CBL 3_Routine genetic and fetal testing Flashcards
Who is offered SIPS?
Less than 35 yo
Who is offered IPS?
35-39
Twin gestation
Pregnant following IVF without genetic screening
What is 40+ offered for genetic screening?
IPS or CVS or Amnio without screening
Who is offered funded NIPS (or amnio/cvs without prior screening)?
Personal/family history that increases risk of fetus with down syndrome, trisomy 18 or trisomy 13
When is SIPS offered?
1st 9-13+6(9-14)
2nd 14-20+6(14-21)
When best timeframe for SIPS?
1st 10-11+6(10-12)
2nd 15-16
When is IPS offered?
Same as SIPS NT US 11-13+6 (11-14)
When best time for IPS?
Same as SIPS NT US 12-13+3 weeks
When NIPS offered?
After 10 weeks
What test 1 SIPS looking for?
PAPP-A
What is SIPS 2 looking for?
AFP
uE3
hCG
Inhibin-A
What is IPS looking for?
Same as SIPS
NT US – looking at mm of nuchal folds
What does SIPS and IPS screen for?
Trisomy 21, 18 and neural tube defects
What is the earliest I could get results from SIPS?
9 week 1st test, earliest will be 15-16 weeks
What does NIPS screen for?
Trisomy 21, 18, 13 and missing copies of XY chromosomes
NOT neural tube defects
What is Quad?
Same as SIPS two
How accurate is SIPS/IPS?
High false positive rate
Low false negative rate (negative is reassuring)
How is SIPS/IPS results communicated?
1/300 under 35
1/500 35 over
=positive screen
Adjusted odds ratio
Amnio timing and risk?
> = 15wks of gestation. 0.5%
CVS timing and risk?
11-13+2 wks. 1-2%
Chance of NTD in all people?
1/1000
What is the accuracy of NIPS?
Low false positive rate and low false negative rate.
Risk factor for Thalassemia?(8)
one or both parents having ancestry from the Mediterranean,
Arabian Peninsula,
Turkey,
Iran,
Africa,
India,
southeast Asia, or
southern China
Risk factors for Tay Sachs?(2)
French Canadians from southeastern Quebec are at an increased likelihood of carrying. (2)
Also a high likelihood in people of Ashkenazi Jewish descent
