Newborn Screening Flashcards
What are the two types of hearing screens available
Automated auditory brain stem response and otoacoustic emissions
Where are the two places to take a pulse ox
Right foot or right hand
What are the point of care tests
Pulse ox and hearing screen
What are the tiers in the two tier approach to newborn screening
Survey and evidence based analysis
What are the general principles of the Wilson-Jungner principles
Public health problem Natural hx of condition Early detection Early tx Early stage testing Test is acceptable Risk is less than benefits Cost is balanced
How soon should you perform the newborn screening
24-48 hours
What is the treatment of fatty acid oxidation disorders
Lab work, nutrition, low-fat, high carb diet, carnotite supplements, Don’t fast!!
What is the classification of fatty acid disorders
Enzyme deficiency
What is the MCAD enzyme deficiency
Beta oxidation of fatty acids
What are the sx of MCAD
Vomiting, hypoketotic hypoglycemia, met acidosis, lethargy, FTT, hepatomegaly
What is the tx of MCAD
Frequent feeds, avoid fasting
Ssx of organic acid disorders
Hypoglycemia, ketoacidosis, feeding intolerance, vomiting, dehydration, lethargy, blood ammonia increased, ketouria, hypotonia, seizures, coma, death
Treatment of organic acid disorders
Low protein diets, medical formulas, avoid fasting
What is the treatment of amino acid disorders
Treatment of these disorders involve nutritional mgmt with restrictions of specific amino acids
What is the way to perform a newborn screen?
Heel stick
What is phenylketonuria inherited
Autosomal recessive
How is phenylketonuria screened for
Increased phenylalanine, increased ratio of phenylalanine to tyrosine
Treatment of phenylketonuria
Diet restriction of phenylalanine and close monitoring
Ssx of congenital hypothyroidism
Jaundice, excessive sleep, feeding intolerance, constipation, hypotonia, pallor, tongue edema, periorbital edema, delay fontanelle closure
Treatment of congenital hypothyroidism
Thyroxine daily
Ssx of congenital adrenal hyperplasia
Ambiguous genitalia, lethargy, vomiting, poor feeding, dehydration, adrenal crisis
Treatment of congenital adrenal hyperplasia
Hydrocortisone, mineralocorticoids,
How soon should a parent be contacted in galactosemia
With in 12 hours
Ssx of galactosemia
Jaundice, feeding intolerance, vomiting, lethargy, bulging fontanelle, bleeding, gram negative sepsis
