positive quad screen for DS at 20 weeks ADVICE?

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positive quad screen for DS at 20 weeks ADVICE?

Postby jamela163 » Sat Aug 06, 2011 5:11 pm

Hello ladies,

I'm a wreck right now and just wanted to get some input on these quad screens for down syndrome... I'm 20 weeks along, almost 32 yrs old w/ baby #1. We just got the news Thurs. from the OB that my quad came back as a 1;240 high risk ratio for downs. They set up a genetic consult and level 2 u/s (possibly amnio if I request it as well), but the earliest appt I can get is 2 WEEKS AWAY! I havent been able to eat, sleep, or function since getting this news 3 mornings ago and can't seem to get any additional info from the doc office. Has anyone else had experience with this issue? I just moved to PA from NYC and a specialist from home (NYC) whom i called today said it was disgusting theyre making me wait so long for an appt since I'm so far along already... I'm almost considering making 8 hour roundtrip to the NY dr. so stress & worry doesnt kill my baby.... Any advice appreciated:)
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Postby BrandyJ. » Sat Aug 06, 2011 6:44 pm

I'm so sorry you are going through this. I can tell you from knowing tons of mommas around here that a quad screen is NOT a good indicator something is abnormal. There are tons and tons and tons of false positives. If you google this, you shall see.

Personally, because it would not change my pregnancy at all, I'd skip the amnio and just stick with the sonogram. The amnio has a lot if risks that I'm not willing to take because I'd still carry my baby to term. However, I am a huge believer in education is power. If there is an abnormality then I'd like to know so I can study it, find the best doctors and learn how to care for baby. The amnio would give you the most accurate results, though. It's such a personal decision.

I've seen women with a 1:4 chance of downs and baby was normal!! Again, I'm so sorry for your fears. Statistics are in baby's favor.

((((hugs))))
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Postby jamela163 » Sat Aug 06, 2011 7:19 pm

Thanks for the kind encouragement... I've also heard a lot of neg things re: amnio, however, due to the fact I will be over 22 weeks when I finally see the specialist, I've been told it would be 2 late for amnio to be an option so I'm trying to cope with the fact the remainder of my pregnancy is pretty much ruined since I have extreme high anxiety as it is...let alone having to wonder and worry if my little boy is handicapped until he gets here in Dec.... If they would just give me an earlier appt. I would have options, if we decided to go that route... It's wrong and unfair to make someone deal with this and leave them no options when i'm sure theyre booked with appt's for women who are not even in their 2nd tri and have weeks if not months of time to reschedule...ahh venting..sorry:) Thanks again:)
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Postby fodla » Sat Aug 06, 2011 7:36 pm

I was sort of surprised to see that in your posts, actually - usually the quad screen and other Down's tests are done between 11-13 weeks for exactly those reasons. You have more options at that point.
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Postby BrandyJ. » Sat Aug 06, 2011 8:41 pm

Good point, fodla. I was wondering, too. Mine was always done in conjunction with my NT scan.
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Postby jamela163 » Sun Aug 07, 2011 12:57 pm

Thank you all again for the positive thoughts:) I'm trying to keep it together and hopefully the u/s tomorrow will ease my mind a little as well:) prayers! -J.
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Postby Lizc0002 » Wed Aug 17, 2011 5:42 am

Hang in there. My 3rd child (I was 39 so you can imagine the risks alone due to my age) had enlarged brain ventricles discovered, or at least revealed to me on a routine US to check my cervix (my first baby was a preemie born at 32 weeks so I had lots of US with this baby) My 5 year old daughter was at the appt with me (since it was just supposed to be a check of my cervix and i was pretty confident it was not shortening) when the doctor revealed that my baby could be very, very sick or it could be nothing.

I had to wait and entire month before I went back to see if the ventricles had grown. They had not and he was born 100% fine. I did a lot of research and a lot of crying and soul searching that month while I waited. I was terrified that this would ruin my family. DH would not opt to bring a child with problems into the world, whereas I would not abort a child no matter what...all I can suggest is to read as much as you can and see if you can find a support group. I found one by goggling and it helped to speak and communicate with other women who had gone through what I had.

Realize, no one is torturing you on purpose, it unfortunately takes time to schedule tests and unless it is a medical emergency to you or the child, it is normal unfortunately to have to wait as much as it stinks.

And lastly focus on those odds, 1 in 240, means that if there were 239 births only 1 of those children would indeed have Down's.

Hugs,

Liz
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Postby nicky-l » Tue Aug 23, 2011 2:58 am

Just reading your post and wondering how you are getting along? Sorry you have had such a stressful time.
@folda..quad screening is done in the 2nd trimester..and nuchal/combined is in the 1st trimester.

On a a personal note..my age related risk (39) for downs was 1:88 so in comparison I think you chances are excellent :)

Unfortunately after nuchal and blood my risk went up to 1:4 for downs and 1:2 for patau syndrome I was offered a CVS asap which confirmed baby had both (incompatible with life) and we said our goodbyes at 16 weeks. There is alot to be said for early screening..it is not available on our NHS where I live in the UK and I had to pay for it privately..I would hate to have gone through what i did at a later stage.

God bless xx
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Postby stacey0513 » Thu Sep 15, 2011 7:16 am

I am sure you have had your scan by now (and I hope and pray everything is fine) but I had a similar story with my first son. They called and said it was positive (not sure the ratio but i was only 24). Anyways went to the ultrasound and everything turned out great. I did not want the amnio because we knew we would have him no matter what and figured the ultrasound would tell us what we needed to know. Well he is now a HEALTHY, smart and happy 3 year old.
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Postby klbrown79 » Sat Mar 17, 2012 5:27 pm

All three of my kids came back with a 1:160 chance of DS, my two little girls ended up being healthy and my third little boy has Klinefelters syndrme. His came back as a positive for downs, but it is very manageable. How did everythign go?
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