genetic assessment and counseling - Sheet1

Question 1

What weeks encompass the first trimester of pregnancy?

Answer 1

Weeks 1-12.

Question 2

What weeks encompass the second trimester of pregnancy?

Answer 2

Weeks 13-27.

Question 3

What weeks encompass the third trimester of pregnancy?

Answer 3

Weeks 28-40.

Question 4

What is included in the assessment measures for genetic disorders?

Answer 4

Detailed family history (3 generations), physical exams of parents and affected children, lab blood tests, amniotic fluid, and maternal/fetal cell analysis.

Question 5

What routine screening is offered in the first trimester to evaluate chromosomal disorders?

Answer 5

Nuchal translucency sonogram and maternal serum analysis of Alpha-fetoprotein, PAPPA-A, and free beta hCG.

Question 6

Who may be offered additional genetic testing like CVS and amniocentesis?

Answer 6

Women over age 35 or those with abnormal genetic screening results.

Question 7

What is the purpose of procedures like CVS and amniocentesis?

Answer 7

To diagnose chromosomal genetic disorders.

Question 8

What roles do nurses play in genetic assessment and counseling?

Answer 8

Obtain family history, assist with physical exams, collect blood serum, and assist with procedures like amniocentesis.

Question 9

What is the timing for a nuchal translucency test?

Answer 9

Between 11-14 weeks.

Question 10

What is the process for a nuchal translucency test?

Answer 10

Ultrasound to assess fetal neck thickness and maternal blood analysis.

Question 11

Is a nuchal translucency test invasive or noninvasive?

Answer 11

Noninvasive (sonogram and blood draw).

Question 12

What does a nuchal translucency test screen for?

Answer 12

Down syndrome, trisomy 18, and trisomy 13.

Question 13

When is chorionic villus sampling (CVS) performed?

Answer 13

Between 10-12 weeks (first trimester).

Question 14

What is the process of CVS?

Answer 14

Biopsy of placental tissue.

Question 15

Is CVS invasive or noninvasive?

Answer 15

Invasive.

Question 16

What are the risks of CVS?

Answer 16

Risk of miscarriage.

Question 17

What does CVS diagnose?

Answer 17

Chromosomal abnormalities.

Question 18

What is the timing for maternal quadruple marker screening?

Answer 18

Between 15-20 weeks.

Question 19

What is the process of maternal quadruple marker screening?

Answer 19

Maternal blood draw.

Question 20

Is maternal quadruple marker screening invasive or noninvasive?

Answer 20

Noninvasive.

Question 21

What does maternal quadruple marker screening detect?

Answer 21

Down syndrome, trisomy 18, and open neural tube defects.

Question 22

When is amniocentesis performed?

Answer 22

Between 15-18 weeks.

Question 23

What is the process for amniocentesis?

Answer 23

Collection of amniotic fluid containing fetal skin cells through the maternal abdomen.

Question 24

Is amniocentesis invasive or noninvasive?

Answer 24

Invasive.

Question 25

What are the risks of amniocentesis?

Answer 25

Risk of miscarriage.

Question 26

What does amniocentesis diagnose?

Answer 26

Down syndrome and other chromosomal abnormalities.

Question 27

When is a fetal anatomy scan performed?

Answer 27

Between 18-22 weeks (second trimester).

Question 28

What is the process for a fetal anatomy scan?

Answer 28

Ultrasound of the fetal anatomy.

Question 29

Is the fetal anatomy scan invasive or noninvasive?

Answer 29

Noninvasive.

Question 30

What does a fetal anatomy scan screen for?

Answer 30

Delta anomalies (e.g., cleft lip, club foot).

Question 31

What are common genetic disorders detectable by maternal serum, amniocentesis, or CVS?

Answer 31

Down syndrome (trisomy 21), trisomy 18, trisomy 13, Cri-du-chat syndrome, Fragile X syndrome, Philadelphia chromosome, Turner syndrome, Klinefelter syndrome.