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Newborn Screening for Genetic & Metabolic Disorders

Fragile_X_400Newborn screening tests look for developmental, genetic, and metabolic disorders in the newborn baby. This allows steps to be taken before symptoms develop. Most of these illnesses are very rare, but can be treated if caught early.

Newborn screening is a designed to screen infants shortly after birth for a list of conditions that are treatable, but not clinically evident in the newborn period. Some of the conditions included in newborn screening programs are only detectable after irreversible damage has been done, in some cases sudden death is the first manifestation of the disease. Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the jurisdiction. The number of diseases screened for is set by each jurisdiction, and can vary greatly. Most newborn screening tests are done by measuring metabolites and enzyme activity in whole blood samples collected on specialized filter paper, however many areas are starting to screen infants for hearing loss using automated auditory brainstem response and congenital heart defects using pulse oximetry. Infants who screen positive undergo further testing to determine if they are truly affected with a disease or if the test result was a false positive. Follow-up testing is typically coordinated between geneticists and the infant’s pediatrician or primary care physician.

Screening tests do not diagnose illnesses. They show which babies need more testing to confirm or rule out illnesses.If follow-up testing confirms that the child has a disease, treatment can be started, before symptoms appear.

Screening tests are used to detect a number of disorders. Some of these include:


What is Newborn Metabolic Screening?

Newborn Metabolic Screening Services detect selected metabolic and genetic conditions at birth. All infants born in North Carolina are screened at birth for the following conditions;

  • Congenital hypothyroidism (CH).
  • Congenital adrenal hyperplasia (CAH).
  • Hemoglobinopathy disease (e.g., sickle cell).
  • Biotinidase deficiency.
  • Cystic fibrosis.
  • Certain metabolic disorders detectable by “Tandem Mass Spectrometry” (TMS), including phenylketonuria (PKU).