NEWBORN SCREENING PANEL – 50 METABOLIC DISORDERS BY MASS SPECTOMETRY
FOR DETAILS, CONTACT 800 AVIVO (28486)
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:
– 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