Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

3 Reproduction and Sexual Health > Genetics > Flashcards

Genetics Flashcards

1
Q

what procedure needs to be done to sample the DNA in the placenta?

A

chorionic villus biopsy

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

amniocentesis tests DNA in what cells?

A

baby’s skin and urine cells

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

what procedure is done to assess fetal blood?

A

fetal blood sampling

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

when is amniocentesis done?

A

15 weeks and over

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

a chorionic villus biopsy is done at what gestation?

A

11.5 weeks

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

name 3 genetic analyses that can test the whole genome of the fetus?

A

array CGH
whole genome sequencing
fetal DNA from maternal serum

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

name 3 genetic analyses that test targeted areas of the fetal genome?

A

point mutation testing
FISH
quantitive fluorescent PCR

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

difference between mutation and polymorphism?

A

polymorphisms dont necessarily cause disease

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

what is a copy number variation?

A

insertions or deletions of DNA segments

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

if you suspect an abnormality that is too small to be seen on a whole chromosome, what test should you do?

A

FISH

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

if you suspect an abnormality that is big enough to be seen on a whole chromosome, what test should you do?

A

array CGH

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

when would you do karyotyping over array CGH?

A

high risk of trisomy
fetal abnormality on screening
parent has balanced chromosomal rearrangement

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

when is the first dating USS done?

A

12 weeks

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

at what gestation is serum screening done?

A

16 weeks gestation

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

what is being tested in non-invasive prenatal testing (NIPT)?

A

maternal blood (contains fetal blood)

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

main indication for NIPT?

A
  1. suspected aneuploidy (extra/missing chromosome) eg trisomies
    2, fetal sexing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

genetic Ix for duchenne MD?

A

chorionic villus sample

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

what congenital heart defect is commonly seen in downs syndrome?

A

atrioventricular septal defect

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

what genetic test is best when unsure of the genetic cause?

A

array CGH

20
Q

what is better: an unbalanced chromosome rearrangement or sex chromosome aneuploidy?

A

sex chromosome aneuploidy eg X inactivation

21
Q

define a robertsonian translocation

A

two acrocentric chromosomes stuck end to end

22
Q

you are at increased risk of what if you have a robertsonian translocation?

A

trisomy

23
Q

what would aCGH look like in someone with a balanced translocation?

A

normal

only detects imbalance

24
Q

unbalanced translocations have what consequences for the fetus?

A

if large, miscarriage

if small, dysmorphic delayed child

25
Q

name the different genetic tests from most general to most specific

A

chromosome analysis
aCGH
PCR and sanger sequencing
NGS

26
Q

how specific is NIPT?

A

very specific down to 1 base pair

27
Q

what does “c.” stand for in a genetic sequence

A

the position in the mRNA that the mutation is

28
Q

what does “c.267 + 2T>A” mean in terms of mutation location

A

267 codons in, at the 2nd base in the codon there is a substitution from T (normal) to A (the mutation)

29
Q

> means what in genetics?

A

substitution eg C>G

30
Q

when can cardiac abnormalities be spotted on USS?

A

12-20 weeks

31
Q

when can short limbs be detected on USS?

A

after 22 weeks

32
Q

“banana shaped cerebellum”…

A

spina bifida

33
Q

a suspected chromosome abnormality would prompt what investigations?

A

array cGH

34
Q

how can you sex a fetus without invasion?

A

test mums blood for Y chromosomes

35
Q

risk of X linked disease if baby is male?

A

1 in 2

36
Q

risk of X linked disease in children?

A

1 in 4

37
Q

how is DNA tested in pregnancy?

A

PCR

38
Q

how is DNA sampled in pregnancy

A

chorionic villus biopsy at 11.5 weeks

amnio at 16+ weeks

39
Q

Ix patient with duchenne MD who wants to see if their baby has duchenne?

A

sexing on fetal DNA then proceed to either CVB or amnio depending on estation

40
Q

risk to all couples of a congenital problem is 1 in __

A

200

41
Q

_% of embryos have an abnormal chromosome makeup

A

50

42
Q

how is fertilisation done in preimplantation genetic testing?

A

ICSI

43
Q

when is an embyro biopsied for PGD? how many cells is it made of?

A

8 cells at day 3 post fertilisation

44
Q

sex determination is done by what process in PGD?

A

FISH

45
Q

when would you consider PGD?

A

paremtal chromosomal abnormality
x linked disorder
single gene disorders eg CF

3 Reproduction and Sexual Health (51 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions