First Trimester Genetic Testing Results - Nervous

[Rachelette]

I had my Maternal Serum Screening & Nuchal Translucency/Nasal Bone Sonogram to assess risks for Down Syndrome, trisomy 13, and trisomy 18, and my risk for Down Syndrome came back as 1 in 23.  

I'm going to be 40 at delivery and I know that factors into it but the free beta-human chorionic gonadotropin (hCG) came back in the 95% and pregnancy associated plasma protein-A (PAPP-A) was in the 10th percentile, so although the nuchal transparency came back looking good and the technician found a nasal bone, that is what sent up the red flag.

My midwife encouraged me to get CVS, and I'm going in for the test tomorrow.  I'm just pretty nervous right now.  I know there is a 5% rate of false positives with the testing I had and tons of anecdotal evidence that its not terribly accurate.  But the CVS is supposed to be diagnostic and be 99% accurate....

Any comforting stories?  Any advice? 

[mama2mmj]

Ive never had any testing done so I dont have any advice but I just wanted to

[TalkToMeNow]

I'm sorry, I don't have any advice. Just wanted to say I am thinking of you. Good luck.

[canadiangranola]

no advice here either, just that as a 37 yr old mama to number four, I can understand the fear you must be feeling right now. I hope your test goes smoothly today and that you find peace in the storm, no matter the results.

[octanebeetle27]

My younger sister (mid 20's at the time) had a funky result on her AFP. I believe it came back indicating that the baby had a higher chance of having Downs. They opted not to do amnio but did two seperate sonograms during weeks 18-21 (they did not have health insurance at the time and could not afford an amnio). The sonograms were inconclusive. The perinatalogist sat my sister and her husband down and said that he could not rule out the possibility of the baby having Downs and said that if they wanted to terminate the pregnancy, there was still time (this was at 21 weeks...) and that they could do it this week.  My sister and her husband decided they wanted to continue the pregnancy even if the baby had problems but they worried and stressed for the remainder of the pregnancy. I believe she had one more u/s at the begining of the third trimester and the baby looked good so they were a little more confident that she did not have Downs but still couldn't be sure. Anyway, my niece was born completely healthy.  6 years later, my sister still talks about how close they came to aborting their daughter. After seeing what my sister went through with all of that, I'd be hard pressed to have complete faith in prenatal testing. Just our family's experience though. 

I hope that you get comforting results--it would be awful to have to worry! There is already so much worry that naturally comes with pregnancy anyway! Hugs mama!

[Jaimee]

I agree with all the pp's. I've never done the testing, but wanted to say

[dashley111]

   I don't really have any input that has not already been said.  The false positive results for this test are high, and even higher for women over a certain age...

Hang in there, and try not to stress.  Just enjoy that baby, and try to enjoy your pregnancy!

[Rachelette]

I had a rough time with the CVS, because it turns out that my fibroids were in the way every way they tried to get in, my uterus is retroverted and the placenta was hard to access. They called in 2 doctors and ended up having to manually flip my uterus, move my fibroids around and then go in through the belly. And they tell you its a "little pinch." So I was unprepared for the pain when the needle actually made it through the uterine wall. Luckily they were able to get the cells they needed and hopefully we will have some news by the end of Tuesday. 

And then they said it was good they were able to move everything because otherwise my fibroids would have "incarcerated" the fetus within a week... This is the first time I had heard that, and apparently it means this: http://medind.nic.in/jaq/t06/i4/jaqt06i4p346.pdf

I feel frustrated by the medical profession. I wish they would just tell you more about what is about to happen to you, instead of leaving you feeling unprepared and reacting to things instead of able to prepare for them. //rant.

[Jaimee]

Yikes!  So sorry you had to go through that!!! 

[MsVyky]

Mama, I'm sorry you're going through this. At my 20 week scan with my DD, they found several soft markers for Down Syndrome and cystic fibrosis, and used them to manipulate the results of my Quad Screen and it came back with a very high odds of my daughter having DS. I did decline invasive testing (they pushed for amnio), and she was born perfect and healthy. For that very reason, we have declined ALL screenings for this pregancy. For me, it's just not worth the heartache. I hope you get your results back soon, and you'll be in my thoughts. I know how scary it is to sit and wait (especially with Dr. Google at your disposal) *hug*

[Rachelette]

We got the preliminary tests (FISH)  back and all looks well.  Plus, we found out our little one is a girl <3 Final results next week.... 

[dashley111]

Thats great news!  Hope the final results look just as good :)  Congrats on the baby girl!

[granolamommy3]

I had a false positive for Downs with my daughter 3 years ago. It was heartbreaking and we could not get a conclusive answer without an amnio. The neonatologist that we were sent to was a total jerk. He did not even speak to me when he came into the room. He just told the nurse to prepare me for the U/S. I tried introducing myself and he grunted at me. He ended by saying. "Well, it looks okay." I said with joy, "So my baby is healthy?" He said, "I never said that. I am just saying that I don't see any markers. So are we doing an amnio or what?" I wanted to cry!

We decided not to do the amnio because of the risk of miscarriage. My husband and I were a wreck for the rest of the pregnancy. Even after she was born, she looked perfectly healthy, and we were wondering if there were visual markers that we just did not know about.

I kept waiting for one of the doctors or nurses to say something. It was not until the ped came in the next day and was doing an exam that I finally said, "Does she have Downs Syndrome?' The ped looked at me and started to laugh, "No,why would you think that?" I explained about the early test results.She told us they would have said something at birth if that was the case.

I know what you are going through and I wish you and your baby well. I am sure it will all turn out.

:-)

[Rachelette]

Granolamommy3, that is a horrible story!  I really am upset at the way medical professionals often treat us like our feelings are irrelevant.  So glad your daughter is okay!  

[Ratchet]

Perhaps we are sold the idea of these tests as "to be reassured that nothing is wrong" but that seems to very blindy avoid the obvious other side of that coin.  I understand why they are offered but in reality, those who are NOT "reassured that nothing is wrong" seem to have very little to gain from their results/ traumatic experience- ie, very few would terminate, most are false positives, and that leaves a minute number of women being perhaps better prepared for a baby with Downs, for whatever that's worth.  I could see wanting to know if you have an anomaly that is a contraindication to a home birth etc but that would not be picked up with 1st trimester testing, but more with a 20-week anatomy scan.  The goals of moms are not the goals of these tests and it sucks that they get marketed as "reassurance that nothing is wrong" when they are no such thing. 

[Rachelette]

Originally Posted by Ratchet 

Perhaps we are sold the idea of these tests as "to be reassured that nothing is wrong" but that seems to very blindy avoid the obvious other side of that coin.  I understand why they are offered but in reality, those who are NOT "reassured that nothing is wrong" seem to have very little to gain from their results/ traumatic experience- ie, very few would terminate, most are false positives, and that leaves a minute number of women being perhaps better prepared for a baby with Downs, for whatever that's worth.  I could see wanting to know if you have an anomaly that is a contraindication to a home birth etc but that would not be picked up with 1st trimester testing, but more with a 20-week anatomy scan.  The goals of moms are not the goals of these tests and it sucks that they get marketed as "reassurance that nothing is wrong" when they are no such thing. 

I agree with you in principle - with the high rate of false positives (I saw one study where the rate can be as high as 20% on the triple screening), its not a very reassuring test to get if you're an older mother, because its rigged to send you to invasive diagnostic testing.  Its part of the pervasive medicalization of birth - that people want to keep running tests and monitoring you in a way that ends up being pretty anxiety provoking.  That said, the majority of people who get a DS diagnosis do terminate - some studies show from 85% up.  

I am wondering whether or not to find another mid-wife because I definitely didn't feel like I got the support or information I needed from her, but I didn't educate myself either at that point.  Now I will be going into every appointment fully researched and ready with my decisions.  I am concerned that if she was so ready to push me into testing etc she'll be really ready to push me into medical interventions once the time for labor and delivery has come.   

[carolinaluna]

Glad I came across this post. I am scheduled to have this screening next week and now I am having my doubts. The possibility of a false positive terrifies me. I already have terrible anxiety about this pregnancy. I am 38 and it is my first. I have many chronic ailments, including major depression, fibromyalgia, and migraines. My age alone puts the baby at risk for genetic anomalies. I don't want the test to add to my anxieties. I would be crushed if I were told there's a chance of something being abnormal. Has anyone opted out of the test? I'm so stressed out!

[Jaimee]

Many of us opt out of most or all prenatal testing.  It is your right to do so and certainly warrants careful consideration.  There is actually another thread going on right now that Ash posted about the discussion she and her dh are having about testing.  Might be interesting to read some of those responses.  Good luck with your decision!