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

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

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.

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

Use capillary blood from heelFill in all five circlesApply blood to only one side of the filter paperDry Flat at least 3 hoursMail to state laboratory within 24 hours of Collection

Use capillary blood from heelFill in all five circlesApply blood to only one side of the filter paperDry Flat at least 3 hoursMail to state laboratory within 24 hours of Collection

Warm foot for 3 – 5 minutes to increase blood flow

Cleanse site with alcohol Air dry or wipe dry with sterile gauze pad Puncture heel with lancet of no more than

2.0mm in depth Wipe away first drop of blood Apply gentle pressure to allow a large drop of

blood to form Lightly touch filter paper to large drop of blood Allow blood to soak through to completely fill the

circle

Warm foot for 3 – 5 minutes to increase blood flow

Cleanse site with alcohol Air dry or wipe dry with sterile gauze pad Puncture heel with lancet of no more than

2.0mm in depth Wipe away first drop of blood Apply gentle pressure to allow a large drop of

blood to form Lightly touch filter paper to large drop of blood Allow blood to soak through to completely fill the

circle

Front

Back

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

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

Causes• something spilled onthe filter paper or it wasset on a wet surfaceprior to or after theapplication of blood

Causes• something spilled onthe filter paper or it wasset on a wet surfaceprior to or after theapplication of blood

Prevention• protect the filter paperfrom coming in contactwith hands or othersubstances before andafter blood collection

Prevention• protect the filter paperfrom coming in contactwith hands or othersubstances before andafter blood collection

Causes• Improper use of capillarytubes and other collectiondevices• Pressing the heel against thefilter paper when obtainingthe screening sample.

Prevention• Avoid touching the filter paperwith heel or collection device

Causes• Improper use of capillarytubes and other collectiondevices• Pressing the heel against thefilter paper when obtainingthe screening sample.

Prevention• Avoid touching the filter paperwith heel or collection device

Causes• Multiple applications of bloodto the same circle• Blood applied to both sides ofthe filter paper• Unevenly distributed blood• Circles of blood touch oroverlapPrevention• Allow one large drop to soakthrough and fill the entirecircle• Apply blood to only one side• Apply blood in circle only

Causes• Multiple applications of bloodto the same circle• Blood applied to both sides ofthe filter paper• Unevenly distributed blood• Circles of blood touch oroverlapPrevention• Allow one large drop to soakthrough and fill the entirecircle• Apply blood to only one side• Apply blood in circle only

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.

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

Ion Exchange Chromatography -amino acids

Gas chromatography – mass spectrometry –

organic acids, acyl glycine

DNA Testing

Enzyme Assays

These second tier tests are performed to prevent the false positive tests