Genetic Testing PPT

Question 1

What happens in chorionic villus sampling (CVS)?

Answer 1

Fetal cells are obtained from the chorion layer, which is part of the placenta, to help in genetic concerns

Question 2

When is the ideal time to do CVS?

Answer 2

10-13 weeks

Question 3

What are some uses for ultrasound?

Answer 3

• Fetal heart activity
• Gestational age
• Fetal growth and anatomy
• Fetal genetic disorders and physical anomalies
• Placement, position, and function
• Fetal well being

Question 4

What kind of fetal genetic disorders and anomalies can an ultrasound show?

Answer 4

• 10-14 weeks can show nuclei translucency at nap of neck
• Trisomies 13, 18, and 21
• Risk for cardiac disease

Question 5

What does MSAFP do?

Answer 5

Screen for NTD

Question 6

What are examples of NTD that MSAFP can screen for?

Answer 6

Spina bifida

Anencephaly

Question 7

When is MSAFP screening done?

Answer 7

15-20 weeks gestation

Question 8

What is MSAFP?

Answer 8

Blood sample

Question 9

T/F: After MSAFP, there should be a follow up with amniocentesis or CVS

Answer 9

Yes

Question 10

What is amniocentesis?

Answer 10

Obtaining amniotic fluid

Question 11

What is in amniotic fluid obtained from an amniocentesis?

Answer 11

Fetal cells

Question 12

Do we need to have an ultrasound to do amniocentesis?

Answer 12

Yes, must have ultrasound

Question 13

When is amniocentesis done?

Answer 13

Around 14-16 weeks