MS/MS measures the ratio of the mass (m) of a chemical to its charge
(z)
Extraction with methanol to form butyl ester derivatives of amino acid
and acyl carnitine
Injected to mass spectrophotometer
Molecules are ionized and separated based on their M/z ratio
Ions are separated by First MS & Enter collision cell , broken down to fragments
Fragments enter the second ms and separated according to m/z ratio

15. These second tier tests are performed to prevent the false positive tests
Ion Exchange Chromatography -amino acids
Gas chromatography – mass spectrometry – organic acids, acyl glycine
DNA Testing
Enzyme Assays