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Health & Pregnancy

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States Rated on Birth Defect Testing

Where You Live Determines Which Tests Babies Get

WebMD Health News

June 30, 2004 -- Where you live determines whether your baby gets full testing for birth defects.

Seventeen states routinely conduct all the metabolic birth defect screening tests recommended by the March of Dimes -- and test at least 90% of newborns for hearing problems.

Eight states routinely conduct just the four most basic metabolic birth defect tests on all newborn babies.

Subtle Defects, Big Problems

You can't tell just by looking at a newborn whether his or her little body is working the way it should. If something is wrong with a baby's metabolism -- the chemical changes that take place inside the cells of the body -- problems become obvious only over time.

These problems can be very serious. In some cases, they lead to death. Early detection means early treatment. And early treatment can mean the difference between disability and healthy development.

The March of Dimes recommends that every newborn baby be tested for nine of these metabolic birth defects. The charitable organization also recommends that every baby be tested for hearing defects.

The tests aren't hard to do. A small heel prick yields the few drops of blood needed to test for birth defects. The blood samples usually go to a state lab, and the results are sent to the child's primary care doctor.

Don't panic if the first result comes back positive. The tests are set to make sure no child falls through the safety net. This means that many kids will turn out to be fine on later testing. But when the tests show a problem, early treatment is essential.

Recommended Tests

All U.S. states and territories test for:

  • Phenylketonuria or PKU. Children with PKU can't process a basic substance found in nearly all food. Unless the child is treated, a harmful compound builds up in the child's blood. It causes brain damage and mental retardation. Early detection means the child can be put on a special diet.
  • Hypothyroidism. This hormone deficiency slows a child's growth and brain development. When treated in time, the child can get hormone replacement therapy. This lets the child develop normally.
  • Galactosemia. This problem makes babies unable to gain nourishment from milk, including breast milk. It leads to blindness, mental retardation, and sometimes death. Early detection allows such children to go on a dairy-free diet.
  • Sickle-cell anemia. This painful blood disease can damage vital organs. Early treatment prevents some of the complications. (Note: South Dakota and New Hampshire test only certain populations for this disease).

The March of Dimes also recommends that every child be tested for:

  • Hearing loss
  • Congenital adrenal hyperplasia, or CAH, which causes a defect in the production of hormones from the adrenal glands. This can lead to abnormal development of the genitals and blood pressure problems at a very early age.
  • Biotinidase deficiency, a deficiency of the enzyme that affects normal recycling of biotin (one of the B vitamins). Infants with this defect can develop seizures, developmental delays, and hearing and vision loss.
  • Maple syrup urine disease, a defect in the ability to break down some proteins in the diet of newborns. Infants with the defect can develop seizures and brain damage.
  • Medium-chain acyul-CoA dehydrogenase deficiency (MCAD), which is caused by the lack of an enzyme required to convert fat to energy. Infants with this defect can develop low blood sugar and coma.
  • Homocystinuria, an inability to digest a protein in foods. Infants with this defect can develop mental retardation, seizures, bone abnormalities, and blood clots.

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