newborn screening

Question 1

goal of newborn screening

Answer 1

identifies infants with treatable disorders, which may otherwise go unrecognized, to prevent adverse outcomes

Question 2

WI NBS program screens for what 3 things

Answer 2

• Hearing loss
• 48 diff conditions via dried blood spot
• critical congenital heart dz

Question 3

• severe cognitive disabilities
• behavior probs, psych issues
• white matter hyperintensitieis
• seizures
• eczema; decreased pigmentation
• mousy or musty odor

these decribe clinical presentation of what?

Answer 3

untreated PKU

Question 4

• severe cognitive disabilities
• behavior probs, psych issues
• white matter hyperintensitieis
• seizures
• eczema; decreased pigmentation
• mousy or musty odor

these decribe clinical presentation of what?

Answer 4

untreated PKU

Question 5

3 ways to tx PKU

Answer 5

• restrict phenylalanine by restricting protein
• sapropterin dihydrochloride (Kuvan)
• large neutral aminoacids

Question 6

3 ways to tx PKU

Answer 6

• restrict phenylalanine by restricting protein
• sapropterin dihydrochloride (Kuvan)
• large neutral aminoacids

note that phenylalanine is in diet coke

Question 7

isoelectric focusing gels are used to screen for ???

Answer 7

hemoglobinopathies

Question 8

technology used to screen for
* hypothyroidism
* congenital adrenal hyperplasia
* cystic fibrosis (1st titer)

Answer 8

immunoassay

Question 9

tandem mass spectrometry is used to screen for???

Answer 9

inborn errors of metabolism

Question 10

to screen for CF, SCID and SMA, you can use what technology

Answer 10

molecular technology

Question 11

what does new born screening assess

Answer 11

RISK for a disease
all screening positive needs to be confirmed w/ more testing

Question 12

• Jaundice
• Sleeping longer/more often
• Constipation
• Hypotonia
• Swelling around eyes and tongue
• Delayed growth and weight gain
• Eventual learning/developmental disabilities

these are clinical presentation for what

Answer 12

primary congenital hypothyroidism

Question 13

how fast should hypothyroidism be treated to achieve normal growth and development

Answer 13

w/in 10-14 days of life

Question 14

• tired, difficulty breathing
• pain or swelling in hands/feet
• risk for infection or stroke
• cause of death include organ failure and infection

this describes what condition

Answer 14

sickle cell disease

Question 15

• Hydration
• Pain medications
• Antibiotics for infections
• Hydroxyurea
• Blood transfusion may be necessary
• CRSPR gene editing (new)

these are all ways to treat what condition

Answer 15

sickle cell disease

Question 16

• affects anterior horn cells (motor neurons) of spinal cord
• multi-organ involvement
• cause of death is respiratory failure
• most common lethal genetic dz of kids under 2

Answer 16

spinal muscular atrophy (SMA)

Question 16

• affects anterior horn cells (motor neurons) of spinal cord
• multi-organ involvement
• cause of death is respiratory failure
• most common lethal genetic dz of kids under 2

Answer 16

spinal muscular atrophy (SMA)