Serial Sequential Screening Results

We actually got these results back last Friday (11/8), but I sort of forgot all about it after reading the e-mail from my midwife. I read it walking up to Ashton's apartment, showed him the results when I got inside, and said "I'll have to text my mom later" and then completely forgot about it! Pregnancy brain! lol

So anyway, back at our very first appointment (10/4) with Elizabeth she offered us seven options regarding Down Syndrome screening. Amniocentesis, CVS, First trimester screen (ERA), Serial/Sequential testing, Maternal Serum AFP-4, Genetic Ultrasound, or no Down Syndrome testing. Ashton and I talked about it, and decided that we did want to do some type of screening even though given my age, baby already had a low risk for DS. Right away I decided against Amniocentesis and CVS because they are invasive tests that require inserting a needle into the amniotic sac or placenta with risks (1/400 for Amnio and 1/100 for CVS) of miscarriage. (Other people may opt to have these done since they both have a 99% detection rate, which is the highest of any of the tests, and can be done the earliest in pregnancy--CVS can be done at 11 weeks!) We also decided that if we were going to take the time (and $$) to have a screening done, it should be one with a high accuracy rate. So we ruled out the First trimester screen (85% detection rate with 5% false positives) and the Maternal Serum (81% detection rate with 5% false positives).

In the end, we decided (also with Elizabeth's recommendation) to do both the Serial Sequential screening and the Genetic Ultrasound. Our reasoning: Serial/Sequential is a non-invasive test, requiring an ultrasound of the baby's neck (yay another chance to see our peanut!) and two maternal blood tests (I did mine at 12 & 16 weeks), it has the second highest detection rate (95%), and we were comfortable doing the two rounds of labs and waiting five weeks for the results. We also chose the Genetic Ultrasound (yay, yet ANOTHER chance to see our little one, hehe), because it also serves as an anatomy examination where all of the baby's limbs, organs, facial features.... EVERYTHING is measured and observed in detail and the tech can look for other abnormalities as well. They also do a quick check-up on my ovaries, the placenta, and amniotic fluid. :) Even though the Genetic Ultrasound only has a 70% detection rate and an 8-12% rate of false positives for DS, we really wanted the anatomy scan done since it is non-invasive, another opportunity for an ultrasound, and it is covered by all insurance companies!!

Our time table of appointments --> The Serial Sequential ultrasound and first blood test was on 10/10 @ 12 weeks and the second blood test was on 11/7 @ 16 weeks. I got my results from my midwife on the morning of 11/8 (very speedy!). Our Genetic Ultrasound is scheduled for 11/20 @ 18 weeks.

Mine and sprout's risk factors: my age (25), NT* measured during the ultrasound (1.8mm), and the two labs (I didn't see direct results, but were told they were in an excellent range).
*Nuchal translucency = measurement of the fluid developing behind the baby's neck during the first trimester

Risks                          Pre-Test+                  Post-Test++
Down syndrome*            1 in 1,000                  <1 in 10,000
Trisomy 18**                   1 in 10,000                <1 in 10,000
Open NTD***                    1 in 1,000                  1 in 5,400

*Trisomy 21, or Down Syndrome, is caused by a chromosomal defect and often causes physical growth delays and intellectual disability
**Trisomy 18, or Edwards Syndrome, is caused by a chromosomal defect and has a high fatality rate in infancy
***Open NTD, or Open Neural Tube Defect, means the baby has an opening in the spine or head. The most common form is Spina Bifida, which means the spinal cord is exposed and can be easily damaged.
+Pre-test results are estimated results before the second trimester maternal blood test. If these results are in the positive range, the mother will be notified as soon as possible to discuss options for additional screenings.
++Post-test results are the final results of all risk factors combined (maternal age, NT measurement, first and second trimester maternal blood tests)

Lightly put, sprout has a less than 1 in 10,000 chance of having a chromosomal defect, which is really as good as it gets! Now we are patiently waiting for our Genetic Ultrasound next week. I am so excited, mostly because I want to see and hear my baby again, and because I am like 100% confident that they aren't going to find anything wrong with her. Oh yeah, and with the anatomy scan they just might be able to take a peek between baby's legs and give us some more good news! **Fingers crossed!**



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