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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
Q

If harmony report positive for Trisomy?

A

Look for invasive test to confirm, or other scans for other signs of down syndrome?

26
Q

Limitations of NIPT / NIPD?

A

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
Q

Benefits of NIPT / NIPD?

A

Less invasive
reduced risk of miscarriage with non-invasive
Offer prenatal diagnosis from earlier NI = 9 weeks, I = 12 weeks onwards

28
Q

What are some invasive tests?

A

offered if there is a ‘known’ risk?
CVS - placenta
Amniocitesis? idek how to spell - amniotic fluid

29
Q

What is CVS?

A

1-2% of miscarriage - much lower in specialty centres

30
Q

Useful?

A

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
Q

What is an amniocentesis?

A

Quoted to have a lower risk of miscarriage

32
Q

Why may they have amnio over CVS?

A

small risk of genetic condition - so late test is fine

CVS if risk is high - need earlier diagnosis

33
Q

What are the tests done with the DNA sample?

A

Idk bro
Karyotype - looks for chromosomal abnormality
QF PCR - looks for two copies of 13 18 and 21 (instead of 3 = DS)

34
Q

What is CGH array?

A

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
Q

Many times?

A

Just because you find something - doesnt mean severe phenotype etc.

36
Q

How does it work? 4 steps

A

Extract + label DNA
Hybridise and wash
Scan
Analyse data

37
Q

What is Trio Exome? How does it work? Success rate?

A

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
Q

Uses of TE?

A

If parents want another baby but don’t know wgy their child has the conditons

39
Q

The genome project uses?

A

From 100,000 healthy people - used for diagnosis / genetic conditions

40
Q

Reproductive options for couples?

A

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
Q

Egg and Sperm donation rules?

A

No longer anonymous - children have right at 18 to contact donor
Some couples may privately find donor or go abroad

42
Q

Adoption options? what ar ethe 2 stages?

A

Registration + checks
Asessment
Long process

43
Q

What is PGD?

A

Uses IVF with additional step

Cells tested after a few replications / divisions

44
Q

What is the process of PGD?

A

copy and paste

45
Q

Which stage of development is the embryo sample taken?

A

can’t remember

46
Q

What is the eligibility criteria for PGD?

A

‘serious’ at least 10% risk
Hormones of female - to see where the PGD will be successful
eligibility - 3 cycles funded for

47
Q

Why is PGD not an easy option?

A

Emotional and physical implications
length
Many injections - many decide they prefer natural

48
Q

What conditons are pGD used for?

A

Translocation

… etc.

49
Q

The role of GC in prenatal testing?

A

Decisions differ from previous pregnancy
CVS, amniocentesis
blah blah can’t remember

50
Q

What factors play into decision making?

A

Cotext of:

[list]

51
Q

Issues with decision making?

A

Couples disagree

52
Q

Example Case 1:

A

..

53
Q

Example Case 2:

A

..

54
Q

Example Case 3:

A

..

55
Q

Example Case 4:

A

..

56
Q

CVS higher risk for miscarriage why?

A

Smaller fetus - needs more careful guidance

PoM - Principles of Medicine Week 3 (9 decks)

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