HealthWise KnowledgeBase
Genetics
Newborn Screening
Shortly after birth, a blood sample is taken from a newborn to screen for diseases such as Reference phenylketonuria (PKU) Opens New Window and congenital Reference hypothyroidism Opens New Window. This type of testing is important, because treatment is available to improve the health of the child. Newborn screening is required in the United States, but states vary on which tests they offer.
Examples of tests used for newborn screening include:
- Reference Phenylketonuria (PKU) screen, which measures the amount of phenylalanine in a baby's blood. Babies found to have PKU should be put on a special low-protein diet to prevent Reference intellectual disability Opens New Window.
- Reference Cystic fibrosis Opens New Window test. Levels of immunoreactive trypsinogen (IRT), a digestive enzyme, are measured from a newborn's blood sample. Abnormally high levels of IRT suggest cystic fibrosis, although further testing is needed to confirm the diagnosis.
- Reference Hemoglobin test, which tests for types of Reference hemoglobin Opens New Window in a baby's blood that may point to Reference sickle cell trait Opens New Window or Reference sickle cell disease Opens New Window. Babies who have sickle cell disease need special medical care throughout their lives to treat the variety of problems that can be caused by the illness.
Other tests, such as newborn Reference hearing tests, can tell whether a baby may need future hearing services or genetic testing. Approximately 50% of cases of newborn hearing loss are caused by genetic factors.Reference 1
| By: | Reference Healthwise Staff | Last Revised: Reference November 3, 2011 |
| Medical Review: | Reference Sarah Marshall, MD - Family Medicine
Reference Siobhan M. Dolan, MD, MPH - Reproductive Genetics |
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