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PoM - Principles of Medicine Week 3 > Prenatal Testing > Flashcards

Prenatal Testing Flashcards

1
Q

What are the routine scans for a pregnancy?

A

Positive pregnancy test at home is no onger confirmed by GP

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2
Q

Can book into antenatal

A

Via GP

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3
Q

Normal routine scan at 12 weeks

A

Then again at 20 weeks

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4
Q

We missed a bunch

A

Oops

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5
Q

What are the aims of the 12 week scan?

A 
Accurately date the baby - due date 
Diagnose multiple pregnanyc e.g. twins?
Early miscarriage 
Downsyndrome
Major abnormalities
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6
Q

How to look at downsyndrome risk?

A

Look at:

Bunch of stuff i couldn’t get down

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7
Q

What is NT?

A

No idea - she’s too quick

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8
Q

Why look at fluid at the back of the neck?

A

Idk SHES SO FAST

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9
Q

Chromosomal anomalies?

A

What?? idek

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10
Q

When is prenatal testing arranged? and why?

A

Further testing e,g, known genetic condition in the family for invasive test
If parents are carriers
Many reasons why a woman may opt to have further tests

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11
Q

Aims of prenatal testing?

A

Prep the family for the birth of an affected baby - psychologically + equipment
Make plans for the birth
not generally used to make a decision to keep the baby or not - but may make decision to terminate the pregnancy

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12
Q

What are the 3 types of prenatal tests

A

Scanning
Non invasive
Invasive

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13
Q

Specialist scans why?

A

To target particular worries e.g. heart, brain etc.

Look at nasal bone for down syndrome

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14
Q

What is maternal serum screening?

A

At 12 week scan - certain hormones measured at each stage of the pregnany

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15
Q

What is cell free fetal DNA?

A

Doesn’t involve needle going into mother’s tummy
Baby sheds skin cells into the amniotic fluid, eventually ends up in the mother’s blood
Use mother’s blood which has a proportion of baby’s DNA in there
Look at chromosomes

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16
Q

What is a diagnostic technique? What?

A

IDK

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17
Q

What is NIPD?

A

idk

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18
Q

What is the father’s DNA used for?

A

idk

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19
Q

test for whether the baby is a boy or a girl why?

A

IDk

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20
Q

How to test for sex?

A

look for SRY gene on chromosome

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21
Q

If girl, may not plan firther testing?

A

Boys more affected than girls for many diseases

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22
Q

Use NIPD for what else?

A

Recessive - both parents carriers?

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23
Q

Look for father’s mutation in the baby for recessive ?

A

No - bby not affected

Yes - test for mother’s mutation

24
Q

If higher than 150 on Down Syndrome risk?

A

Women may have - harmony test (offered privately)
non invasive - not diagnostic but utility due to accuracy of the test
Looks for T13 T18 T21 (T = trisomy = extra chromosome)

25
If harmony report positive for Trisomy?
Look for invasive test to confirm, or other scans for other signs of down syndrome?
26
Limitations of NIPT / NIPD?
Multiple babies - not offered for as not possible to tell which DNA is from which High BMI women = reduced proportion of cell free fetal DNA Warn procedures may give sensitive info
27
Benefits of NIPT / NIPD?
Less invasive reduced risk of miscarriage with non-invasive Offer prenatal diagnosis from earlier NI = 9 weeks, I = 12 weeks onwards
28
What are some invasive tests?
offered if there is a 'known' risk? CVS - placenta Amniocitesis? idek how to spell - amniotic fluid
29
What is CVS?
1-2% of miscarriage - much lower in specialty centres
30
Useful?
To help patients decide if the pregnancy should be terminated - e.g. if they already have children affected and cannot put time into another baby
31
What is an amniocentesis?
Quoted to have a lower risk of miscarriage
32
Why may they have amnio over CVS?
small risk of genetic condition - so late test is fine | CVS if risk is high - need earlier diagnosis
33
What are the tests done with the DNA sample?
Idk bro Karyotype - looks for chromosomal abnormality QF PCR - looks for two copies of 13 18 and 21 (instead of 3 = DS)
34
What is CGH array?
ONly if there are concerns at the 20 week scans Micro deletions / micro duplications May be a normal variant so test parents to compare Accurate
35
Many times?
Just because you find something - doesnt mean severe phenotype etc.
36
How does it work? 4 steps
Extract + label DNA Hybridise and wash Scan Analyse data
37
What is Trio Exome? How does it work? Success rate?
DNA from affected baby and both parents - find cause of baby's problems e.g. recessive condition from both parents never been picked up before Sent if they think it is linked to a genetic syndrome etc.
38
Uses of TE?
If parents want another baby but don't know wgy their child has the conditons
39
The genome project uses?
From 100,000 healthy people - used for diagnosis / genetic conditions
40
Reproductive options for couples?
Reproductive options - where known repoructive risk e.g. 1 in 4 etc. conceive naturally unnaturally donors - e.g. egg for mitochondrial conditions adoption choose not to have children PGD
41
Egg and Sperm donation rules?
No longer anonymous - children have right at 18 to contact donor Some couples may privately find donor or go abroad
42
Adoption options? what ar ethe 2 stages?
Registration + checks Asessment Long process
43
What is PGD?
Uses IVF with additional step | Cells tested after a few replications / divisions
44
What is the process of PGD?
copy and paste
45
Which stage of development is the embryo sample taken?
can't remember
46
What is the eligibility criteria for PGD?
'serious' at least 10% risk Hormones of female - to see where the PGD will be successful eligibility - 3 cycles funded for
47
Why is PGD not an easy option?
Emotional and physical implications length Many injections - many decide they prefer natural
48
What conditons are pGD used for?
Translocation | ... etc.
49
The role of GC in prenatal testing?
Decisions differ from previous pregnancy CVS, amniocentesis blah blah can't remember
50
What factors play into decision making?
Cotext of: | [list]
51
Issues with decision making?
Couples disagree
52
Example Case 1:
..
53
Example Case 2:
..
54
Example Case 3:
..
55
Example Case 4:
..
56
CVS higher risk for miscarriage why?
Smaller fetus - needs more careful guidance

PoM - Principles of Medicine Week 3 (9 decks)

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