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ohio newborn screening Flashcards

1
Q

avg annual birthrate in ohio since 1990

A

135,000

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2
Q

how did ohio metabolic NBS program begin

A

they screened for PKU as a trial and then it expanded to a mandated statewide program in 1965

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3
Q

where is the NBS lab in ohio located

A

Reynoldburg

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4
Q

why are most specimens inconclusive

A

sample at less than 24 hrs of age (too early) and time of collection missing

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5
Q

what is not included in the ohio NBS panel

A

nonketotic hyperglycinemia bc its lethal so theres no reason in screening for it

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6
Q

what can ppl with galactosemia not convert

A

glucose to galactose

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7
Q

inheritance pattern of galactosemia?

A

autosomal recessive

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8
Q

trmt for galactosemia?

A

galactose free diet

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9
Q

what is glucose + galactose

A

lactose

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10
Q

what does galactosemia lead to

A

immediate liver damage, sepsis

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11
Q

what disorders does the enzyme assay technique screen for

A

biotinidase deficiency, galactosemia, LSDs (Krabbes, MPSI, Pompe)

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12
Q

what disorders does the isoelectric focusing/capillary HPLC (high performance liquid chromatographies) technique screen for

A

hemoglobinopathies

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13
Q

what disorders does the immunoflourometric technique screen for

A

hypothyroidism, congenital adrenal hyperplasia (CAH), CF

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14
Q

what is the biggest take away from an enzyme assay test

A

you dont need to wait 24 hours to test

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15
Q

what happens if there is an abnormal result in NBS

A

it must be repeated

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16
Q

turn around time for NBS?

A

5 days

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17
Q

biotinidase?

A

enzyme that recycles biotin

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18
Q

inheritance pattern of biotinidase deficiency?

A

autosomal recessive

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19
Q

biotinidase deficiency disorder?

A

disorder of biotin recycling that causes a deficiency in biotin and multiple carboxylase deficiencies (bc biotin is a cofactor for many carboxylase rxns)

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20
Q

trmt for biotinidase deficiency

A

daily biotin supplement which makes the disease basically curable

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21
Q

we do HPLC for hemoglobinopathies rn, but what did we do before?

A

isoelectric focusing but with new technological advances we dont do this anymore)

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22
Q

mc abnormalities on newborn screenings?

A

thyroid diseases (hypothyroidism mainly)

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23
Q

why is it important to get the timing of congenital hypothyroidism screening correct

A

TSH surge occurs shortly after birth and may give a false positive result if sample is obtained in 1st 24 hours

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24
Q

what are positive samples of congenital hypothyroidism reanalyzed for

A

T4

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25
what is measured to test for congenital hypothyroidism
TSH
26
what is there a defect in in congenital adrenal hyperplasia
cortisol synthesis; most commonly 21-hydroxylase deficiency
27
inheritance pattern for congenital adrenal hyperplasia
autosomal recessive
28
who is congenital adrenal hyperplasia very common in
prematures
29
what is the analyte measured in congenital adrenal hyperplasia
17-OH progesterone
30
what disorder is weight dependent meaning you need to know the weight to understand the results
congenital adrenal hyperplasia
31
what disorder is different for males and females? Females have verilization and males have cardiac distress
CAH
32
what do babies with PKU look like at birth
normal
33
what can PKU look like if untreated
irreversible mental retardation
34
inheritance pattern of tyrosinemia type 1
autosomal recessive
35
what disorders are screened for with tandem MS/MS techniques
PKU, tyrosinemia type 1
36
what does untreated tyrosinemia type 1 lead to
hepatocarcinoma
37
what is tyrosinemia type 1
fumarylacetoacetase enzyme deficiency in tyrosine degradation pathway
38
what is the analyte measured in tyrosinemia type 1
succinylacetone
39
trmt for tyrosinemia type 1
NTBC (medication) and liver transplant
40
what is the toxic compound formed in tyrosinemia type 1
succinylacetone
41
clinical features of tyrosinemia type 1
liver failure, cirrhosis, hepatocellular carcinoma, episodic neuropathy
42
MC metabolic disorder youll see in primary care setting?
fatty acid oxidation defects
43
inheritance pattern for fatty acid oxidation defects?
autosomal recessive
44
what are fatty acid oxidation defects?
disorders involving multiple steps in the degradation pathway of fatty acids in mitochondria
45
what do fatty acid oxidation defects usually present with
hypoketoic hypoglycemia and hyperammonemia
46
MC fatty acid oxidation defects?
MCAD deficiency
47
why are fatty acid oxidation defects so dangerous?
fatty acids can accumulate in the blood and inhibit body from making sugar
48
trmt for fatty acid oxidation defects?
dietary fat restriction and L-carnitine
49
baby aspirin increased the number of cases in which disorder
fatty acid oxidation defects
50
analyte measured in fatty acid oxidation defects?
acylcarnitine ester
51
inheritance pattern in cystic fibrosis
autosomal recessive
52
what is cystic fibrosis
chloride channelopathy resulting in lethal pancreatic, pulmonary disease
53
analyte measured in cyctic fibrosis
immunoreactive trypsinogen (IRT)
54
trmt for cyctic fibrosis
support
55
what is the 2nd tier testing of cystic fibrosis
DNA testing
56
what does SCID stand for
severe combined immune deficiency
57
what does TREC stand for
t cell receptor excision circle
58
in this disorder once babies get an infection they usually die
SCID
59
how does the lab look at SCID?
they use PCR to amplify TREC if its there. If its not there, the babies get sent to immunology for further testing
60
inheritance pattern in spinal musclular atrophy (SMA)
autosomal recessive
61
what are most cases of SMA due to
homozygous SMN 1 gene deletion (both copies)
62
what can SMA lead to if not treated
early lethality from progressive paralysis
63
trmt for SMA
medication
64
when must trmt for SMA be started
before death of spinal anterior horn cells
65
what is C5OH
a marker for such as 3 methylcrotonly carboxylase deficiency, a disorder of leucine metabolism. 50% of high risk alerts are due to an affected mother
66
what is C3?
a marker for propionic/methylmalonic acidemia that can also be seen in maternal vitamin B12 deficiency, especially in vegans
67
what is C0?
low free carnitine is the marker for a carnitine uptake disorder which can result in hypoketotic glycemia and cardiomyopathy in newborns. In 50% of cases, mothers are affected with CUD
68
should you ever draw NBS samples from TPN or IV line
NO bc false + may occur
69
what disorder is the timing of sample acquisition very important
endocrine, hypothyroidism, CAH, disorders of amino, organic, and fatty acids
70
what disorder is the timing of sample acquisition not important for
enzyme assays like biotinidase, galactosemia, LSD, hemoglobin disorders, CF, SMA, DMD, and SCIDS
71
what disorders typically normalize after the 1st week of life so if you dont test for it before hand its hard to catch
FAOD
72
who is ethically and legally responsible for follow up NBS results
physician of record even if theyve never seen them
73
what happens if a pt cant be located
the ODH lab must be notified by phone AND writing
74
what is the MS collaborative project useful for
quantitating the degree of a risk and the liklihood of a false positive, although it's NOT diagnostic
75
cost of NBS in ohio
$74.61
76
what does the NBS cost go towards
lab tests, regional genetic centers, sickle cell programs, PKU program, CF program
77
does it cost a lot more money for false positives or any alerts
YES
78
why are some diseases not tested for in NBS
cost, no effective therapy, not common in kids or more in older ppl
79
what type of disorder is pompes disease
disorder of lysosomal glycogen degradation
80
what is pompes disorder a deficiency in
alpha glucosidase
81
clinical features of pompes
progressive hypotonia, cardiomyopathy, respiratory failure, death by age 1 if not treated
82
trmt for pompes
enzyme replacement therapy
83
what is the ONLY disorder mandated by legislature to screen for
Krabbe disease
84
what is MPS1- hurlers syndrome a deficiency in
alpha iduronidase
85
clinical features of hurlers
corneal clouding, hepatosplenomegaly, coarse features, macroglossia, joint limitation, valvular heart disease, dysostosis multiplex, deafness
86
trmt for hurlers
enzyme replacement therapy (ERT) and BMT
87
inheritance pattern for krabbes
autosomal recessive
88
what is there a deficiency in for krabbes
galactocerebrosidase enzyme
89
when do infantile cases have symptoms of krabbes
before 6 months
90
infantile symptoms of krabbes?
irritability, loss of head control, fever, feeding trouble, emesis, muscle spasms, progressing to seizures, atazia, blindness
91
galactolipid accumulation in krabbes is a directly toxic to what
myelinated cells
92
what can you see on krabbes MRI of brain
severe demyeliation
93
where is gene of krabbes located?
14q13 deletion (about a 30 kb deletion)
94
what is pseudodeficiency?
when someone cannot metabolize the artificial substrate to an enzyme but the can metabolize the normal one. so it looks like they have the disease

Medical Genetics (15 decks)

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