Prenatal Visit Flashcards
what do prenatal genetic tests screen for
estimate risk for down syndrome, trisomy 21 and open neural tube defects
what factors determine what screening is offered
gestational age at time of presentation
maternal age at time of delivery
whether pregnancy is singleton or twin gestation
to whom is nuchal translucency (NT) offered
women at higher risk of having a fetus with down syndrome or trisomy 18
women with twin pregnancies
what is SIPS
“serum integrated prenatal screening”
should be offered to ALL pregnant women in BC
what is IPS
“integrated prenatal screen”
this is SIPS in combo with nuchal translucency ultrasound
who should be offered IPS (NT with serum screen)
- women 35 years or older at EDD
- women with twin pregnancies
- women pregnant following IVF with intracytoplasmic sperm injection (ICSI)
who should be offered SIPS
all pregnant women in BC
which patients should be offered amniocentesis
women 40 or older with singleton pregnancy
or
women 35 or older with multiple gestation pregnancy
is NIPT covered or out of pocket
usually out of pocket but is provincially funded for some women
for which women is NIPT provincially funded
- women with a positive screen result from IPS, SIPS or the quad tests
- women who have a documented history of a previous child or fetus with down syndrome, trisomy 18 or trisomy 13
- women whose risk of down syndrome is equal to or greater than 1/300 based on the finding of the U/S marker(s) and results of SIPS/IPS/quad
list the options available for prenatal genetic screening
SIPS IPS quad NIPT detailed second trimester U/S
what are some of the factors that go into determining risk for down sydrome, trisomy 18, and open neural tube defects
biochemical serum markers from blood work
maternal age and ethnicity
maternal weight
maternal diabetic status
maternal smoking
NT U/S measurement if available
what does SIPS involve
measurement of 1st trimester PAPP-A and second trimester quad markers
two separate blood tests
quad markers are alpha feto-protein (AFP), unconjugated estriol (uE3), human chorionic gonadotropin (hCG) and inhibin-A
when is the first test for SIPS drawn
first blood test is collected between 9-13+6 weeks (best 10-11 weeks)
this is the PAPP-A test
when is the second test for SIPS drawn
14-20 weeks (best 15-16 weeks)
this is the quad test
when are the SIPS results available
10 days after the second blood test (the quad)
what markers are part of the quad screen
quad markers are:
alpha feto-protein (AFP)
unconjugated estriol (uE3)
human chorionic gonadotropin (hCG)
inhibin-A
what does IPS involve
first trimester PAPP-A and NT U/S plus the quad in the second trimester
(blood test timing is the same as SIPS)
when is the NT done for IPS
11-13+6 weeks (best 12-13 weeks)
when are the results from IPS available
10 days after the second blood test (same as SIPS)
what happens if the NT U/S measurement is high
results in a positive screen
counselling and further testing are offered PRIOR TO completing the second blood test
further tests: (and/or)
NIPT
chorionic villi sampling (CVS)
amniocentesis
which women should be offered the quad screen
this should only be offered to women who present late for prenatal care (2nd trimester) as SIPS and IPS have better screening performance with lower false positive rates so if possible, these should be offered
what is NIPT
non invasive prenatal testing
blood test which analyzes free fetal DNA circulating in maternal blood
tests for down syndrome, trisomy 18, trisomy 13, sex aneuploidy
how effective is NIPT
detection rate for down syndrome in singleton pregnancies approaching 100% and 97% for trisomy 18
false positives are 0.1%
what is particularly important for accurate screening results
accurate gestational age, determined by first trimester dating U/S
what does maternal AFP screen for
open neural tube defects
only has a detection rate of 70%
the detailed U/S at 18-20 weeks has a higher detection rate for ONTDs (thus if the woman gets NIPT, or chooses not to screen for down syndrome, better to screen for ONTDs by this detailed U/S than by the serum AFP test)
in which women should you offer a maternal serum “AFP only” screening for ONTDs?
women with a BMI 40 or above
women with limited access to 18-20 week U/S
how do you counsel women about prenatal screening
it is THEIR CHOICE to undertake screening
information about prenatal genetic screening should be given to pregnant women at the first contact with a healthcare professional–this should occur in the first trimester, ideally prior to 10 weeks GA in order to ensure that the appropriate early tests are performed if desired
when should you ideally send women for the quad/second trimester portion of their screening
as early as possible within the alloted timeframe (14-20+6 weeks… best at 14-15 weeks)
this allows for earlier results and f/up (NIPT or amnio) if necessary
does screening provide a definitive diagnosis
no, only an estimation of risk