Newborn Screening

Newborn Screening is a topic covered in the Davis's Lab & Diagnostic Tests.

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NBS, newborn metabolic screening, tests for inborn errors of metabolism, early hearing loss detection and intervention for newborns.

To evaluate newborns for congenital abnormalities, which may include hearing loss; identification of hemoglobin variants such as thalassemias and sickle cell anemia; presence of antibodies that would indicate an HIV infection; or metabolic disorders such as homocystinuria, maple syrup urine disease (MSUD), phenylketonuria (PKU), tyrosinuria, and unexplained physical or intellectual disabilities.

Patient Preparation
There are no food, fluid, activity, or medication restrictions unless by medical direction.

Normal Findings
Method: Thyroxine, TSH, and HIV—immunoassay; amino acids—tandem mass spectrometry; hemoglobin variants—electrophoresis.

Hearing Test
AgeNormal Findings
Neonates–3 daysNormal pure tone average of –10 to 15 dB
Thyroid-Stimulating Hormone (TSH)
AgeConventional UnitsSI Units (Conventional Units × 1)
Neonates–3 daysLess than 40 micro-international units/mLLess than 40 milli-international units/L
Thyroxine, Total
AgeConventional UnitsSI Units (Conventional Units × 12.9)
Neonates–30 days5.4–22.6 mcg/dL69.7–291.5 nmol/L
HemoglobinopathiesNormal Hemoglobin Pattern
Blood spot amino acid analysisNormal findings. Numerous amino acids are evaluated by blood spot testing, and values vary by method and laboratory. The testing laboratory should be consulted for corresponding reference ranges.
Infectious diseaseNormal Findings
HIV antibodiesNegative

Critical Findings and Potential Interventions

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