States Rated on Birth Defect Testing
Where You Live Determines Which Tests Babies Get
WebMD News Archive
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
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.
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
- 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
- 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
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