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MCB1 Block 4 > Genetic Counseling & Screening > Flashcards

Genetic Counseling & Screening Flashcards

1
Q

what is genetic counseling

A

communication dealing with problems associated with genetic disorders

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2
Q

Who is the consultand

A

patient

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3
Q

Consulting is always _____ when counseling the patient

A

non-directive

don’t make the decision for them, just give them information for them to make informed decision

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4
Q

What is the first step in genetic counseling

A

diagnosis

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5
Q

what is the second step in genetic counseling

A

risk assessment

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6
Q

What is the third step in genetic counseling

A

discuss options with patient, non-directive

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7
Q

What is the fourth step in genetic counseling

A

communication & long-term support

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8
Q

What is targeted screening doing

A

looking for those at high risk for disorder (like huntingtons)
indicates a positive family history

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9
Q

what is population screening

A

screening done for all population

low risk

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10
Q

what are the three major types of screening

A

prenatal screening/diagnosis
newborn screening
heterozygote (carrier) screening

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11
Q

what are the two types of prenatal screening/diagnosis

A

noninvasie

invasive

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12
Q

what are the advantages ot noninvasive screening

A

don’t go into uterus, no risk

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13
Q

what are the disadvatnages of noninvasive screening

A

false positives an dnegatives

not always accurate

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14
Q

what are the three noninvasive prenatal screening types

A

FIRST (1st trimester)
Maternal Serum Screening (2nd trimester)
Ultrasound

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15
Q

Should all pregnancies have noninvasive screening

A

yes - new standard of care

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16
Q

What does FIRST stand for

A

First Trimester Integated Screening for Trisomies

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17
Q

when is FIRST performed

A

weeks 11-14

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18
Q

What tests are combined to prform FIRST

A

biochemical analysis of maternal serum
ultrasound
maternal age

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19
Q

what is looked at in maternal serum in FIRST test

A

hCG

PAP-A

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20
Q

what does hCG stand for

A

human chorionic gonadotropin

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21
Q

What does PAP-A stand for

A

pregnancy Associated protein-A

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22
Q

What do they look for in ultrasound for down syndrome in FIRST

A

nuchal translucency

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23
Q

What are the detection rates for Down Syndrome in FIRST

A

80%

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24
Q

What does it mean that FIRST test is standard of care

A

should be offered to all pregnant woman

all insurance should cover

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25
Q

What does maternal serum screen looking for

A

look at levels of proteins in the blood

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26
Q

When is maternal serum screening perofrmed

A

15-20 weeks (it is also perfeomed in first trimester, but some things are only tested for in second trimester)

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27
Q

In second smester what is Maternal Serum Screening testing for in triple Screen Test

A

AFP
uE3
hCG

28
Q

Why is AFP looked at

A

neural tube defects

29
Q

what is advantage of maternal serum screening in second sesmeter

A

tests for nerual tube defects

30
Q

what does testing for uE3 and hCG looking for

A

trisomy 18 & 21

31
Q

What is the quad screen test

A

same as triple screen test of maternal serum screening + tests for Inhibin-A

32
Q

What does AFP stand for

A

alpha-fetoprotein

33
Q

What is the major blood protein in the fetus

A

AFP

34
Q

When there are neural tube defects what happens

A

AFP is released into maternal blood - if it is elevated more than normal strong correlation for NTD

35
Q

When can AFP be measured to truly detecft if there is NTD

A

16.5-17.5 weeks

36
Q

What are the three invasive prenatal diagnosis method

A

chorionic villus sampling
Amniocentesis
Cordocentesis

37
Q

What is the advantage and disadvantage of invasive prenatal diagnosis

A

advantage diagnostic

disadvantage: risk

38
Q

What does PND stand for

A

invasive prenatal diagnosis

39
Q

all invasive PND are associated with what

A

elevated risk of miscarriage

40
Q

ideally, PND is preformed when & why

A

early as possible - they still have option to terminate pregnancy the earlier it is, esp. in 1st trimester

41
Q

What does CVS stand for

A

chorionic villus sampling

42
Q

what is CVS

A

sampling of chorion of placenta (embryonic tissue) for genetic testing

43
Q

how does needle go in for CVS

A

transcervical or transabdmooinal

44
Q

What is disadvantage of CVS

A

can’t yet test for NTD

45
Q

what is advantage of CVS

A

performed early at 10-14 weeks

46
Q

when is CVS performed

A

10-14 weeks

47
Q

When is amniocentesis perofmred

A

16-20 weeks

48
Q

what is amniocentesis

A

sampling of amniotic fluid (has fetal origin)

49
Q

WHere does needle go for amniocentesis

A

abdomen

50
Q

what is advantage of amnioventesis

A

can also test for NTD

51
Q

What is risk for amniocentesis

A

.1%

52
Q

what is risk in CVS

A

.5%

53
Q

when is cordocentesis perofrmed

A

19-21 weeks

54
Q

what is cordocentesis

A

sampling fetal blood from umbilical cord

55
Q

what is risk of cordocentesis

A

1.4-1.9&=%

56
Q

why is cordocentesis performed

A

if the other two methods didn’t work, f they didn’t get conclusive results

57
Q

What is preimplantation genetic diagnosis

A

option if parents are carrier or high risk for a disease.
Do IVF and test the cell (take a cell from blastocyst) before they implant into mother to see if they have disease, they only choose the blastocysts without the disease

58
Q

Describe the emerging technology for fetal cell/DNA in maternal blood

A

fetal cells & cell-free DNA can be detected in maternal plasma, they are trying to isolate fetal cells and do genetic testing on it

59
Q

what is newborn screening

A

newborns are tested for diseases which depends on where test is done, normally the diseases tested are most common in the region.

60
Q

what is the cirteria for newborn screening

A 
treatment available
early treatment
testing necessary to detect disease
good testing available w/ low false positives and negatives
common enough that cost is worth it
61
Q

what is carrier screening

A

targeted at high risk individuals who might be carriers for disease

62
Q

what are examples of carrier screening test available and in use

A

tay-sachs
sickle cell
beta thalassemia

63
Q

what mutations are tested for when testing for diseases

A

test for the most common mutant alleles in subpopulation being tested

64
Q

a basic cystic fibrosis panel tests for which mtuations

A

deltaF508 + 22 other common mutations

65
Q

what has carrier screening in israel been able to do

A

almost eliminated tay sachs

MCB1 Block 4 (17 decks)

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