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Medical Genetics > ohio newborn screening > Flashcards

ohio newborn screening Flashcards

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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
Q

what is measured to test for congenital hypothyroidism

A

TSH

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26
Q

what is there a defect in in congenital adrenal hyperplasia

A

cortisol synthesis; most commonly 21-hydroxylase deficiency

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27
Q

inheritance pattern for congenital adrenal hyperplasia

A

autosomal recessive

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28
Q

who is congenital adrenal hyperplasia very common in

A

prematures

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29
Q

what is the analyte measured in congenital adrenal hyperplasia

A

17-OH progesterone

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30
Q

what disorder is weight dependent meaning you need to know the weight to understand the results

A

congenital adrenal hyperplasia

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31
Q

what disorder is different for males and females? Females have verilization and males have cardiac distress

A

CAH

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32
Q

what do babies with PKU look like at birth

A

normal

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33
Q

what can PKU look like if untreated

A

irreversible mental retardation

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34
Q

inheritance pattern of tyrosinemia type 1

A

autosomal recessive

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35
Q

what disorders are screened for with tandem MS/MS techniques

A

PKU, tyrosinemia type 1

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36
Q

what does untreated tyrosinemia type 1 lead to

A

hepatocarcinoma

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37
Q

what is tyrosinemia type 1

A

fumarylacetoacetase enzyme deficiency in tyrosine degradation pathway

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38
Q

what is the analyte measured in tyrosinemia type 1

A

succinylacetone

39
Q

trmt for tyrosinemia type 1

A

NTBC (medication) and liver transplant

40
Q

what is the toxic compound formed in tyrosinemia type 1

A

succinylacetone

41
Q

clinical features of tyrosinemia type 1

A

liver failure, cirrhosis, hepatocellular carcinoma, episodic neuropathy

42
Q

MC metabolic disorder youll see in primary care setting?

A

fatty acid oxidation defects

43
Q

inheritance pattern for fatty acid oxidation defects?

A

autosomal recessive

44
Q

what are fatty acid oxidation defects?

A

disorders involving multiple steps in the degradation pathway of fatty acids in mitochondria

45
Q

what do fatty acid oxidation defects usually present with

A

hypoketoic hypoglycemia and hyperammonemia

46
Q

MC fatty acid oxidation defects?

A

MCAD deficiency

47
Q

why are fatty acid oxidation defects so dangerous?

A

fatty acids can accumulate in the blood and inhibit body from making sugar

48
Q

trmt for fatty acid oxidation defects?

A

dietary fat restriction and L-carnitine

49
Q

baby aspirin increased the number of cases in which disorder

A

fatty acid oxidation defects

50
Q

analyte measured in fatty acid oxidation defects?

A

acylcarnitine ester

51
Q

inheritance pattern in cystic fibrosis

A

autosomal recessive

52
Q

what is cystic fibrosis

A

chloride channelopathy resulting in lethal pancreatic, pulmonary disease

53
Q

analyte measured in cyctic fibrosis

A

immunoreactive trypsinogen (IRT)

54
Q

trmt for cyctic fibrosis

A

support

55
Q

what is the 2nd tier testing of cystic fibrosis

A

DNA testing

56
Q

what does SCID stand for

A

severe combined immune deficiency

57
Q

what does TREC stand for

A

t cell receptor excision circle

58
Q

in this disorder once babies get an infection they usually die

A

SCID

59
Q

how does the lab look at SCID?

A

they use PCR to amplify TREC if its there. If its not there, the babies get sent to immunology for further testing

60
Q

inheritance pattern in spinal musclular atrophy (SMA)

A

autosomal recessive

61
Q

what are most cases of SMA due to

A

homozygous SMN 1 gene deletion (both copies)

62
Q

what can SMA lead to if not treated

A

early lethality from progressive paralysis

63
Q

trmt for SMA

A

medication

64
Q

when must trmt for SMA be started

A

before death of spinal anterior horn cells

65
Q

what is C5OH

A

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
Q

what is C3?

A

a marker for propionic/methylmalonic acidemia that can also be seen in maternal vitamin B12 deficiency, especially in vegans

67
Q

what is C0?

A

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
Q

should you ever draw NBS samples from TPN or IV line

A

NO bc false + may occur

69
Q

what disorder is the timing of sample acquisition very important

A

endocrine, hypothyroidism, CAH, disorders of amino, organic, and fatty acids

70
Q

what disorder is the timing of sample acquisition not important for

A

enzyme assays like biotinidase, galactosemia, LSD, hemoglobin disorders, CF, SMA, DMD, and SCIDS

71
Q

what disorders typically normalize after the 1st week of life so if you dont test for it before hand its hard to catch

A

FAOD

72
Q

who is ethically and legally responsible for follow up NBS results

A

physician of record even if theyve never seen them

73
Q

what happens if a pt cant be located

A

the ODH lab must be notified by phone AND writing

74
Q

what is the MS collaborative project useful for

A

quantitating the degree of a risk and the liklihood of a false positive, although it’s NOT diagnostic

75
Q

cost of NBS in ohio

A

$74.61

76
Q

what does the NBS cost go towards

A

lab tests, regional genetic centers, sickle cell programs, PKU program, CF program

77
Q

does it cost a lot more money for false positives or any alerts

A

YES

78
Q

why are some diseases not tested for in NBS

A

cost, no effective therapy, not common in kids or more in older ppl

79
Q

what type of disorder is pompes disease

A

disorder of lysosomal glycogen degradation

80
Q

what is pompes disorder a deficiency in

A

alpha glucosidase

81
Q

clinical features of pompes

A

progressive hypotonia, cardiomyopathy, respiratory failure, death by age 1 if not treated

82
Q

trmt for pompes

A

enzyme replacement therapy

83
Q

what is the ONLY disorder mandated by legislature to screen for

A

Krabbe disease

84
Q

what is MPS1- hurlers syndrome a deficiency in

A

alpha iduronidase

85
Q

clinical features of hurlers

A

corneal clouding, hepatosplenomegaly, coarse features, macroglossia, joint limitation, valvular heart disease, dysostosis multiplex, deafness

86
Q

trmt for hurlers

A

enzyme replacement therapy (ERT) and BMT

87
Q

inheritance pattern for krabbes

A

autosomal recessive

88
Q

what is there a deficiency in for krabbes

A

galactocerebrosidase enzyme

89
Q

when do infantile cases have symptoms of krabbes

A

before 6 months

90
Q

infantile symptoms of krabbes?

A

irritability, loss of head control, fever, feeding trouble, emesis, muscle spasms, progressing to seizures, atazia, blindness

91
Q

galactolipid accumulation in krabbes is a directly toxic to what

A

myelinated cells

92
Q

what can you see on krabbes MRI of brain

A

severe demyeliation

93
Q

where is gene of krabbes located?

A

14q13 deletion (about a 30 kb deletion)

94
Q

what is pseudodeficiency?

A

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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