Positive Quad Screen- scared and anti-amnio...

[Mama Monez]

I'm just looking for some encouraging words as I have been trying to remain calm...

At 15.5 weeks I took the quad screen (after NOT listening to my midwife who recommended not taking it because of so many false positives), and it came back abnormal for Downs, 1:164.

I immediately started freaking out and went the same day for an ultrasound and to meet w/genetic counselor.  Within 5 minutes of meeting with counselor, she had already pulled out her amnio folder and started showing me the procedure.  I began asking questions, like about a level 2 U/S, would that recalc risk if it was normal- all her responses were negative.  I asked why I wasn't even being recommended for a level 2 before an amnio and she said it doesn't help anything!

I had an U/S that day to check dates and the sonographer said everything looked good that she could see...I left that hospital confused and wondering if I really had to do the amnio...which I have never considered...

I went to a maternal fetal specialist just last week at 20 weeks and the level 2 sono was completely normal- DD is measuring perfectly normal, and there was no evidence of an DS markers.  I want to be at peace w/my decision to decline amnio and know that the odds are in my favor, but just wish I had a doctor who would back that feeling up.  Even though this specialist said there were no markers, she finished by saying how the baby could still have downs...and how the only way to know is by amnio and how my risk of downs baby is higher than risk of losing baby from miscarriage from amnio , so she strongly recommends...I live in NYC and know it is one of the most invasive hospitals that I went to, with a 34% c-section rate, so I'm trying to stay positive but I'm just so anxious...

[LilyTiger]

I think the big question is what you would do with the information from the amnio.  Would you terminate?  Because if not, there doesn't seem to be an adequate justification for an increased risk of miscarriage.  You may get some peace of mind, but in my own case it wouldn't be worth it.  Finally, keep in mind that that false positive rate is super high for those tests and your risk is still less than 1%.  Again, the only reason I can see that you would risk the amnio is if you're unwilling to take a Downs pregnancy to term.

[Mama Monez]

Thanks for the reply- I would not terminate at this point, and also feel that this would be the main reason for having the amnio...I guess its just the uncertainty and push for testing that has me feeling like somehow I'm not doing whats right, even though I feel it is.

[Bokonon]

Since there were no soft markers or physical concerns in the level 2, then you can feel more at ease that there is little risk.

1:164 is not very high at all.  Mine came back at 1:23 and 1:16.  Neither of my children have any chromosomal abnormalities, and my dates were spot on.

[Mama Monez]

Thanks Bokonon- I had the level 2 even though the genetic counselor said it wouldn't help reassess risk- there were no markers, hard or soft, which was very reassuring.  I was just bummed to hear the specialist say she still recommends amnio instead of saying this was positive news and that the odds are in my favor...

[Vegan Princess]

I think maybe what you are looking for from the amnio would be peace of mind for the rest of your pregnancy that everything is ok, right? Bc otherwise, you wouldn't do much with the info except possibly prepare more for dealing with a child with downs. I suppose it can't hurt to read up a bit, but based on the blood test, you have less than a 1% chance of baby having downs! And I would be very encouraged by that u/s not showing any markers. I can't tell you how many cases I've heard of of false positives and the unfortunate extra stress they add to an otherwise normal pregnancy. I'll be praying all is well with your baby! But it sounds like it probably is anyway. :-) 

Cindy

[JPiper]

So sorry you are having to deal with this stress...I went through the same thing with DD #2 about 4 years ago. Like you, I was not thinking I even needed/wanted the testing, b/c it no matter the result, it wouldn't change our plans, but my OB pushed for the screening by telling me they could actually provide in utero interventions or delivery decisions that could save a sick baby. My DH and I were extremely clear that we would be doing the screen for this purpose only--but would never consider termination and not to bring it up to us. My quad screen came back 1:7 for Down Syndrome.

I remember it so vividly.  I was just getting in to work on a Monday AM early and my office phone rang with my OB saying 'Sorry, the results are really poor.  Come right in to discuss'.  My DH had just left for a multi-day work trip with no phone signal...I just went to the appointment on auto-pilot and my OB was sitting there with ashes on his forehead (Ash Wednesday) telling me I should consider terminating.  I should have fired him on the spot...still makes me sick and  livid!  A couple of years later I ran into him while grocery shopping and I couldn't even stomach seeing him.

Anyway, we met with genetic counselors, did a ton of research, etc... My care  was transferred to the regional high risk perinatal center (so I didn't need to see/deal with jack ass MD any longer). Despite a lot of goading, we declined an amnio for the many  of the same reasons you listed.  I ended up with numerous other soft markers and complications (after 2 easy-breezy pregnancies and births).  My DH and I were absolutely at peace with our little baby, but we were concerned about her health needs of course...  My labor was induced about 4 weeks early due to various risks and factors that all indicated Down Syndrome.  We were as prepared mentally as could be, talked with other parents who have children (young and adult children) with DS , etc...  

I can tell you with 100% certainty, despite the concerns and worry, I was just as excited to meet our new LO as I had been with my first 2.  IT was a whole team of medical people when I was in labor, getting ready to deliver...crazy! I don't even think I thought about the DS when I first delivered.  I was just so, so in love with her.

BUT--As it turned out, our little girl was completely typical and healthy.  All the tests and indicators were wrong....

PM me if you want to chat and peace for a healthy, happy pregnancy and baby!

[greenmamato2]

Try to remember that to cover *THEIR* butts they have to recommend amnio even if other screens come back normal.  They can't tell you baby will be fine, in the rare, rare, off chance that your child may have something like Down Syndrome. From the percentage rate that your baby *MIGHT* have it from the first ultrasound, and then the markers all looking fine on the second ultrasound, I'm going to give an educated guess that you're just fine. 

As a parent of a child with special needs, I can also say that if it DOES come to that, I promise you that you will still love this baby - maybe even more if that is possible - and that while it may not be a life that you originally dreamed of, it is a pretty incredible one.  Down Syndrome is also one of the "luckier" special needs, if there is such a thing, because developmentally, most people with Down Syndrome are able to talk, care for themselves, etc (I would give anything for my daughter to be able to do those things).  My point being that, while I hope upon hope everything is going to be as perfect and wonderful as your latest scan shows, if on some really obscure off chance your child has Down Syndrome, I promise you that not only will you get through it, but your life will change in amazing ways and you will still have an incredible relationship with a beautiful child you love. :)

Edited by greenmamato2 - 4/16/12 at 6:44am

[JPiper]

FYI  PP's-- the term is Down Syndrome, not 'Downs' Syndrome.  A child who might happen to have Down Syndrome is not "Downs", they are a person who has a genetic condition.... ie--a CHILD (with Down Syndrome) vs. a DOWNS baby.  It might seem like a small difference, but it is an important one.

I'm not trying to be snarky, just trying to educate so you can be as supportive as possible to families and individuals who have a person with Down Syndrome in their life 

[greenmamato2]

I changed my post to reflect the better description, thanks!

[JPiper]

  Also, I totally agree with the butt covering bit....  I think a lot of good, evidence based decision making gets buried in the nonsense that comes with covering the collected asses of the medical/insurance establishment.

Peace OP!  All the best with your pregnancy and decision making!

[LilyTiger]

JPiper, not to hijack the important conversation going on above, but either Down Syndrome or Down's Syndrome are used.  The syndrome was named after the first doctor who described the condition, so "Down's syndrome" (using the "s" as a possessive) is also correct.  I agree with the second part of your post though.  

/endthreadhijack.

[Jessica Young]

Well.... Really... if the baby has DS, then it does. I wouldn't risk an amnio if you wouldn't abort a DS baby. The doctors can't see or treat any possible problems until after baby is here anyway, so it is better to wait it out. Those AFP tests aren't always accurate anyway. I would just proceed as normal but prepare yourself just in case. Don't stress yourself out.

[AmiMom]

We had a positive quad screen with our last pregnancy and our daughter does not have downs. Nor does my niece, who also had a positive quad screening. For us, the amnio was not worth the risk. I will never get that screening again. I'll be thinking you and sending peaceful thoughts your way!

[sahmof2]

I am 20 weeks pregnant and around 16 weeks I had a quad screen done and it came back high risk 1:8 of having DS. After some coercing I decided to get an amnio (I was terrified and always said I would never get one) I'm glad I did! (I don't think I'd ever do it again! Same for the quad screen) Although it was scary I found out that (although I would NEVER terminate) my baby did not have DS. I also found out that she has something called an Omphalocele (it's where the intestines or other organs are outside the body) I had been soooo stressed and worried before I knew what was going on for sure but having the amnio put me at ease! I had prepared myself as best I could for a DS baby...It mainly scared me more because I have 3 other kids and no support (including baby's dad)...I hope you find comfort in whatever you have chosen to do! I'm sure everything is fine :) Good Luck Momma!

[tinyblackdot]

I have had 3 friends that tested positive on the quad screen and they where all false positives. I think the statistic is something like 50% of tests come back positive, and out of those 50% only like 5% are actual positive for down syndrome.

Here ""The quad screen correctly identifies about 80 percent of women who are carrying a baby who has Down syndrome. About 5 percent of women have a false-positive result, meaning that the test result is positive but the baby doesn't actually have Down syndrome." -Mayo Clinic

"The controversy in these tests lies in many places. One of which is the accuracy of the screenings. While some claim that they have only a 5% "false positive" rate, most research finds that there are 80+% rate of positive tests while the baby is unaffected. The false positive rates depend on many factors, including appropriate gestational age, maternal age, weight and the presence of diabetes."  -Robin Elise Weiss

[Mama Monez]

Thanks for all the support! I had the screen three months ago now, and have been through a lot of emotional ups and downs over it, but have finally relaxed, and it was mostly due to speaking with a Maternal Fetal specialist that my MW sent me to with my first dd.  With her, she had the calcium deposit on her heart (although no other markers), and the doctor I was seeing at the time said this was a marker for downs....I was young and knew nothing at the time, and he also pushed for an immediate amnio, I was so confused, and it was actually the reason I started seeing my HB midwife...

Long story short, she sent me to this amazing perinatologist (who home birthed all five of his own children!) and he assured us that nothing was wrong, and the spot would go away, which it did.  DD was born totally healthy, and it was only him that gave me peace of mind during that pregnancy...The only problem was he moved out of NYC and I couldn't go back to him to see if there really was a problem this time! So I finally just called his office where he is head of perinatology now, and gave my whole story to the nurse who said she would relay the message but wasn't sure he would return my call.  

The next day he himself called, I gave him all the stats- he immediately said my risk was halved by the fact that I gone to NYU and saw experts who can identify a multitude of fetal abnormalities- this he said, made my new risk 1/330, which is not high risk, and I should just do nothing:)  It was such a relief to speak to a dr and specialist who DID NOT just try and cover his own ass and push a procedure!

Its not a baby with downs of a special need child that made me so unsettled, it was really the unknown...I am fully aware you can never know for sure until a baby is born that it is completely healthy, but I have been reassured by the numbers, speaking to the doctor and feel settled now  Only a few more months till we finally get to meet her!! 

[olien]

I havent read all of the replies, but just wanted to share my experience. My bloodwork showed for Down Syndrom a 1:67 with my DS(#1) & a 1:9 with my DD (#2). Both of them are Normal! We did quite a few advenced ultrasounds on the heart too & they showed no problems so we did not do an amnio. I read back then that once you have a false positive you will continue to have false positives.