CBL 3_Routine genetic and fetal testing

Question 1

Who is offered SIPS?

Answer 1

Less than 35 yo

Question 2

Who is offered IPS?

Answer 2

35-39
Twin gestation
Pregnant following IVF without genetic screening

Question 3

What is 40+ offered for genetic screening?

Answer 3

IPS or CVS or Amnio without screening

Question 4

Who is offered funded NIPS (or amnio/cvs without prior screening)?

Answer 4

Personal/family history that increases risk of fetus with down syndrome, trisomy 18 or trisomy 13

Question 5

When is SIPS offered?

Answer 5

1st 9-13+6(9-14)
2nd 14-20+6(14-21)

Question 6

When best timeframe for SIPS?

Answer 6

1st 10-11+6(10-12)
2nd 15-16

Question 7

When is IPS offered?

Answer 7

Same as SIPS NT US 11-13+6 (11-14)

Question 8

When best time for IPS?

Answer 8

Same as SIPS NT US 12-13+3 weeks

Question 9

When NIPS offered?

Answer 9

After 10 weeks

Question 10

What test 1 SIPS looking for?

Answer 10

PAPP-A

Question 11

What is SIPS 2 looking for?

Answer 11

AFP
uE3
hCG
Inhibin-A

Question 12

What is IPS looking for?

Answer 12

Same as SIPS
NT US – looking at mm of nuchal folds

Question 13

What does SIPS and IPS screen for?

Answer 13

Trisomy 21, 18 and neural tube defects

Question 14

What is the earliest I could get results from SIPS?

Answer 14

9 week 1st test, earliest will be 15-16 weeks

Question 15

What does NIPS screen for?

Answer 15

Trisomy 21, 18, 13 and missing copies of XY chromosomes
NOT neural tube defects

Question 16

What is Quad?

Answer 16

Same as SIPS two

Question 17

How accurate is SIPS/IPS?

Answer 17

High false positive rate
Low false negative rate (negative is reassuring)

Question 18

How is SIPS/IPS results communicated?

Answer 18

1/300 under 35
1/500 35 over
=positive screen

Adjusted odds ratio

Question 19

Amnio timing and risk?

Answer 19

> = 15wks of gestation. 0.5%

Question 20

CVS timing and risk?

Answer 20

11-13+2 wks. 1-2%

Question 21

Chance of NTD in all people?

Answer 21

1/1000

Question 22

What is the accuracy of NIPS?

Answer 22

Low false positive rate and low false negative rate.

Question 23

Risk factor for Thalassemia?(8)

Answer 23

one or both parents having ancestry from the Mediterranean,
Arabian Peninsula,
Turkey,
Iran,
Africa,
India,
southeast Asia, or
southern China

Question 24

Risk factors for Tay Sachs?(2)

Answer 24

French Canadians from southeastern Quebec are at an increased likelihood of carrying. (2)
Also a high likelihood in people of Ashkenazi Jewish descent

Question 25

When is routine anatomy scan done?

Answer 25

18-22 weeks

Question 26

What is routine anatomy scan looking at?(9)

Answer 26

Number of fetuses
Fetal measurements
Fetal anatomy
Number of vessels in umbilical cord
Amniotic fluid volume
Placental position
Maternal anatomy (cervix, bladder,etc)
Fetal sex
Congenital anomalies