Newborn Screening Panel – 50 Metabolic Disorders by Mass Spectrometry
Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren’t otherwise apparent at birth.
Why Newborn Screening?
- Affected babies are identified quickly before symptoms appear.
- Cases of disease are not missed.
- The number of false-positive results is minimized.
- Early treatment can begin, that prevents the negative and irreversible health outcomes for affected newborns.
- Most treatments are inexpensive and may involve the addition of a vitamin to the diet, hormone supplementation, avoidance of certain foods and chemicals or dietary changes
Why Early Detection?
It could lead to lifelong complications, such as:
- Mental Retardation
- Motor Impairment
- Physical Disability
Who to Screen NBS?
- Every Newborn (Routine screening)
- High Risk
- Unexplained deaths of siblings
- Miscarriages & Aborted Fetuses
- Exhibit symptoms of IEMs
- Babies conceived by IVF
- Babies in NICU
- Sick Children
What to Screen
Acylcarnitine Profile (Tandem Mass Spectrometry)
- Fatty Acid Oxidation Disorders
- Organic Acid Disorders
Amino Acid Profile (Tandem Mass Spectrometry)
- Amino Acid Disorders
- Urea Cycle Disorders
Biochemical Screening (Enzyme Assay/Enz. immunoassay) :
- Congenital Hypothyroidism
- Congenital Adrenal Hyperplasia
- G6PD Deficiency
- Cystic Fibrosis
- Biotinidase Deficiency
Blood Sample Collection
Sample: Blood spot is collected in filter paper
- Baby needs to be fed at least 2-3 times before the specimen is taken
- After 24 hours of birth
TAT : 7 days