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Tests Worth Taking

Many parents don't realize that the number of screening tests a newborn receives varies from state to state. These tests can detect rare but serious health problems that can be treated if caught early. The March of Dimes advocates screening for hearing loss and the following nine metabolic disorders, but only three states provide all ten tests. (To find out what your state tests for, visit the National Newborn Screening & Genetics Resource Center at http://genes-r-us.uthscsa.edu/.) Private screening providers such as the Institute for Metabolic Disease at Baylor University Medical Center (800-4-BAYLOR) can offer these tests if your state doesn't.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

What disorder is it? What the disorder can cause
PKU
(tested for in all states) An enzyme that processes the protein phenylalanine is missing. It affects 1 in 12,000 babies.
Developmental delays; seizures; mental retardation
Congenital Hypothyroidism
(tested for in all states) The thyroid gland doesn't produce enough of the hormone thyroxine. It affects 1 in 4,000 babies.
Developmental delays; lethargy; mental retardation; deafness
Galactosemia
The body is unable to break down galactose, a sugar found in milk products. It affects 1 in 50,000 babies.
Lethargy; feeding intolerance; vomiting; speech, vision, and liver problems
Sickle Cell Diseases
Deformed red blood cells reduce oxygen supply to organs. It affects 1 in 400 African-American babies and 1 in 30,000 Hispanic babies.
Anemia; pneumonia; blood infections; spleen disorders; chronic pain
Maple Syrup Urine Disease
The body does not process three certain proteins properly. It affects 1 in 250,000 babies.
"Sweet" odor to urine; lack of appetite; listlessness; physical and mental disabilities
Homocystinuria
Certain parts of the protein homocysteine can't be broken down. It affects 1 in 275,000 babies.
Developmental and growth delays; eye problems; osteoporosis; mental retardation
Biotinidase Deficiency
An enzyme needed for recycling biotin, a B vitamin, is not present. It affects 1 in 70,000 babies.
Fungal skin infections; seizures; hearing loss; impaired vision
Congenital Adrenal Hyperplasia
The adrenal glands can't make enough of their main hormones. It affects 1 in 5,000 babies.
Drowsiness; vomiting; enlarged female genitalia; growth and reproductive problems
Medium-Chain acyl-CoA Dehydrogenase (MCAD) Deficiency
There is a lack of the enzyme that converts fat into energy. It affects 1 in 15,000 babies.
Seizures, respiratory failure, cardiac arrest, coma, and death if untreated

 

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