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203 > Prenatal Screening > Flashcards

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?

A

Downs

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
Q

Anomaly scan happens at?

A

18-20 week 6 days

26
Q

Anomaly scans for how many conditions?

A 
11
Anencephaly
Open spina bifida
Cleft lip
Diaphragmatic hernia
Edwards
Pataus
Lethal skeletal dysplasia
Bilateral renal a genesis
Exomphalos
Gastroschsis
Serious cardiac anomalies
27
Q

How to collect data from anomaly scans?

A

National congenital anomaly and rare disease registration service ncardrs

28
Q

Termination of pregnancy with downs in UK?

A

90%

29
Q

Grounds e?

A

Substantial risk if child were born it would suffer from physical and mental abnormalities as to be seriously handicapped

30
Q

Nuchal fold is from?

A

Outer edge of occipital bone to skin

31
Q

UK 1967 Abortion act allows?

A

Permits abortion at any time if there is a significant risk of baby being born with a serious disability

32
Q

Support charity for people who are having a downs baby

A

Antenatal results and choices ARC

33
Q

When is there a risk of miscarriage?

A

With diagnostic tests not screening ones

34
Q

Why is the quadruple test offered?

A

If pregnancy is too advanced to perform combined test

Unable to measure unchallenged translucency

35
Q

What is used in quad tests?

A

Maternal serum screen, and 4 maternal biochemical markers along smoking weight ethnicity gestational age and maternal age

36
Q

What are the advantages of invasive diagnostic test?

A

Definitive result
Option for diagnosis by full karyotyping
Monogenic disorders targeted gene panels

37
Q

NIPT screening for downs?

A

Sensitivity and specificity is 99%

38
Q

What is a cousin criteria for NIPT?

A

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
Q

Advantages and disadvantages of NIPT?

A

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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