First Trimester Screening Woes

serah-2 · July 2016

hi y'all.

just got off the phone with the genetic counselor. Unfortunately our first trimester screen came back abnormal. The NT ultrasound was normal but my bHCG was slightly elevated and PAPP-A was very low (5th percentile). Doc said this put us in a "very high risk" category for Down's syndrome with a 1:154 chance.

She also mentioned that the very low PAPP-A could be indicative of placental problems like IUGR or preeclampsia.

Naturally my mind is going crazy. I know 1:154 is still a low chance but calling it "very high risk" made me so uneasy. I will love our child no matter what, I'm just terrified of any possible conditions. I've been crying my eyes out with worry.

we were offered another blood test that is more accurate and checks the cell free DNA. We're going to do this before considering an amniocentesis due to the risk factors.

i really hope no one else is in this boat because it sucks! But if you are or were with a previous pregnancy could you please share your story and make me feel a bit better?

gigantan · July 2016

My second DD came back with results of 1:95 chance of downs. Needless to say I felt as you did. I got the blood test, the harmony test and that came back normal and she is the spunkiest LO I know. That was a nerve wracking moment in time that turned out fine. Good luck with your testing; I hope you you have peace of mind.

KRB22 · July 2016

Unfortunately I'm in a similar boat right now, and don't have much more information.

I had my NT scan and associated bloodwork last week (13 weeks). Everything on the scan was normal, but we were told there might have been a twin that didn't survive. Apparently the radiologist saw an empty sac on the scan. I was very surprised to hear this since I had had ultrasounds at 6 and 8 weeks, and there was only ever 1 baby and 1 heartbeat. My midwife said it's likely the 2nd baby never really developed. So that was strange news, but we were really just happy to see our healthy baby growing normally and moving around in there.

2 days ago I got a call saying the bloodwork had come back and showed an increased risk of DS. I believe the odds are 1:253, based solely on the fact that my bHCG was elevated (PAPP-A was normal). I was referred to a maternal fetal medicine doctor and genetic counselor, and luckily we were able to get an appointment yesterday.

Had another, more detailed ultrasound yesterday and everything still looks great with the baby. The MFM did not see evidence of a 2nd baby, but confirmed that if there was a vanishing twin that could have impacted my bHCG levels.

The genetic counselor recommended we do the cell-free DNA screening via Maternit21, because that is more accurate than the bHCG/PAPP-A screen. (We had been offered this earlier, but didn't go ahead once we learned of the possible 2nd baby, since we knew that might create a false positive). We went ahead and had the blood draw for Maternit21 yesterday, and are now waiting for the results - could take up to 2 weeks.

I'm 14 weeks now and we were given the option of doing a CVS immediately, but given the ultrasounds have been normal and the fact that I've still been given only about a 0.5% risk, the MFM did not recommend this, and instead said we should wait for the results of yesterday's bloodwork. I will also have follow-up ultrasounds at 17 and 20 weeks to make sure the baby is continuing to develop normally.

I also feel strongly about not doing any invasive testing unless absolutely necessary. At this point I'm not terribly worried, because apparently there are many reasons the bHCG/PAPP-A screen can give a "false positive." Frankly, I kind of wish we'd just skipped the screening, because I think it's only created uncertainty. Apparently it's not very accurate, and I don't fully understand why this is still done routinely when the DNA screens are more accurate.

I'm mainly worried now that we'll have some sort of ambiguous results from the maternit21 test and then have to decide whether to do an amnio or just wait it out till the birth. We will not terminate either way, so in a way I think these screens have just caused unnecessary stress.

Sounds like we were given similar advice as far as next steps. When do you expect to get your results?

Also keep in mind that 1:154 is still a very low chance - hopefully your additionally bloodwork will confirm this. And I think they should be able to monitor for the other potential placenta issues via ultrasound throughout the pregnancy.

good luck and let me know of any updates!

Renee1105 · July 2016

Just wanted to add that I'm thinking of you ladies. Sorry you're going through this and I'm hoping for the best.

scgirl6113 · July 2016

Thinking of y'all and praying everything is alright!

Kristalyn85 · July 2016

With my daughter born in 2014, we had the quad screen done. Results came back at 1 in 12 chances that she would have DS. We did further genetic testing, and everything came back fine. She is the sweetest, most loving child we could ask for. Please keep us updated with what you find out, and don't stress too much (if that is possible).

JennaLee1486 · July 2016

I haven't experienced this, but my OB advised me not to do the test with my son and told me the false positive rates are too high. I know quite a few people who have had this test come back with something "wrong" who have perfectly healthy babies. Try not to freak out yet. Thinking of you

keifekm · July 2016

Thinking of you ladies and hoping for the best...

canavara · July 2016

Kristalyn85 said:

With my daughter born in 2014, we had the quad screen done. Results came back at 1 in 12 chances that she would have DS. We did further genetic testing, and everything came back fine. She is the sweetest, most loving child we could ask for. Please keep us updated with what you find out, and don't stress too much (if that is possible).

That's so scary! I'm so glad everything turned out great. I'd been wondering how low (high?) that probability number could go--I think the lowest I had heard until now was 50, so it's crazy how all over the place they can be.

I'm currently waiting on my quad screen results (online health portal says they'll be available Sunday even though nurse said it'd be a week) and am trying to keep an open mind about how many "false positive" stories I've read, but it's really hard. I had a couple of high fevers in the middle of first trimester and am slightly worried about spina bifida risk... but my OB thinks a fever that peaked above 102 but was mostly kept under control with paracetamol isn't anything to be too worried about--but who wouldn't worry until they got good results?

Keeping everyone here who's also in a moment of uncertainty in my thoughts

ceclarlinetlo · July 2016

When I was born they actually told my mom I might have Down syndrome (something about the way my toes and my ears look e) but I don't and my toes and ears are also totally normal now. FX for you that both of your babies are perfectly healthy.

JessWeck · July 2016

For this reason specifically, my husband and I decline genetic testing. You will love your baby regardless of a chromosomal disorder, so why spend your precious months worrying? I hope I don't come across as unsympathetic, because that isn't the case, but these tests come with a high false positive/negative risk. A mother could be told she's high risk for a baby with DS and birth a baby who has no abnormalities. In the same light, a mother could be told the she's low risk for a baby with DS and birth a baby with abnormalities.

I think of it as such, I will love my baby unconditionally either way, so why spend months of anxiety and unknown. This is baby #3 for me and genetic testing has never been on our radar.

Try to take a deep breath and let God take care of it. I personally think you'll only drive yourself insane.

KRB22 · July 2016

I didn't start this thread, but really appreciate the positive stories and support from everyone.

My husband and I decided we will probably decline screening from now on, unless there is a compelling reason to suspect something is wrong and seek reassurance.

@canavara I'm sorry you're in a similar situation. I hope you get your results soon and all is well

charingrosario · July 2016

I'm sorry to hear you're going through this. After hearing these experiences, i am glad my husband and I decided to decline the tests. Like someone else said, I will love the baby no matter what, so it's not worth the stress if something came back as high risk.

LoneStar21416 · July 2016

Just popping in to say I'm sorry you're experiencing this uncertainty and stress and I hope you can find some calm and peace. I don't have any personal experience, but I do have 2 friends that both had less than conclusive results from their anatomy scans prior to delivery. They each had echogenic intracardiac focuses (bright spots on the babies' heart, which can suggest an increased risk for DS or can be a harmless, normal variation in fetal development. In one case, the quad screen also revealed an increased risk for DS as well. Needless to say, neither baby had DS. Sending you good thoughts.

ThePax89 · July 2016

Terrifying. Thinking of all of you ladies and praying for your babies.

BrennansMom2012 · July 2016

Praying for you guys and sending positive thoughts!

EISG918 · July 2016

No experience but praying for you and your LO! Keep us posted!

canavara · July 2016

We got our results this morning--OSB risk was slightly elevated from normal population risk (so 1:910 instead of 1:1000) but still very far from a positive screening. Phew. Everything else (T18, T21, T13) was also negative. So relieved.

KRB22 · July 2016

@canavara that's great news!

Mylitta · July 2016

I agree that this is why we decided to not get the screening. I decided that it wouldn't help me be prepared to have an idea now. At first it's just a baby anyway....

egilona · July 2016

I was offered the standard first trimester screening and did it - I'll take advantage of any non-invasive tests we're offered, as I'd prefer to avoid the risks of CVS or amnio unless there's reason to believe something may be wrong. My results weren't exactly what I wad hoping for (risk of DS elevated relative to age group; I'm at ~1:546 vs. expected risk of ~1:722), but they were negative, so I'm not really feeling any anxiety at this point. My thoughts are definitely with those of you whose results were positive - I can't imagine what you must be going through.

While I appreciate that some are happy to pass on screening to avoid the anxiety of potentially worrisome results, I personally am very glad to have had the screening. I don't think I could handle watching a child suffer, die shortly after birth, or face a battery of risky medical interventions that may or may not improve his or her quality of life. To face any of that completely unprepared and/or to limit my options if faced with a difficult diagnosis would be something I would really struggle to handle. I feel comfort in being informed and having the agency to make the best decisions for me and my family.

Lkatz1826 · July 2016

I completely agree...my last pregnancy my daughter had trisomy 13. We found out from the Panorama blood test, which came back high risk for it. We followed up with diagnostic testing and results came back positive. Even on the ultrasound II I could tell things looked abnormal. By doing the test we were able to prepare for what was to come, and expect. It was a very hard time but my OB, family, and friends were amazing and helped us get through it.

katiebartton · July 2016

Glad you opted for the free DNA testing - I'm a huge fan of the test.

I had a 11.5 week loss from a trisomy so being prepared has always been high priority for me.

fwiw with my DS I had 5 mom on the free beta HCG and mine was caused from a placenta issue not chromosome - I was glad I did the test because that was something that need to be monitored too

aishmc · July 2016

@KRB22 I had a vanishing twin with this pregnancy and when I opted for screening my OB made sure to emphasize that the results may be a false positive due to the empty sac. She said vanishing twins often have a chromosomal issue which causes failure to develop in the second sac. I'm surprised they didn't see yours earlier.

It was depressing seeing results for baby A after the NT and inconclusive next to baby B, but the second sac was still there at 12 weeks.

KRB22 · July 2016

@aishmc I'm sorry for the loss of your twin. I hope your baby A is healthy and thriving in there!

Did you do the cell free DNA screen /NIPT, or just the NT scan?

It's not 100% clear whether we had a vanishing twin - there was nothing flagged on my 6 and 8 week ultrasounds. Then the doctor saw it on my NT scan at 13 weeks, and the MFM didn't see anything on a detailed scan at 14 weeks. So I'm really just hoping the DNA screen comes back negative. Otherwise I fear we'll just be left with uncertainty about whether the results are related to the vanishing twin, or if they are indicative of a chromosomal abnormality with the surviving baby.

LastMango · July 2016

egilona said:

I was offered the standard first trimester screening and did it - I'll take advantage of any non-invasive tests we're offered, as I'd prefer to avoid the risks of CVS or amnio unless there's reason to believe something may be wrong. My results weren't exactly what I wad hoping for (risk of DS elevated relative to age group; I'm at ~1:546 vs. expected risk of ~1:722), but they were negative, so I'm not really feeling any anxiety at this point. My thoughts are definitely with those of you whose results were positive - I can't imagine what you must be going through.

While I appreciate that some are happy to pass on screening to avoid the anxiety of potentially worrisome results, I personally am very glad to have had the screening. I don't think I could handle watching a child suffer, die shortly after birth, or face a battery of risky medical interventions that may or may not improve his or her quality of life. To face any of that completely unprepared and/or to limit my options if faced with a difficult diagnosis would be something I would really struggle to handle. I feel comfort in being informed and having the agency to make the best decisions for me and my family.

@egilona Thank you for putting my own scrambled thoughts on testing into words so eloquently. This is precisely why genetic testing was a no brainer for us. Finding out is this baby is a boy or girl is the only surprise I want on delivery day.

serah-2 · July 2016

I went in and got blood drawn for the NIPT today - so hopefully we'll have a better idea in 10 days or so as to what our risk really is. I got the paperwork from the initial test and my numbers were:

HCG: 1.35 MoM

PAPP-A 028 MoM

AFP .48 MoM

NT 1.3 mm

Nasal Bone present

Down Syndrome Risk 1 in 154; Trisomy 18/13 risk 1 in >10,000

Can anyone who's a bit more experienced with all of this, or with a medical background or google skills help me make sense of this?

Thank you all for your responses - @renee1105 @scgirl6113 @jennalee1486 @keifekm @ceclarlinetlo @charingrosario @thepax89 @brennansmom2012 @eisg918 @egilona @eishmc @last mango - you ladies are truly kind and I thank you - its been a rough couple of days and its nice knowing there are nice people out there wishing you well.

@gigantan, @kristalyn85, @lonestar21416 - thanks for sharing your stories, they make me feel a little bit more confident and I'm so happy your families are happy and healthy.

@krb22 I hope your results come back ok!!! I'm with you - I kind of wish we never took the test. It just makes you crazy with worry!

@canavara - I'm SO HAPPY for you; I hope you have a wonderful and healthy pregnancy.

@lkats1826 - I'm so sorry for your previous diagnosis. Thank you for sharing your story.

@katiebartton - I'm so sorry for your previous loss. Thank you for sharing. I hope your current pregnancy is healthy!

KRB22 · July 2016

@serah I don't have my exact numbers, but your risk assessment is very similar to mine.

DS: 1/253
T13 & T18: 1/10,000

We also saw the nasal bone, the NT measurement was normal, and there were no other soft markers in either u/s I've had.

I can relate what I learned from the genetic counselor:

Your baseline risk is a function of age only. I am 34 and my risk of DS without any tests was around 1/375. This means that all else being equal, for every 375 34 YOs, 1 will have a baby with DS.

Because my HCG was elevated, my risk is increased. So for every 253 34 YOs with the same HCG level, NT measurements, etc, 1 will have a baby with DS. If you think of it the other way around, 252 will have babies without DS.

1/10,000 is extremely low risk, i.e., "negative" from a screening perspective. The genetic counselor told me this is the baseline risk for a 20 year old.

I I find it reassuring that my risk is low/normal for T13 & T18, but I've been struggling with a lot of anxiety while I wait for the Maternit21 results.

The worst part for me is the uncertainty; I just keep mentally running through all the what ifs. I still have another week of waiting

KRB22 · July 2016

Quick update from my end - my doctor actually called earlier with the Maternit21 results and everything is normal! She said a negative screen with this test is very reliable, so I'm definitely relieved! And ready to enjoy the rest of this pregnancy.

@serah will be thinking of you and hope you get your results soon!

serah-2 · July 2016

@KRB22 - IM SO HAPPY FOR YOU!!!!!!!!!!!!!!! That's awesome. I'm just hoping we get the same results next week. congrats and please enjoy the rest of your pregnancy. Thanks for answering also - its good to know someone out there in cyberspace is going through the same stuff.

serah-2 · July 2016

All - Thanks so much for your support!!!

We just got our results in - and we are having a HEALTHY baby girl!!! WOOHOO!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

KRB22 · July 2016

serah said:

All - Thanks so much for your support!!!
We just got our results in - and we are having a HEALTHY baby girl!!! WOOHOO!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

GREAT news!! Congrats!!!

colleenkevin · July 2016

@serah yayyyyy!!! Congratulations!

sagoon · July 2016

Hooray! I know how stressful that wait can be. Glad everything turned up negative!

aishmc · July 2016

So happy for your good news!

scgirl6113 · July 2016

So happy to hear that!

canavara · July 2016

Yay! Glad everything turned out okay!

momof2girls+? · August 2016

We just had the quad screen done last week and the nurse called me today with the results. They said I have a 1:95 for Down syndrome. So now they are going to schedule a different blood test that's more definitive. This is baby #3 for us and we have 2 healthy girls at home. This is the first time we have ever heard and done the quad screen. I really hope for a negative result on the next test. But for now I wait and pray everything turns out all right.

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