High risk for down syndrome

Brooklyngirl6 · June 2017

Hi! I've been lurking and not great at participating. Sorry. I will be better at that now that it's summer and I'm off (teacher).

I was wondering if anyone had an experience with first tri screenings. So my Sequential 1 screening just came back with an increase risk for Downs Syndrome. I have an ultrasound scheduled for next Thursday morning with the maternal fetal specialist. Anyone been through this? What should I expect? I believe these tests aren't extremely accurate because they deal with ratios and such. My OB told me she didn't want to down play the risks but not to be too worried yet. Unfortunately I am too far along (14 weeks) for the cvs but if the ultrasound shows any markers I could consider an amniocentesis. Just looking for other's experiences. Thanks!

eta- changed the title to see if I could get more input.

flowerpower5838 · June 2017

Brooklyngirl6 Mine also came back elevated for my age (but still not high) after the NT scan. Remember the sequential screening is JUST a screening, not a diagnosis or test. I elected to get the NIPT (panorama, maternit21, etc) for peace of mind, as recommended by my OB and MFM. If that shows anything we will probably elect for more invasive testing as ****TW we would likely terminate with a DS diagnosis /end TW**** I think they can also tell more once you are further along for the anatomy scan. Good luck and try not to stress!

thatlauragirl · June 2017

Hey! I'm so sorry you're dealing with the stress of this! **TW** I lost my son last May due to heart abnormalities that were a result of his T21 and T18 diagnosis. I'm not familiary with Sequential 1 - is that a screening test as part of N/T scan quad screen testing or is it an NIPT? If it's part of a quad screen, I can tell you that the rate of "false positives" is fairly high. I had the NIPT which pulled my baby's DNA from my blood and detected the trisomies. There's a much lesser risk of a false negative with that test but your OB will still recommend a diagnostic test (amnio at this point) to confirm the diagnosis.

Your MFM will be able to give you an extensive understanding of the screening results along with the probabilities of false positives at your appointment next week. Did you have the N/T scan at 12 weeks? Any idea what the measurements were?

I'm pretty sure that the testing you had the fetal nuchal translucency and maternal serum free betahCG and pregnancy associated plasma protein-A testing. If that's the case, your odds are still overwhelmingly great that all is well!

If you do decide on an amnio, they will most likely have you meet with a genetic counselor prior to the appointment who will help you understand the interpretation of the screening results, your risk based on the hereditary factors of you and your partner, and more detailed information about the amnio procedure and results.

If you need anything or have any questions, please let me know either here or by pm. Wishing you and your baby the absolute best.

wabash15 · June 2017

@brooklyngirl6 I second what the other ladies have said, that these screening tests just indicate risk and not an actual problem I'm guessing you will meet with a genetic counseler who will talk to you about your testing options, you'll have an US and then sit down with the MFM and figure out where to go from here.

@flowerpower5838 I am sorry you might be faced with such a tough choice. I hope your NIPT comes back clear

@thatlauragirl I'm sorry for your losses.

Brooklyngirl6 · June 2017

@flowerpower5838 good to know that those tests are available to find out. I hope results come back normal. Hugs.

@thatlauragirl I am so sorry for your loss. Yes the test is part of the NT scan. All measurements were normal but the blood test came back with an elevated risk. 1:23. Thank you for all the info. If the ultrasound comes back with risk still we will have to decide where to go next.

@wabash15 thanks! Hopefully the screening is a false positive.

breezybee · June 2017

@Brooklyngirl6 sorry you're having to worry about this. I have no experience in this area, but the advice of the other ladies sounds good. Hope everything turns out well.
@flowerpower5838 Im sorry you're in this position. I also hope that everything comes back ok. Hugs girl.

Tennis11785 · June 2017

@Brooklyngirl6 - Hopefully after the MFM takes a look, they decide its a false positive. With my last pregnancy, the measurements were abnormal, and the genetic counselor was able to give me percentage ranges for the various situations (X percent it's downs; x percent its a genetic disorder; x percent it's other issue, x percent its healthy). Hopefully you're able to get something similar at the MFM appointment to help you understand the risks and the potential next steps. Good luck and I'll be thinking of you.

anewadventure · June 2017

You might want to consider also posting in November 2017, I know some of their ladies had to go through this same sequence and they could offer insight and reassurance.

I'm sorry you are dealing with the extra worry. I second PPs in that the likelihood of false positive at this point is high. I hope your MFM is able to provide you with enough information and that the ultrasound looks good. If you do decide for amniocentesis, I know many women who have had the procedure done with no issues and it certainly provides you with more concrete information to go off of.

Good luck! Please keep us updated! Same to you @flowerpower5838!

Brooklyngirl6 · June 2017

Thank you @Tennis11785 @anewadventure

Marley629 · June 2017

@Brooklyngirl6 my sequential 1 also came back elevated risk (1/200) for downs. I also had the maternit21 testing which came back negative. The OB still had me meet with a genetic counselor because the odds are less than 1/1000 she said. The genetic counselor eased my mind and said while she couldn't definitively telll me he doesn't have it, the risk was less than 1.5% and that my scan at 20 weeks would indicate if there was a greater concern. The key thing to remember here and other ladies above have pointed out is that it's a screening test and not diagnostic. But your fears are totally valid and it's very scary to hear that there's an elevated risk of anything. I hope that any further testing puts your mind at ease and that everything is alright!

FakeFinn · June 2017

@brooklyngirl6 I don't have any experience in this area, but wanted to say that I hope that everything turns out well for you and baby.

kdeg8 · July 2017

Going through the same right now, except my 12 week came back fine, my 16 week blood work came back high risk. I just did more blood work, different test and am waiting (in agony) for those results before I go ahead with the amnio test. I did meet with a genetic counselor yesterday.

splsmama2016 · July 2017

Look into the DSDN (Down Syndrome Diagnosis Network) either on fb or just a general google search. In my last BMB, we had a mom who's little girl has DS and she honestly hasn't let her diagnosis stop her. She is the newest Zulily Cutie, and she's also reached some baby milestones faster than most of the babies in our group did. While waiting for the actual diagnosis can be beyond unimaginable, sometimes having that "Homie with an extra Chromie" can be a blessing. The amount of support and research, information and everything that there is today is amazing.

Fingers crossed that you get a clear diagnosis, but know that even if LO happens to have DS, you have the support of everyone here, and hundreds of thousands of parents nationwide. DSDN has literally been an amazing resource for my friends family.

thatlauragirl · July 2017

@Brooklyngirl6, just checking in on you. How did the ultrasound go? Crossing my fingers all is well!

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