prenatal Diagnosis

Question 1

probability, not a definitive answer and provides individual risk assessment

Answer 1

screening

Question 2

definitive and procedure-related risk of pregnancy loss

Answer 2

diagnostic

Question 3

example of screening (3)

Answer 3

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

Question 4

example of diagnostic (3)

Answer 4

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

Question 5

when is nuchal translucency ultrasound performed?

Answer 5

at 11-13+ weeks

Question 6

Nuchal translucency ultrasound measures

Answer 6

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

Question 7

a nuchal translucency measurement of >3.9 mm is

Answer 7

associated with an increased risk for aneuploidy and fetal heart defects

Question 8

most fetuses with an increased nuchal translucency do not have

Answer 8

aneuploidy

Question 9

nuchal trans. ultrasound detects

Answer 9

~60% of fetuses with aneuploidy

Question 10

fetal anatomic survey can be performed

Answer 10

any time after 18 weeks

Question 11

fetal anatomic survey can detect

Answer 11

structural fetal anomalies such as congenital heart defects

Question 12

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

Answer 12

echogenic intracardiac foci

Question 13

most structural anomalies increase

Answer 13

the chance for aneuploidy and/or other genetic syndromes

Question 14

soft-markers

Answer 14

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

Question 15

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

Answer 15

• open neural tube defects
• congenital heart defects
• down syndrome
• trisomy 18

Question 16

EIF

Answer 16

soft-marker

Question 17

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

Answer 17

T21

Question 18

maternal serum marker screening is offered

Answer 18

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

Question 19

maternal serum marker screening can evaluate the

Answer 19

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

Question 20

maternal serum marker screening: results are presented as

Answer 20

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

Question 21

chance that a positive result is a true positive

Answer 21

positive predictive value

Question 22

positive predictive value depends on the

Answer 22

condition, sensitivity, specificity a prior risk for the condition

Question 23

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

Answer 23

high or low risk

Question 24

most women with “ high risk” results will have an

Answer 24

unaffected fetus

Question 25

maternal serum marker screening: first trimester screen (11-13+weeks)

Answer 25

- nuchal translucency | - serum analytes: free Beta-hcG, PAPP-A

Question 26

maternal serum marker screening: second trimester Quad (15-21+ weeks)

Answer 26

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

Question 27

combine information from first and second trimester

Answer 27

integrated and sequential screens

Question 28

integrated and sequential screens pros

Answer 28

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

Question 29

maternal serum marker screening: down syndrome

Answer 29

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

Question 30

maternal serum marker screening: Trisomy 18

Answer 30

- first trimester: 80% - Quad screen: ~80% - Integrated/sequential: ~80%

Question 31

maternal serum marker screening: | ONTD

Answer 31

- first trimester: - - Quad screen: ~80% - Integrated/sequential: ~80%

Question 32

maternal serum marker screening: | FPR

Answer 32

- first trimester: 5% - Quad screen: 5% - Integrated/sequential: ~5%

Question 33

who is indicated for additional testing?

Answer 33

- routine for all | - more advanced testing depends on advanced maternal age, past history

Question 34

non-invasive prenatal testing via cell-free DNA testing

Answer 34

evaluation of cell-free DNA in maternal serum

Question 35

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

Answer 35

women at increased risk for aneuploidy

Question 36

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

Answer 36

any time 10 weeks to delivery

Question 37

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

Answer 37

placenta

Question 38

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

Answer 38

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

Question 39

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

Answer 39

significantly higher detection rates and lower false positive rates

Question 40

positive predictive values are generally higher in

Answer 40

traditional maternal serum marker screening

Question 41

NIPT performance on trisomy 13

Answer 41

80% sensitivity vs >99% specificity

Question 42

positive predictive trend in age

Answer 42

increases as we grow older

Question 43

Chorionic villus sampling (CVS) is preformed at

Answer 43

10-13+ weeks

Question 44

Chorionic villus sampling (CVS) risk

Answer 44

1/300-1/500 for miscarriage

Question 45

Chorionic villus sampling (CVS) cannot test for

Answer 45

neural tube defects

Question 46

Amniocentesis is preformed at

Answer 46

15+ weeks

Question 47

amniocentesis risk

Answer 47

1/300-1/500 for miscarriage

Question 48

amniocentesis detects

Answer 48

98% of open neural tube defects

Question 49

alpha-fetoprotein

Answer 49

neural tube defect

Question 50

pre-implantation genetic testing can be

Answer 50

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

Question 51

pre-implantation genetic testing

Answer 51

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

Question 52

aneuploidy

Answer 52

extremely common in embryos

Question 53

pre-implantation diagnosis

Answer 53

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

Question 54

abnormal number of chromosomes in the cell

Answer 54

aneuploidy