Genetic Screens

Question 1

What is the purpose of the prenatal screen?

Answer 1

Define the risk of a genetic disease in a low risk population

Question 2

Does screening r/o a disease?

Answer 2

no

Question 3

What is the difference between a diagnostic test and a screening test?

Answer 3

A screening test does not confirm or r/o a disease, but assesses the risk that a child may have a genetic disease

Question 4

What are the three major genetic screens done?

Answer 4

T21, T18, and T13

Question 5

What are the three biochemical markers tested for in the 1st trimester?

Answer 5

• hCG
• PAPP-A
• Nuchal translucency

Question 6

What does nuchal translucency measure? When can this be measured

Answer 6

The size of the fluid at the back of the fetal neck that can bee seen at 10-14 weeks

Question 7

What is the PAPP-A test?

Answer 7

Pregnancy associated plasma protein

Question 8

What is the sensitivity of US and markers in the 1st trimester for Down syndrome? False positive rate?

Answer 8

85% sensitive

5% false positive

Question 9

If there is an increased risk of aneuploidy with the 1st trimester screen, what is offered?

Answer 9

Genetic counseling, and diagnostic CVS or amniocentesis

Question 10

What is the advantage of the 1st trimester screen?

Answer 10

Decisions can be made regarding continuing the pregnancy, if necessary

Question 11

How early can CVS (chorionic villus sampling) be performed? What is done with this procedure?

Answer 11

As early at 10 weeks

-Needle is passed through the cervix into the chorion, and sample is gathered

Question 12

How early can amniocentesis for genetics be performed? What is done with this procedure?

Answer 12

• 15-20 weeks

- needle passed through SQ tissue of mom into uterus/amnion, to gather skin samples for karyotyping

Question 13

When can percutaneous umbilical blood sampling be performed?

Answer 13

20 weeks

Question 14

What are the complications with amniocentesis?

Answer 14

• Pregnancy loss

- Break water.

Question 15

Why is amniocentesis particularly important for 35 yo mothers?

Answer 15

Risk of diagnosing disorder = risk of having disorder

Question 16

How do you get blood sample from a fetus (for typing/screen and/or karyotyping)? When is this performed?

Answer 16

• Percutaneous umbilical blood sampling

- After 20 weeks

Question 17

Can US be used alone for aneuploidy?

Answer 17

Yes

Question 18

If US is performed alone, what are the signs that may signal increased risk for chromosomal abnormality? (2) What should be done if these are detected?

Answer 18

Structural malformation of a major fetal organ or structure, OR finding 2+ minor malformations

Genetic testing of the fetus regardless of maternal age or parental karyotype

Question 19

What are the components of the quad screen that can be done to confirm karyotypes?

Answer 19

• MSAFP
• Estriol
• hCG
• Inhibin A

Question 20

When is US for anatomy performed?

Answer 20

22 weeks (2nd trimester)

Question 21

Should women who have had 1st trimester screening for aneuploidy, undergo 2nd trimester screening? Why?

Answer 21

No–false positives,

Question 22

When is 2nd trimester screening performed?

Answer 22

15-20 weeks

Question 23

What is the relation between maternal AFP and T21?

Answer 23

Low AFP increases risk for T21

Question 24

What is the sensitivity of T21 with the quad screen?

Answer 24

80%

Question 25

What is integrated screening?

Answer 25

Results of both 1st and 2nd trimester screen and US combined to increase the ability to detect Down syndrome--these results are withheld until both tests are completed?

Question 26

What is the sensitivity of the integrated screen?

Answer 26

94-96%

Question 27

What are the two genetic cancer screens that are commonly obtained in ob/Gyn?

Answer 27

- BRCA1 and 2 | - HNPCC

Question 28

The most important initial step in identifying women at high risk for hereditary cancers is through what?

Answer 28

Family history

Question 29

What FMHx is concerning for gyn cancer? (4)

Answer 29

- 1st degree relative - young ages (less than 50) - CA in multiple generations - Many CAs in one individual

Question 30

What is Fitz-hugh-curtis syndrome?

Answer 30

Adhesions between the liver and the diaphragm d/t PID spread

Question 31

If a woman tests positive for the BRCA mutation, what should be done? (2)

Answer 31

- Increased screening (e.g. MRI in addition to annual mammogram) - Risk reduction surgery

Question 32

What is HNPCC? Inheritance pattern?

Answer 32

AD defect in DNA mismatch repair, that increases the risk for colon and endometrial CA

Question 33

What are "variants of undetermined significance" in terms of genetic testing?

Answer 33

Gene that is found, but is of uncertain significance--if these are later found to be at an increased risk, then she will be contacted

Question 34

What is Lynch A (type I ) at increased risk for?

Answer 34

increased risk for colorectal and endometrial CA

Question 35

What is Type B (Lynch II) at increased risk for?

Answer 35

type A + ovarian, gastric, and pancreatic

Question 36

What is the puerperium?

Answer 36

First 6 weeks after delivery, including time in the hospital

Question 37

What are the vaccines that are updated in the hospital after delivery?

Answer 37

- MMR - TDaP - flu

Question 38

Why do postpartum women need good breast support?

Answer 38

Breasts will engorge until painful

Question 39

What is the appropriate hormonal birth control in recently postpartum women? Why?

Answer 39

Progesterone, since estrogen will decrease lactation

Question 40

Why should oral contraceptives, as well as sexual intercorse, be done a few weeks later after being postpartum, instead of right after birth?

Answer 40

Risk for VTE

Question 41

What are the common complications in the puerperium?

Answer 41

- wound infx/separation | - Endomyometritis

Question 42

What is a dehiscence vs separation?

Answer 42

Dehiscence is when the fascia pulls apart, whereas in wound separation there is no fascial disturbances

Question 43

What is endomyometritis?

Answer 43

Infection of the endometrium following pregnancy

Question 44

How common are UTIs postpartum

Answer 44

Common

Question 45

What are the 5 B's of the immediate postpartum period?

Answer 45

- Brain (depression) - Breast - Bladder - Bleeding (lochia) - Birth control

Question 46

What is the incidence of postpartum depression?

Answer 46

5-25%

Question 47

How quickly does postpartum depression resolve?

Answer 47

7 months if untreated

Question 48

How long do the "baby blues" last for?

Answer 48

10 days ish

Question 49

What is the diagnostic criteria for postpartum depression? (start, end)

Answer 49

Onset within 4 weeks postpartum, and lasting up to 7 months

Question 50

How long should pelvic rest postpartum last?

Answer 50

6 weeks

Question 51

Combination OCPs should not be started until at least how many weeks postpartum?

Answer 51

3 weeks

Question 52

True or false: a personal h/o ovarian cancer is a qualification to receive genetic testing for BRCA-1?

Answer 52

True

Question 53

1 family member dx with breast, ovarian, colon or uterine CA under what age qualifies one to receive genetic screening?

Answer 53

45

Question 54

2 family members dx with breast, ovarian, colon or uterine CA, and 1 dx under what age qualifies one to receive genetic screening?

Answer 54

50

Question 55

What number of family member diagnoses at any age is needed to qualify for genetic testing?

Answer 55

3

Question 56

Triple negative breast cancer under what age qualifies for genetic screening?

Answer 56

60

Question 57

True or false: a family h/o of 1 male breast cancer qualifies for genetic screening

Answer 57

True

Question 58

What is Lochia? How long does this last for?

Answer 58

the vaginal discharge after giving birth (puerperium) containing blood, mucus, and uterine tissue. Lochia discharge typically continues for 4 to 6 weeks after childbirth.