Advice please: has anyone here who ha... - Fertility Network UK

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Advice please: has anyone here who has implanted a euploid embryo after PGS got a positive combined screening test for Down Syndrome?

Bettyjoy
Bettyjoy

Hi all,

Looking for similar experiences here,

hope you ladies don’t mind. So our little euploid embryo (our last one!), which we had PGS tested last year, is now unbelievably 14 weeks! I need to pinch myself everyday - it has been an emotional roller coaster every week! Last week when we had our dating scan we did also the combined screening test, a test which measures the risks of the foetus to have Down Syndrome, Edwards and Patau syndrome. The test uses an algorythm and brings together age (in my case 44), the nuchal measurement of the foetus (which was normal) and the values of PAPP-A and Beta HCG from a blood test. My result came with a high risk, 1 in 11 chances of the baby having Down Syndrome. It is not a diagnosis, it is a rough measurement of risk, which could be high because of my age anyway or possibly also because I have been taking heparin, steroids, progesterone and oestrogen until a few

days before the test. We did the PGS on the embryo and it was confirmed that it was a euploid, so I am a bit shaken by this result. I am now presented with the choice of doing another test that can be more accurate in meausuring the risk, called PNTI (which is a simple blood test) and/or a diagnostic test, an amniocentesis, which is the only one which could really confirm a

diagnosis of DS or not. However the risk of miscarriage for an amniocentesis is 1 in 200 for IVF pregnancies.

Is anyone here facing similar circumstances? Has anyone done PGS on their embryo and then had a false positive for the combined screening? If so, how are you dealing with it all? I would be grateful for anyone sharing their experiences. I am trying to stay calm and it is not easy. And i don’t want the baba to feel in any way unwanted, if you know what I mean.

Thank you for anyone out there willing to share.

44 Replies

Hi Bettyjoy, Firstly congratulations on your pregnancy.

I’m so sorry I can’t offer you any advice, but I didn’t want to read and run.

I know it’s difficult and easier said than done but please keep positive.

I know it’s so hard that No sooner you get over one hurdle there’s another staring right at you.

As you said it could be high for a number of reasons.

Are the midwifes/ doctor able to advise you? I know it would be your decision ultimately hopefully they could guide you?

I’m the same age as you, just waiting to try again xx

Bettyjoy
Bettyjoy in reply to Miracle43

Hi Miracle43 thank you! So far doctors have not been particularly reassuring, I am hoping to speak to the lab that has done the PGS on the embryo to have some data on how many cells they tested etc. to understand how accurate the PGS is...

Miracle43
Miracle43 in reply to Bettyjoy

I think speaking to the clinic embryologist is a good idea. I hope they can give you some guidance. Maybe the blood test an it’s non invasive is a start?

Bettyjoy
Bettyjoy in reply to Miracle43

yep looks like the natural next step...although some people are recommending to do the amniocentesis which is more accurate. But i’d rather not take the chance of having a miscarriage if i could avoid it.

Tryin4evr
Tryin4evr in reply to Bettyjoy

Honestly if you have an experienced physicician do the amniocentesis the risk is very, very low for any problems at all. I had it done in both my pregnancies with absolutely no problems for me or the babies. Just take it easy the day of the amnio so the tiny bit of fluid they take out can be refilled and to aid in recovery. You will be done and it’s the only way to really her the answers you need. And getting the answers doesn’t have to mean not wanting the baby, it can be just preparing best in advance for the baby if there are any problems. Hang in there and do whatever is best for you. You will make the right decision and you will be fine. Lots of love and prayers to you and your little one.......❤️🙏🏻

Bettyjoy
Bettyjoy in reply to Tryin4evr

Thank you so so much Tryin4evr- really appreciate you sharing your experience and your advice. Love and prayers are well received and much needed, thank you!

I don’t have any first hand experience but I would say your age is what is driving the high risk result? What did the NT measure at the scan and were there any other “markers” visible?

Hi Ivfgotadream- the nuchal measurement was 2.3 which is normal, the PAPP-A was 2.03 (should be closer to 1) and the Beta HCG was 0.47 (should be 1). Together with my age the markers are what have elevated the risk. So far doctors have not been able to tell me if the medication I am on could have affected the two blood markers.

Hi

congratulations.

I only did the harmony test to confirm the PGS status. Sorry I don’t know about the other measures.

Wishing you all the best.

Bettyjoy
Bettyjoy in reply to Wehavethis

Hi Wehavethis- thank you! What is the harmony test?

Jumpppy
Jumpppy in reply to Bettyjoy

Just realized how far along you are, I think you have to get the Harmony test no later than 13wk (most do it 10-12wks) for it to be accurate? You are definitely too far along for CVS. Also think they won't do amnios before 15 or16 wks. Just something to keep in mind...as options may be reduced.

Does anyone else know?

Bettyjoy
Bettyjoy in reply to Jumpppy

I did ask and apparently I am still on time for the Harmony test- or so the doc says here...

Sorry - non invasive pre natal screening from a blood test. You should see if your clinic does this x

Oh my what a stressful situation-so sorry you're going through this :(

My friend had an euploid embryo end up with a major chromosome issue (41yrs) - they saw a potential issue during 12wk scan not sure if Harmony checked for her issue (I think not?). CVS confirmed an issue. I had aneuploid that were confirmed normal via amnio. Although as I understand it it is far more rare to have a pgs tested euploid be abnormal than than the other way (like 2%-3% chance?).

Harmony is a screening test just to help you decide the benefit of amnio/CVS. Where I am they strongly recommend for all women over 40 or people with partners over 50 (unless donor eggs/donor sperm) no matter which path to pregnancy. Even if termination isn't an option there are benefits to knowing ahead of time and having a plan in place... Surprises are VERY stressful. So likely a typical next step anyhow?

Don't worry about the amnio - just use a really experienced dr who does them a lot (e.g. perinatologist). If there are actually no chromosome issues, my Dr said rate of miscarriage from amnio with an experience Dr is like 1:1800 (most of those are thought to be a result of other issues - remembering most amnios are on older women). My Dr said it has happened 2 twice with him and he's completed over 15k. Apparently the 1:400 stat includes drs who do only a handful a year and miscarriage of abnormal karyotype fetuses.

Good luck! Xxx

Thank you so much for this, so much good information here, thank you! Where did you find the stat about the post PGS euploid being abnormal? It is a really interesting one. I have asked my IVf consultant and he wasn’t sure.

Jumpppy
Jumpppy in reply to Bettyjoy

The informed consent process from the lab (Cooper?) my clinic makes you watch a video with the stats about false negatives. They didn't report on false positives specifically said that they have limited data and discussed "self-correction," mosaics, etc.

As I understand it, issue is they take 5-10 cells of say 100 from what becomes the placenta (excludes fetal cells). A euploid finding means <20% abnormal cells. In theory 5-10 cells is a sufficient sampling, but it could happen that they just happen to get the few normal cells. Statistically this should be rare. But it can happen - and that's why one only has say 50-60% odds of live birth with a tested euploid embryo as opposed to say 90%.

All that said - If I were you I would take comfort in the fact that your scans are looking good. I would push to get a perinatologist rather than just some ultrasound tech. I'm told by my perinatologist that they can tell a ton from frequent scans. From my appointments it has been a totally different experience from experience with 1st (which had a surprise issue that should have been caught). The amnio will give you a lot of comfort that things are OK (and tests for a lot more stuff like neurological issues, autism, ther micro issues).

Best of luck - more likely than not it is all good :) DM me if you want to gripe or need support. XOXO

Bettyjoy
Bettyjoy in reply to Jumpppy

Thank you Jumpppy! really helpful info- I am going to speak to the lab about our report - I may get in touch with you in the next couple of days if you don’t mind. 🙏

This must be very stressful. I also did pgs and when I researched the accuracy I was surprised to learn that because a very small part of the embryo is tested, not every cells can be teste and some chromosome anomalies can be missedIf I were you i would do the blood test which screens the chromosomes. It's not 100pc accurate. My friend who is 40 paid £500.

Best of luck!x

Thank you 🙏 yep, I am looking into it as we speak. It is stressful, it is opening a scenario that i was hoping to have dodged somehow with all the other testing...

Hidden
Hidden in reply to Bettyjoy

Hi Bettyjoy.

I had a high risk of DS with my first baby at the age of 37 . When I was 40 I had another baby and the same test was negative .

I would recommend a harmoniy test just to give you a piece of mind .

Hi Katrina16, thank you for this and for sharing your experience, and you are right, it looks like the Harmony test is the next obvious step... Keeping fingers crossed xxxx

not much ideas, but its my first PGS and quality 5AA, i am at 2ww and result will come on tuesday, hopefully positive. keep in touch if you did PGT a

Keeping my fingers crossed for you ❤️!

Hi congrats on your pregnancy, I have been in similar situation. We were so worried as you can imagine... we done two things: we booked at scan privately to make sure the baby is doing good and the then we also done Harmony test, the result as accurate and really reassuring. If you like message me. Good luck xx

Thank you! I may well message you!That is really reassuring ❤️

I don’t have a specific experience but I work with adults with Down’s Syndrome and they are all living fulfilled and happy lives. There are always challenges along the way but I wouldn’t be frightened by drs attitudes towards learning disabilities. Edwards and Pataus is different because the babies don’t survive but if the risk is specifically for Downs Syndrome, I’d do some research and then balance how worried you are vs the risks of amniocentesis.

Thank you Olive12345- I am doing the Harmony test next week and then I will consider an amniocentesis if necessary cxxx

I would think that figure is your age and statistics. I wouldn't worry when the pgs screening was good, I think that holds more weight. Try and enjoy your pregnancy, I'm sure your baby is growing perfectly 🥰🥰🥰

I had a similar experience, I had transferred a PGS tested normal embryo and then at my 12 week scan was told that based on my stats (age, ethnicity etc) I had a 1 in 13 chance that my baby had downs. I was quite shocked as I thought the PGS would likely rule out the chance of that happening. I followed up with a blood test and once I informed the doctors that I had PGS testing they said that I didn’t need the blood test after all and the PGS result would have been more accurate anyway over ridding that algorithm. Gosh it was a stressful time and lots of sleepless nights. However I have a wonderful 5 month old girl. Good luck

KiboXX
KiboXX in reply to Charliebenj

I thought of you when I saw this post! Hope you and little one are doing well xx

Charliebenj
Charliebenj in reply to KiboXX

We are both really well. Hope you are enjoying motherhood too? X

KiboXX
KiboXX in reply to Charliebenj

Very very much 🥰

Thank you for this CharlieBenj! I am trying to speak to the geneticists that did my PGS and understand whether the PGS is more reliable than the Harmany blood test algorythm- onlyone of the doctors I have spoken to will take a position saying that PGS is more reliable - everyone else is saying that there is always a chance...and it doesn’t help me.

Harmony or NIPT would be more accurate than PGS. PGS only tests around 5 cells from a possible 100 or more from the outer layer of the blastocyst which will eventually become the placenta. It doesn’t test “baby” cells. The harmony test looks at the baby DNA cells which whilst is mostly placental is in higher concentrations than the 5 cells from PGS and would also contain some baby cells

Good morning. First congrats 🤗. I didn’t do testing on my embryos, which is probably the reason for my two failed cycles. I am pregnant and did the blood test. It has a high accuracy and left me comfortable with the results. Are u able to do the blood screening ?

I am in a very similar situation. I am currently 19 weeks pregnant with a PGS tested embryo. My first trimester screen came back with a greater than 1 in 3 chance of Down Syndrome. I'm 38 and had an elevated hCG and very low PAPP-A (0.24). The NT was normal. I did the Quest NIPT test which came back negative for everything. The specialist told me that with the discordant results the risk is more like 1:50. She also said it may signal a rarer genetic issue that is not being tested for, which really put me at unease. I moved right after getting these test results and my new specialist told me he feels the NIPT plus the use of a PGS tested embryo equates to low risk and disagreed with the other doctor. My anatomy US was normal (although they couldn't see everything they wanted to) and I was told that most other genetic/chromosomal conditions will have some sort of abnormality on the US. Down Syndrome is unique in that there can be no abnormalities seen on US and the condition still be present.

The PGS test as well as the NIPT only look at placental DNA so there is always a chance that there is a mosaic condition that is being missed. Genetic problems can also arise after implantation during cell division. In all honesty, I still feel just as worried about the chance of a problem as I did initially, but when it came down to it I couldn't bring myself to do an amnio due to the risk, no matter how small. I lost my only other pregnancy at 21 weeks, I am now 38, and I have used all the good quality embryos I had on storage. I would continue with the pregnancy even if Down Syndrome is present but I do worry daily about all the what ifs. This is a hard situation to be in and it is difficult when you receive different opinions about how to interpret the risk. I hope you get some good advice from your providers. Let me know if it differs from what I have been told!

We had a 12 week indepth scan with a professor at the miscarriage clinic we go to... He looked at everything- all the organs, blood flow, placenta... The professor told us you can tell at 12 weeks if the baby has downs. The face is flatter and there's the neck measurement they do too. He said straightaway our baby's face looked normal. I would have thought if any of the features looked unusual they'd have mentioned it... Or not. Ours did x

Bettyjoy
Bettyjoy in reply to Zebedee1971

Hi Zebedee1971- could you please tell me what kind of special scan your professor did?

Zebedee1971
Zebedee1971 in reply to Bettyjoy

It's basically like the 20 week one you get with NHS, but really indepth. Looked at blood flow to all the organs etc. If you Google downs syndrome scans, you can see large foreheads etc. Does your scan photo look 'normal'??

Hi Trying1982- thank you so much for sharing your experience in such detail. I am so sorry to hear about your loss at 21 weeks, that must have been horrible for you- and then this scary screening result, as if you were already walking on eggshells anyway. You should be confident about the PGS and the result of the NIPT- I have been told that the NIPT negative result is over 99% accurate and that very few false negatives occur. And yet, I completely understand when you say tht you worry about the what ifs. I am trying to do everything I can to avoid the amnio. This is the one and only euploid embryo we had after 3 rounds of IVF and it is the first time I get to 14 weeks pregnant after 2 missed miscarriages (from natural pregnancies), 3 IVF fresh transfers and 2 FET (all unsuccessful) in seven years. Time is not on our side- I am 45 at the end of next week- and by then I should have the NIPT scan result. At the moment i don’t think i would be able to terminate this pregnancy. I have already been for a second opinion (about anothet issue) and this consultant told me with great certainty that, given I had done PGS, I had nothing to worry about and suggested even not to go for the screenings, as they are algorythms measuring risks, and not diagnostic tools. I was also told by a senior midwife that the progesterone injections which I had up to 72 hours before the combined screening, and the steroids I am still taking, could have definitely affected the Beta HCG results. It is frustrating how opinions and interpretations of data can differ so much in this- or in IVF too for the matter. Ultimately, I need to resign myself to the fact that i don’t have any control over all of this, and I need to be able to accept what comes;

the fact the stakes are so high doesn’t make acceptance an easy option...

Thank you so much for being so open about your situation- I hope to be in a similar position to yours by the end of next week, with a negative NIPT result.

Hugs to you -and keep in touch l!

Sorry to hear and I hope ends well!

I agree with many of the comments.

I’d like to add that the NIPT check fragments of DNA on the mother’s blood. So yes it’s not 100% as the PGS. However both test will have been of different testes and methods so even if their margin of error is on the similar rate. That does not mean they would make the same error, in fact if you repeat PGS or NIPT they may not be mistaken twice. That’s just the nature of test + random sample you are getting.

So I think the NIPT is helpful and it can be done anytime after 9 weeks, it only gets more sensitive and specific with time. It’s not too late to do it.

The amnio is more accurate because it uses cells from the baby fluid directly. It does carry the complications though. As mentioned by others the complications rate vary by institution and doctor. So I would find the best place, with good volume and reputation to do it. Even if that means you need to travel and pay more. Good luck 🌈

Bettyjoy
Bettyjoy in reply to BBHH1

Thank you BBHH1 - keeping fingers crossed here. Reading a lot of the stories and the comments has really helped calm me down. Just waiting to do the NIPT now 🤞

Hi. As much as you get told that age isn’t a big factor in screening it is! We got a 1:49 chance of our baby having DS from the screening despite all my markers normal, except my age! We did a harmony test straight after and our risk came back as 1:10,000!

We met another couple while we were waiting for the clinic to take my bloods and their screening came back as 1:7 chance of DS but their harmony came back normal!

We decided early on if we were advised on an amniocentesis there was no way we would have it, the MC risks were just to high for us.

Good luck with ur harmony test. X

Thank you so so much Ketkoot- doing the harmony test this week and keeping my fingers crossed- luck wishes much appreciated and very welcome! 🙏

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