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Well Check-Ups
Newborn Screen



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Contributors Yingshan Shi, MD		The page started on 01/02/2009, Updated on 01/03/2009

Neonatal Metabolic Screening
(Newborn Screening)

General Information

Newborn screening is the tests routinely administered to nearly all newborns to detect preventable serious medical problems.
Newborn screening began in 1960s, including a test for phenylketonuria.
Now universal screening is available and required in all 50 states. The specific screening tests performed vary among the states.

How to test

A heel-prick is usually used to collect a few drops of blood which are blotted on a special paper. The blood specimen will be sent to state public health laboratory for testing.
If the test is abnormal, doctor will order the further tests to confirm the diagnosis because the newborn screen is not a diagnostic test.
Newborn screening is most accurate after we have received at least 24 hours of breast milk or formula. If you take us home from the hospital sooner than 24 hours after birth, we should have another screening test in our doctor’s office.

Newborn screening tests may include:

Diseases		Left untreated
Phenylketonuria (PKU)	Inherited disease 1 in 12,000 births in the USA	Mental retardation Developmental delay
Congenital hypothyroidism	low thyroid hormone 1 in 3,500 births in the USA	Mental retardation Poor growing
Galactosemia	Inherited disorder 1 in 60,000 births in the USA	Liver and brain damage in the 1 st weeks of life.
Sickle cell disease	Inherited disorder Most in African-Americans, 1 in 400-1,400 births in the USA	Severe anemia, pain crisis, severe infection, blood clots, stroke or other problems
Congenital adrenal hyperplasia	Inherited disease of the adrenal glands 1 in 15,000 births in the USA	Severe dehydration and electrolyte imbalance.
Biotinidase deficiency	Inherited disorder 1 in 150,000 babies in the United States	Abnormal growth and development
Homocystinuria	Inherited disorder 1 in 335,000 babies in the United States	Mental retardation, bone disease, and blood clots
Cystic fibrosis (CF)	1 in 4,000 babies in the United States	Produces thick, sticky mucus damages lungs and other organs, and poor growing

Some states are using a new testing technique called tandem mass spectrometry (MS/MS) which can screen more than 30 disorders using a simple blood sample.

	More Information

	Check Newborn Screen Results - call IL Health Dept. Lab at 217.785.8101