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About Newborn Screening Tests

© Maurenne Griese

QUESTION: In our last class, my childbirth educator was talking about special lab testing for babies that are done in the hospital. She said the tests check for several serious diseases. What does this involve and what can we expect?

ANSWER: Newborn screening tests are mandated in all states, but the components of the newborn screen vary from state to state. Phenylketonuria or PKU is screened in all states. The testing involves a small heel prick to obtain a small sample of blood. The sample is then sent to a special lab for the testing. Depending upon what state you give birth in, the tests screen for the following disorders:

Biotinidase Deficiency: Biotinidase Deficiency (not enough of the enzyme biotinidase) leads to seizures, skin infections, hair loss, hearing and vision loss, mental retardation, and possibly coma and death. Giving the baby extra biotin (a vitamin) avoids these problems.

Congenital Hypothyroidism: Congenital Hypothyroidism is caused when a baby is born without enough thyroid hormone. This can lead to poor growth and mental retardation. Giving the baby extra thyroid hormone results in normal growth and development.

Galactosemia: Galactosemia is caused when a baby cannot digest the sugar found in milk. The condition leads to cataracts, liver damage, mental retardation and usually death. Substituting a special formula for milk starting in the first weeks of life helps to avoid these problems.

Homocystinuria: Homocystinuria is caused when a baby is unable to use the amino acid methionine found in proteins of foods. This disorder can lead to mental retardation, seizures and usually death. A special low-protein diet helps to avoid many of these problems.

Maple Syrup Urine Disease: Maple Syrup Urine Disease is caused by a baby's inability to use several aminio acids. The baby's urine smells like maple syrup. This disorder leads to mental retardation, seizures and usually death. A special low protein diet helps to avoid many of these problems.

Phenylketonuria (PKU): Phenylketonuria (PKU) is caused by a baby's inability to use the amino acid phenylalanine. If not treated early, PKU leads to brain and nerve damage and mental retardation. A special low-protein diet beginning in the first weeks of life allows the baby to develop normally.

Babies born with these disorders look completely normal at birth, and may continue to look normal for several days or weeks. By the time a baby with one of these disorders looks sick, brain and nerve damage has already begun.

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