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Prenatal Screening Flashcards

1
Q

How many antenatal conditions are screened for?

A

32

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2
Q

Dating scan?

A

11-14 weeks

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3
Q

What do you check in dating scan?

A
  1. Viability- check heartbeat, (2/3% have miscarried)
  2. Accurate dating- gauge how many weeks pregnant she is
  3. Multiple pregnancies (chorionicity)
  4. Diagnosis of major structural abnormalities (spins bifida, anencephaly)
  5. Screening for chromosomal abnormalities
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4
Q

Screening for edwards, pataus?

A

First semester- combined screening

Second semester-quad tests

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5
Q

Edwards is trisomy in?

A

18

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6
Q

Pataus syndrome is trisomy of ?

A

13

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7
Q

First semester combined screening?

A

Maternal age, nuchal translucency scan and blood test for biochemical markers pappa, BhCG

Can choose down and or Patau/Edward

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8
Q

Nuchal traslucency scan can only happen between lengths of?

A

45-84mm, crown rump length CRL

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9
Q

In normal babies biochemical markers vary?

A

Free B-hcg is greater and PAPPA is lower

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10
Q

In edwards or Pataus the biochemical markers are?

A

Lower, lower bhcg and pappa

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11
Q

In downs the biochemical markers are?

A

Lower bhcg and higher pappa

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12
Q

Maternal factors influencing for combined screening

A 
Maternal age
Gestational age
Ethnicity
Smoking 
IVF
Multiple pregnancy
Maternal weight 
Maternal diabetes 
Past history of chromosome abnormality
Fetal sex 
Analytical imprecision
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13
Q

What is national cut off for high chance/low chance?

A

1 in 150

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14
Q

If high chance then result?

A

Phone within 3 working days offer further tests

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15
Q

Low chance result?

A

Letter within 2 weeks

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16
Q

Combined test happens when?

A

11-14 weeks

17
Q

Quadruple test happens when?

A

14-20 weeks

18
Q

Quadruple test only screens for?

19
Q

What 4 markers are tested in quads test?

A

Inhibin a placental hormone
Bhcg
Higher than average

UE3- unconjugated estriol
Alpha fetoprotein
Lower than average

20
Q

Options after combined/quad screening test?

A
  1. Do nothing
  2. Diagnostic invasive testing - amnio
  3. Non invasive prenatal testing
21
Q

Diagnostic invasive testing includes?

A

Chorionic villus- take tissue of placenta at 11 weeks

Amniocentesis- taking amniotic fluid at 15 weeks

22
Q

Risk of diagnostic invasive test?

A

0.5-1% risk of miscarriage, higher in twins

23
Q

Non invasive prenatal testing includes?

A

Detecting cell free fetal dna in maternal blood from 10 weeks, 10% from foetus

24
Q

NIPT offered only up to?

A

21 weeks and 6 days

25
Anomaly scan happens at?
18-20 week 6 days
26
Anomaly scans for how many conditions?
``` 11 Anencephaly Open spina bifida Cleft lip Diaphragmatic hernia Edwards Pataus Lethal skeletal dysplasia Bilateral renal a genesis Exomphalos Gastroschsis Serious cardiac anomalies ```
27
How to collect data from anomaly scans?
National congenital anomaly and rare disease registration service ncardrs
28
Termination of pregnancy with downs in UK?
90%
29
Grounds e?
Substantial risk if child were born it would suffer from physical and mental abnormalities as to be seriously handicapped
30
Nuchal fold is from?
Outer edge of occipital bone to skin
31
UK 1967 Abortion act allows?
Permits abortion at any time if there is a significant risk of baby being born with a serious disability
32
Support charity for people who are having a downs baby
Antenatal results and choices ARC
33
When is there a risk of miscarriage?
With diagnostic tests not screening ones
34
Why is the quadruple test offered?
If pregnancy is too advanced to perform combined test Unable to measure unchallenged translucency
35
What is used in quad tests?
Maternal serum screen, and 4 maternal biochemical markers along smoking weight ethnicity gestational age and maternal age
36
What are the advantages of invasive diagnostic test?
Definitive result Option for diagnosis by full karyotyping Monogenic disorders targeted gene panels
37
NIPT screening for downs?
Sensitivity and specificity is 99%
38
What is a cousin criteria for NIPT?
maternal cancer [cell free DNA from tumour] possibility of donor DNA eg after blood transfusion, bone marrow or organ transplant, stem cell therapy vanished twin pregnancy (second pregnancy sac – either empty or containing non-viable fetus) known maternal trisomy 21/ balanced translocation/ mosaicism of T13/18/21
39
Advantages and disadvantages of NIPT?
Advantages High detection rates, low screen positive rates Reduction in invasive diagnostic testing [cost effective] hence reduction in miscarriage caused by invasive testing [CVS/amniocentesis] Disadvantages Screening test: Not diagnostic [false positives / false negatives] Confirm high chance results with invasive test Not suitable for everyone

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