Expanded Newborn Screening

Question 1

Key factors in universla screening

Answer 1

Religion, autonomy, and public health

Question 2

Criteria for screening

Answer 2

Important
Accepted tx 
Facilities 
Early latent stage 
Suitable test
Acceptable to pop
Nautral history understood 
Consensus on who to treat 
Cost less than or equal to cost of med care
Continous program

Question 3

Aims of NBS

Answer 3

ID serious disorders with no outward signs of being present but which can be treated to minimize or prevent conseuqneces
Prevent serious probs

Question 4

MCAD diagnosis

Answer 4

Use MS and should see increased C8

Question 5

immediately

Answer 5

FA oxidation

Question 6

24 hours

Answer 6

AA abnormalities

Question 7

3-5 days

Answer 7

Endocrine disorders

Question 8

What is important about punching?

Answer 8

Assign number FIRST

Question 9

Notification

Answer 9

Best to contact PCP and tell him to inform family of instructions…PCP tells fam that specialist will call…then specialist call

At UK, we call family, then PCP

Question 10

Require immediate followup

Answer 10

FA deects
GA-1
Urea cycle

Question 11

One result adequate

Answer 11

Biotinidase or galactosemia

Question 12

Summer effect of FA

Answer 12

More false positive in the summer

Question 13

Hyperammonemia could mean

Answer 13

FA
AA
UC

Question 14

What needs structures present in order to be formed?

Answer 14

Centrioles, mitochondria, peroxisomes

Question 15

Genes of mitochondria

Answer 15

2 for rRNA , 13 for ETC, 22 for rTNA

Question 16

Branched chain FAs

Answer 16

In peroxisome via alpha oxidation

Question 17

VLCAD and MCADs

Answer 17

C22-C14

C12-C6

Question 18

Free FA cause

Answer 18

Lethargy, vomiting, and death

Question 19

Omega oxidation

Answer 19

Occurs in p450 system on liver…can happen if you can’t undergo beta

Question 20

If you restest MCAD later

Answer 20

Might be negative…need to test early on

Question 21

Important urea cycle cofactor

Answer 21

NAG

Question 22

If newborn lethargic, think

Answer 22

Sepsis
Congenital heart failure
Metabolic dz

Get ammonia level is testing for sepsis

Question 23

If elevated ammonia and ketones

Answer 23

Not FA

Question 24

Citrulline indicator

Answer 24

If low, then more proximal (OTC)

If high, then more distal

Question 25

Thyroid function tests

Answer 25

TSH-T4...female babies mascularized

Question 26

Adrenal function tests

Answer 26

Congenital adrenal hyperplasia

Question 27

Hemoglobinopathies

Answer 27

SS, SC, Bthal

Question 28

CF test

Answer 28

Immunoreactive trypsinogen...also would be high if you are carrier...use mutation analysis

Question 29

POC testing

Answer 29

Hearing loss (intervention within 6 months), Congenital heart dz, Pulse oximetry

Question 30

Krabbe dz

Answer 30

Sphingolipid breakdown

Question 31

tx for pompe

Answer 31

ERT

Question 32

Tx for MPS type 1 and Krabbe dz

Answer 32

Stem cell transplant

Question 33

NBS review

Answer 33

Serious condition Good screening test Intervention Coordinated systme

Question 34

Glycine encephalopathy

Answer 34

Lethal condition

Question 35

DMD

Answer 35

Non-treatable condition

Question 36

Krabbe

Answer 36

Favored dz

Question 37

Screening should be

Answer 37

Universal and connected to system that provides education

Question 38

Screening should NOT be

Answer 38

Driven by tech

Question 39

Screening is

Answer 39

INvasive and intrusive