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Genetics 2 > prenatal Diagnosis > Flashcards

prenatal Diagnosis Flashcards

exam 2

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1
Q

probability, not a definitive answer and provides individual risk assessment

A

screening

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2
Q

definitive and procedure-related risk of pregnancy loss

A

diagnostic

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3
Q

example of screening (3)

A

(1) ultrasound
(2) maternal serum marker
(3) non-invasive prenatal testing (NIPT)

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4
Q

example of diagnostic (3)

A

(1) chorionic villus sampling (CVS)
(2) amniocentesis
(3) cordocentesis (PUBS)

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5
Q

when is nuchal translucency ultrasound performed?

A

at 11-13+ weeks

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6
Q

Nuchal translucency ultrasound measures

A

nuchal transulency- a fluid under the skin behind the fetal neck

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7
Q

a nuchal translucency measurement of >3.9 mm is

A

associated with an increased risk for aneuploidy and fetal heart defects

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8
Q

most fetuses with an increased nuchal translucency do not have

A

aneuploidy

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9
Q

nuchal trans. ultrasound detects

A

~60% of fetuses with aneuploidy

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10
Q

fetal anatomic survey can be performed

A

any time after 18 weeks

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11
Q

fetal anatomic survey can detect

A

structural fetal anomalies such as congenital heart defects

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12
Q

fetal anatomic survey can detect “soft- markers” for anueploidy such as

A

echogenic intracardiac foci

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13
Q

most structural anomalies increase

A

the chance for aneuploidy and/or other genetic syndromes

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14
Q

soft-markers

A

are not fetal anomalies but can be used to adjust the chance for aneuploidy in a pregnancy

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15
Q

In fetal anatomic survey, level II ultrasound is performed in centers with special training and equipment, and can detect:

A
  • open neural tube defects
  • congenital heart defects
  • down syndrome
  • trisomy 18
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16
Q

EIF

A

soft-marker

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17
Q

EIF increases the chance f ____ but is not a birth defect

A

T21

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18
Q

maternal serum marker screening is offered

A

to all pregnant women to measure proteins and hormones produced by the fetus and placenta

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19
Q

maternal serum marker screening can evaluate the

A

chances for Down syndrome, trisomy 18, and open neural tube defects

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20
Q

maternal serum marker screening: results are presented as

A

1/### fraction and it is known at the positive predictive value

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21
Q

chance that a positive result is a true positive

A

positive predictive value

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22
Q

positive predictive value depends on the

A

condition, sensitivity, specificity a prior risk for the condition

23
Q

screen separates women into _____________ groups based on whether the risk is above or below the laboratory-determined cut off for screen positive or screen negative

A

high or low risk

24
Q

most women with “ high risk” results will have an

A

unaffected fetus

25
Q

maternal serum marker screening:

first trimester screen (11-13+weeks)

A
  • nuchal translucency

- serum analytes: free Beta-hcG, PAPP-A

26
Q

maternal serum marker screening:

second trimester Quad (15-21+ weeks)

A

-serum analytes: AFP, uE3, hCG, Inhibin A

27
Q

combine information from first and second trimester

A

integrated and sequential screens

28
Q

integrated and sequential screens pros

A

slightly increased detection rates and/or decreased false positive rates (FPR)

29
Q

maternal serum marker screening:

down syndrome

A
  • first trimester: 82-87%
  • Quad screen: ~80%
  • Integrated/sequential: ~95-96%
30
Q

maternal serum marker screening:

Trisomy 18

A
  • first trimester: 80%
  • Quad screen: ~80%
  • Integrated/sequential: ~80%
31
Q

maternal serum marker screening:

ONTD

A
  • first trimester: -
  • Quad screen: ~80%
  • Integrated/sequential: ~80%
32
Q

maternal serum marker screening:

FPR

A
  • first trimester: 5%
  • Quad screen: 5%
  • Integrated/sequential: ~5%
33
Q

who is indicated for additional testing?

A
  • routine for all

- more advanced testing depends on advanced maternal age, past history

34
Q

non-invasive prenatal testing via cell-free DNA testing

A

evaluation of cell-free DNA in maternal serum

35
Q

non-invasive prenatal testing via cell-free DNA testing is offered to

A

women at increased risk for aneuploidy

36
Q

non-invasive prenatal testing via cell-free DNA testing when can it be preformed?

A

any time 10 weeks to delivery

37
Q

cell-free DNA in Maternal plasma, 10% of the DNA fragments in a pregnant woman’s blood are from the

A

placenta

38
Q

non-invasive prenatal testing via cell-free DNA testing can evaluate the chances for

A

trisomies 21, 18, 13, monosomy X in the fetus/placenta

39
Q

non-invasive prenatal testing via cell-free DNA testing vs maternal serum marker screening

A

significantly higher detection rates and lower false positive rates

40
Q

positive predictive values are generally higher in

A

traditional maternal serum marker screening

41
Q

NIPT performance on trisomy 13

A

80% sensitivity vs >99% specificity

42
Q

positive predictive trend in age

A

increases as we grow older

43
Q

Chorionic villus sampling (CVS) is preformed at

A

10-13+ weeks

44
Q

Chorionic villus sampling (CVS) risk

A

1/300-1/500 for miscarriage

45
Q

Chorionic villus sampling (CVS) cannot test for

A

neural tube defects

46
Q

Amniocentesis is preformed at

A

15+ weeks

47
Q

amniocentesis risk

A

1/300-1/500 for miscarriage

48
Q

amniocentesis detects

A

98% of open neural tube defects

49
Q

alpha-fetoprotein

A

neural tube defect

50
Q

pre-implantation genetic testing can be

A

pre-screened because they grow in a multi-cell state

51
Q

pre-implantation genetic testing

A

typically uses microarray-based testing to screen for aneuploidy in embryos

52
Q

aneuploidy

A

extremely common in embryos

53
Q

pre-implantation diagnosis

A

typically uses a family-specific test to screen for a single gene disorder in embryos

54
Q

abnormal number of chromosomes in the cell

A

aneuploidy

Genetics 2 (7 decks)

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