Module 2 A

Question 1

When should a midwife or WHNP involve a genetic counselor in carrier screening?

Answer 1

We should consult or arrange for a patient to see a genetic counselor after carrier screening if one or both partners are carriers

Question 2

o Why do we offer carrier screening?

Answer 2

• The purpose of carrier screening is to identify healthy persons who carry gene mutations associated with disease or dysfunction
• to provide individuals/couples with information that they can use to make reproductive decisions, based on their preferences and values

Question 3

o Why is it preferable to offer carrier screening before pregnancy, rather than during pregnancy?

Answer 3

• So that individuals/couples who are carriers of inherited gene-mutation conditions can choose not to have biological children, adopting, conceiving spontaneously with or without prenatal diagnostic testing, or undergoing in vitro fertilization with pre-implantation genetic testing.

Question 4

o When should a midwife or WHNP involve a genetic counselor in carrier screening?

Answer 4

• We should consult or arrange for a patient to see a genetic counselor after carrier screening if one or both partners are carriers

Question 5

o How can we advance health equity in carrier screening?

Answer 5

• By advocating for equity in insurance coverage and privacy of genetic testing results

Question 6

o How do ethnic-specific, pan-ethnic, and expanded screening approaches differ?

Answer 6

• Ethnic-specific: conditions considered to be common in the ethnic group with which the patient identifies; conditions identified through family history
• Pan-ethnic: Screens all patients for specific conditions, regardless of identified ethnic group or ancestry
• Screens for a large number of conditions simultaneously, without regard to ethnic group or ancestry

Question 7

o In general, how does screening for gene conditions differ from screening for chromosome or fetal anatomical development conditions?

Question 8

5. How will you assess which vaccinations should be given preconceptual to each patient?

Question 9

Which vaccinations are the highest priority to assess prior to pregnancy?

Answer 9

MMR

Question 10

4. Which history or physical exam findings will you need to consider to determine which lab tests you will order?

Question 11

3. Which infections are high-priority to screen for during a preconception visit and in which patients (given their risk factors)? What significance do those infections potentially have in an upcoming pregnancy?

Question 12

2. Which physical exam components are necessary during a preconception visit?

Question 13

1. Which elements of someone’s medical history (including mental health, infection history, social history, vaccination history, family and genetic history) are relevant for a future pregnancy?

Answer 13

All

Question 14

2. Which physical exam components are necessary during a preconception visit?

Answer 14

a. Elevated blood pressure
b. Higher body weight
c. Heart murmurs or extra heart sounds
d. Uterine fibroids
e. Spinal deformity
f. Pelvic injury or deformity