Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

MCB1 Block 4 > Genetic Counseling & Screening > Flashcards

Genetic Counseling & Screening Flashcards

(65 cards)

Start Studying
1
Q

what is genetic counseling

A

communication dealing with problems associated with genetic disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Who is the consultand

A

patient

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the first step in genetic counseling

A

diagnosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what is the second step in genetic counseling

A

risk assessment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the third step in genetic counseling

A

discuss options with patient, non-directive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is the fourth step in genetic counseling

A

communication & long-term support

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is targeted screening doing

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what is population screening

A

screening done for all population

low risk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what are the three major types of screening

A

prenatal screening/diagnosis
newborn screening
heterozygote (carrier) screening

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

what are the two types of prenatal screening/diagnosis

A

noninvasie

invasive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what are the advantages ot noninvasive screening

A

don’t go into uterus, no risk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

what are the disadvatnages of noninvasive screening

A

false positives an dnegatives

not always accurate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what are the three noninvasive prenatal screening types

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Should all pregnancies have noninvasive screening

A

yes - new standard of care

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What does FIRST stand for

A

First Trimester Integated Screening for Trisomies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

when is FIRST performed

A

weeks 11-14

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What tests are combined to prform FIRST

A

biochemical analysis of maternal serum
ultrasound
maternal age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what is looked at in maternal serum in FIRST test

A

hCG

PAP-A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

what does hCG stand for

A

human chorionic gonadotropin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What does PAP-A stand for

A

pregnancy Associated protein-A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

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

A

nuchal translucency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are the detection rates for Down Syndrome in FIRST

A

80%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
What does maternal serum screen looking for
look at levels of proteins in the blood
26
When is maternal serum screening perofrmed
15-20 weeks (it is also perfeomed in first trimester, but some things are only tested for in second trimester)
27
In second smester what is Maternal Serum Screening testing for in triple Screen Test
AFP uE3 hCG
28
Why is AFP looked at
neural tube defects
29
what is advantage of maternal serum screening in second sesmeter
tests for nerual tube defects
30
what does testing for uE3 and hCG looking for
trisomy 18 & 21
31
What is the quad screen test
same as triple screen test of maternal serum screening + tests for Inhibin-A
32
What does AFP stand for
alpha-fetoprotein
33
What is the major blood protein in the fetus
AFP
34
When there are neural tube defects what happens
AFP is released into maternal blood - if it is elevated more than normal strong correlation for NTD
35
When can AFP be measured to truly detecft if there is NTD
16.5-17.5 weeks
36
What are the three invasive prenatal diagnosis method
chorionic villus sampling Amniocentesis Cordocentesis
37
What is the advantage and disadvantage of invasive prenatal diagnosis
advantage diagnostic | disadvantage: risk
38
What does PND stand for
invasive prenatal diagnosis
39
all invasive PND are associated with what
elevated risk of miscarriage
40
ideally, PND is preformed when & why
early as possible - they still have option to terminate pregnancy the earlier it is, esp. in 1st trimester
41
What does CVS stand for
chorionic villus sampling
42
what is CVS
sampling of chorion of placenta (embryonic tissue) for genetic testing
43
how does needle go in for CVS
transcervical or transabdmooinal
44
What is disadvantage of CVS
can't yet test for NTD
45
what is advantage of CVS
performed early at 10-14 weeks
46
when is CVS performed
10-14 weeks
47
When is amniocentesis perofmred
16-20 weeks
48
what is amniocentesis
sampling of amniotic fluid (has fetal origin)
49
WHere does needle go for amniocentesis
abdomen
50
what is advantage of amnioventesis
can also test for NTD
51
What is risk for amniocentesis
.1%
52
what is risk in CVS
.5%
53
when is cordocentesis perofrmed
19-21 weeks
54
what is cordocentesis
sampling fetal blood from umbilical cord
55
what is risk of cordocentesis
1.4-1.9&=%
56
why is cordocentesis performed
if the other two methods didn't work, f they didn't get conclusive results
57
What is preimplantation genetic diagnosis
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
Describe the emerging technology for fetal cell/DNA in maternal blood
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
what is newborn screening
newborns are tested for diseases which depends on where test is done, normally the diseases tested are most common in the region.
60
what is the cirteria for newborn screening
``` 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
what is carrier screening
targeted at high risk individuals who might be carriers for disease
62
what are examples of carrier screening test available and in use
tay-sachs sickle cell beta thalassemia
63
what mutations are tested for when testing for diseases
test for the most common mutant alleles in subpopulation being tested
64
a basic cystic fibrosis panel tests for which mtuations
deltaF508 + 22 other common mutations
65
what has carrier screening in israel been able to do
almost eliminated tay sachs

MCB1 Block 4 (17 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions