Newborn Screening Tests


© Tara Kuther

Before your newborn leaves the hospital (and even the delivery room), he or she has already completed a range of tests that assess overall health and screen for various abnormalities of body chemistry.

APGAR

The APGAR is the first screening that your baby undergoes. It is an evaluation of how your baby looks and sounds immediately after birth. Five vital signs (activity, pulse, grimace, appearance, and respiration) are evaluated and rated one minute after birth, and again five minutes after birth. Each vital sign is scored 0, 1, or 2 as follows:

  • Activity, or muscle tone, is scored 0 if there is no activity or the baby is flaccid. A score of 1 indicates some movement of the extremities and a score of 2 indicates active motion.
  • Pulse, or heart rate, is scored 0 if it is absent, 1 if it is slow (below 100 beats per minute), and 2 if it is over 100 beats per minute.
  • Grimace refers to reflex responsivity or irritability. It is rated 0 if there is no response, 1 if the baby exhibits a grimace, and 2 if he or she cries vigorously.
  • Appearance, or color, is rated 0 if the baby is blue or pale, 1 if the body is pink and extremities blue, and 2 if the baby is completely pink.
  • Respiration, or respiratory effort, is scored 0 if it is absent, 1 if it is slow and irregular, and 2 if it is good (the baby is crying).

Ninety percent of infants in the United States receive a score of 7 or higher; a score of 4 or lower is considered to be at risk for resuscitation.

PKU

Phenylketonuria (PKU) is a genetic disorder in which an individual cannot metabolize phenylalanine, an amino acid found in milk and high-protein foods (such as meat). Phenylalanine accumulates in the blood, depriving the brain and body of nutrients. The consequences of PKU are hyperactivity, mental retardation, and eventual death. However, a restricted diet can intervene and avoid these consequences. Because the consequences of PKU are severe, and a large part avoidable, all newborns are screened for PKU within the first few days of birth.

Galactosemia

Babies with galactosemia cannot convert galactose (a sugar found in milk) into glucose (a sugar that the body uses for energy). Untreated, galactosemia causes blindness, mental retardation, and possible death. These consequences can be avoided by eliminating all milk and dairy products from the infant's diet (a special formula, often soy-based, is substituted for milk).

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