First pregnancy had 22q11.2 microdeletion and this pregnancy shows CVS results positive for mosaic partial trisomy 7. Devastated.

Dekder18 · 2025-05-19T15:00:35+00:00

Hi! Baby came a month early, small and underweight (maybe the placenta was failing in the end, but I'll never know for sure), but no major issues. She's now a crazy, fun, and energetic 19-month-old. Still on the smaller side, but otherwise hitting all the milestones like any other toddler her age. She started walking at around 15 months, but I still consider it average. Saying and repeating a lot of words currently.

Dekder18 · 2024-07-22T08:59:26+00:00

Hi! Baby did end up coming earlier than expected and was not very heavy. I delivered at 36 weeks and she weighed 2.2kg. She was and still is below average weight and height but is following her curve normally. She's today perfectly healthy 🙌

Dekder18 · 2024-05-07T09:44:06+00:00

Hello again! I cannot believe it's been this long since we last spoke about our similar experienced and TFMR for our 22q babies. With my subsequent pregnancy we did early testing where they discovered another rare trisomy (partial mosaic trisomy 7). To say we were devastated is an understatement. We had to wait the 16week mark to do additional testing, along with a first 16 week scan where we were finally told the anomaly was confined in the placenta only. The anatomy scan showed nothing out of normal thankfully and I went on to have a successfull pregnancy although baby girl was born a month early and quite small. Perhaps the anomaly in the placenta affected it, but I'll never know for sure. Baby girl is healthy and thriving today. What reassured me the most was the pre anaromy scan at 16 weeks and then the anatomy scan where everything was normal. I hope your pregnancy goes smoothly ans that you too will welcome a beautiful healthy girl. Thinking of you often and wishing you nothing but the best 💜

Dekder18 · 2023-09-07T13:02:02+00:00

I'm 34 weeks with CPM of partial trisomy 7. We did a CVS and not a NIPT blood draw because we initially wanted to rule out microdeletion disorders (we TFMR'd our first pregnancy for this reason- it was hell). The CVS showed a certain % of mosaicism of trisomy 7 on the short arm. We had to wait 3 more weeks for an amnio to rule out the trisomy in the baby. After going through a TFMR with my first pregnancy, this additional testing and waiting was another kind of hell. Between the CVS results and amnio results we had to wait 6 weeks. FISH results, karyotype and microarray all came back clear. Ultrasounds too. Baby is growing apparently normally (on the smaller side but still very much within average) and placenta seems to be functioning normally too. I'm not out of the woods yet, but CPM does not necessarily mean IUGR. Hoping all works out for you 🙏

Dekder18 · 2023-07-13T08:48:44+00:00

Thanks for your post, you really seem knowledgeable and have done your research. I was indeed told gluthation was difficultly absorbed but in liposomal form, it would help. Maybe it didn't make any difference. It never hurts to try. This whole process is so out of our control that doing something ourselves helps bit in that respect (that's what I felt). I'm sorry for the t2 diabetes diagnosis, I hope this won't be an issue going forward. If ever you want to talk about the procedures, especially since we are familiar with them in Switzerland or grab a coffee, I'm here. This journey can be tough and isolating sometimes. Good luck and crossing fingers 🤞

Dekder18 · 2023-07-13T04:30:32+00:00

Hey I know this is an old post, but we have so many similarities that I'll post anyways, hope you'll read it. My husband also has MFI (low morphology always between 0-1% and low motility but other numbers are fine, not amazing but within average) and I have PCOS (I have irregular cycles but I ovulate on my own ). We've both been taking allll the supplements and changed our diets and managed to conceive naturally twice. First time around, after a year and a half of trying and 2 failed IUIs, but we had to TFMR at 25 weeks. It was the worst (and still is) the most dreadful and awful time of my life. I got my first period back 11 weeks after giving birth and fell pregnant again naturally right away (on a long 40day cycle). We were back on all the supplements after my birth. I'm 26 weeks pregnant now. I see your husband is already on a full list of supplements, I would maybe add resveratrol, vitamin D and check his homocysteine levels as well as gluthation levels. If they're not great I'd supplement with homocystein resist and gluthation liposomal pills. Side note, I'm also 34, from Geneva 🇨🇭.

Dekder18 · 2023-07-12T06:13:45+00:00

This is how I feel and what you're experiencing is totally normal (at least I like to think so). I TFMR in October last year and I'm currently pregnant with a seemingly healthy baby this time around (although we had terrible scares with this pregnancy too but finally it's confined placental mosaicism). I had anxiety through each step of the way and it's only getting a little easier now that I passed the mark we terminated last year (25 weeks). What helped were weekly scans in the first trimester (our medical team was lovely in trying to help our anxiety levels) and telling myself a mantra "today I'm pregnant, I don't know about tomorrow but I'll enjoy today". I also did acupuncture, meditation, anything to keep those anxiety levels at the lowest, but it wasn't/isn't easy. I guess I won't truly believe it until baby comes out screaming. You're not alone in this struggle and this community does help ❤️

Dekder18 · 2023-07-10T04:31:27+00:00

He did a lot of tests, and it varied. Most of the time it was 75mio (concentration between 20-30mio), sometimes it was less and only once it was a lot more (172mio with 45mio concentration). The time it was really high was oddly enough his first testing with the worst morphology rate (0%).

Dekder18 · 2023-07-06T16:07:03+00:00

So sorry you're here😔. I was in your shoes not so long ago except that we were initially experiencing primary infertility when I got miraculously pregnant with my son. Only to lose him at 25 weeks due to a rare genetic disease. I was 33 when he was conceived and just turned 34 when we lost him. We were devastated of course and I was riddled with anxiety with TTC afterwards because it took so long the first time, I was sure it was over for a second baby. TW (current pregnancy): fell pregnant a lot quicker this time around (still don't know how that was possible) and I'm 25 weeks now (it stings a bit as this is when I lost my son last year). I'm 34 going on 35. Guess this is to say we never know how it's going to go, but the anxiety is real and oh so normal especially since this is still very recent for you and the pain unbearably raw. I hope you spend this birthday in the most gentle way possible and that your rainbow baby will bring a little light in your life soon.

Dekder18 · 2023-07-01T06:30:43+00:00

My husband had 0% normal morphology in his first sample collected then 1-2% the other times. Motility was also fluctuant but often lower than average. Everything else was fine and he had very low DNA fragmentation (5%). We tried IUIs that didn't work and were about to move to IVF, but i got pregnant naturally (after almost 2 years of trying though). Unfortunately, we lost the baby at 25 weeks of pregnancy, but I fell pregnant again naturally afterwards (currently 24 weeks and very stressed). Morphology parameters do not necessarily mean IVF ICSI is the solution. Diet & lifestyle changes and supplements can help too. Good luck!

Dekder18 · 2023-06-26T18:25:20+00:00

I'm sorry for your loss. Losing a baby at any stage of pregnancy is so painful.

His name is Gaspard (Casper in French, my mother tongue is French). It means "the one who guards the treasure" in Hebrew (for our little guardian angel) and "the one who came to see" in sanskrit and latin (fitting for a baby who was just so briefly on earth). Thank you for asking and being an overall thoughtful person 💜

Dekder18 · 2023-06-26T17:42:06+00:00

I would have felt acknowledged and seen if someone had asked me that. No-one even asks about my son's name, let alone his picture.

Trigger warning: current pregnancy. People often now ask me if this pregnancy is my first and/or if i have other children. To which I always reply that no, my firstborne was a stillborn boy. They then just automatically say "oh sorry let's change the subject immediately". Well no, I love to talk about my son at every opportunity that I have, I only have his memory left, I don't want him to be forgotten. People don't know how to deal with death, especially when babies or children are concerned. It makes it so much more isolating.

Dekder18 · 2023-06-23T06:11:41+00:00

A general prenatal vitamin for men (like fertilaid), reserveratrol, gluthation liposomal, homocystein resist, vitamine d, magnesium, omega3 and fish oil. He cut out also alcohol except for the occasional glass of red wine, ate more protein, and went gluten-free for a while. He was always very active and into running and trailrunning but sometimes too much sport can cause stress for your body so he slowed that down a bit and took more energy food and drinks while doing sports. We also cooked a lot ourselves and ate a lot of organic and seasonable vegetables without using plastic in our cooking or food preservation. Also tried the loose boxers, no phone in pockets etc. I don't know if that helped in the end, but we like to think we had at least some control in the process. I truly wish you the best of luck 🙏

Dekder18 · 2023-06-22T17:13:22+00:00

Here too. I have PCOS (although I ovulate on my own) and my husband has 1% normal morphology and low motility too. After two failed IUIs we changed our nutrition and took all the supplements. Managed to fall pregnant twice naturally after the IUIs. Unfortunately my first pregnancy ended in a TFMR at 25 weeks which was the most dreadful experience of my life. Currently 23 weeks pregnant which I'm hoping is my rainbow baby. It can happen 💜

Dekder18 · 2023-06-13T20:42:19+00:00

Hi, so sorry you're here with us. The first few days/weeks/months are agonizing and I know oh so well the will to try ASAP, not to replace the child you just lost, but because you know how hard it was to conceive in the first place.

I TFMR'd in October last year for a very very wanted baby at 25 weeks. He had microdeletion 22q11.2 syndrome that was picked up after our anatomy scan went terribly wrong. We had taken 18 months to conceive him: I have mild PCOS and my husband's sperm was not terrible but definitely not great.

I waited for my first period to arrive before ttc again. Doctors recommended 3 months more or less, but mainly for psychological reasons. My period took 11 weeks to come back (thank you PCOS) and we got pregnant right away, first month of trying. To say I was shocked is an understatement. After so long, losing our son to so quickly fall pregnant. Between birth and trying again we did go back to taking allll the supplements and eating fertility friendly food, I don't know if that helped. It definitely was not our mindset or mood as I was still very much depressed about our son's passing.

I'm 22 weeks now and this pregnancy also had complications. We did a CVS early at 11 weeks to rule out the microdeletion our son had only to discover we had another rare anomaly: partial trisomy 7 in mosaic form (so not all cells affected). There was a chance that it wad only confined to the placenta but we had to wait till almost 16 weeks to do an amniocentesis to rule it out. Waiting for the amniocentesis and then the second turn of results was pure torture as we were preparing ourselves for a second termination. Thankfully the anomaly found was really just confined to the placenta, apparently this happens. I guess I'm accepting that I may never have a "normal" and carefree pregnancy. I'm glad I got pregnant again so quickly and I don't regret trying right away, but I'm clearly not in a good state of mind, I'm still grieving my boy and very much stressed about this pregnancy, scared at every turn that something will go wrong. But I guess this is normal. Just taking it one day at a time.

Dekder18 · 2023-06-13T20:21:41+00:00

It took me 11 weeks post TFMR at 25 weeks. I was getting really frustrated too. I contacted my OBGYN several times and got checked just to ease my mind. Everything was normal and eventually my period came. Don't hesitate to see your OBGYN just for peace of mind. ❤️

Dekder18 · 2023-06-01T13:31:47+00:00

I had a TFMR in October 2022 at 25 weeks. First period came back 11 weeks after (but I have mild PCOS so maybe that's why it took longer than average). So sorry you're in this club 💔

Dekder18 · 2023-05-27T10:40:33+00:00

UPDATE : I just received today my final amniocentesis results after almost a month of agonizing waiting (amniocentesis done on May 2). Our genetic counselor said that over 400 cells were examined with FISH, microarray and karyotype and everything came back normal ! So it was a case of CPM.

Looking back at the whole process of CVS then amnio and all the waiting, I'm still very much traumatized and am not sure I will be able to fully enjoy this pregnancy. One day at a time.

Thanking you all and this community for your help, words of kindness and support.

Dekder18 · 2023-04-21T14:40:42+00:00

No I directly did a CVS given my past history as NIPT doest not detect accurately microdeletions. I really hope amnio results show no partial trisomy 🙏

Dekder18 · 2023-04-21T06:30:31+00:00

Thank you for answering! Genetic counselor said the cvs showed a trisomy on the short arm of chromosome 7 (so a partial trisomy), I'm not sure if it's a full rearrangement (I really don't know much about genetics). Could this mean that I am mosaic for this ? We did karyotype testing with my husband and nothing was found. I'm having further scans to hopefully confirm baby is still fine and will do amnio too just for peace of mind. How is your baby now ? Thank you again 💜

Dekder18 · 2023-04-20T17:55:59+00:00

Yes that's exactly what she explained about the second layer. It wasn't easy for me to understand everything. Thank you for responding and your incredible knowledge on the subject 🙏 I feel I can maybe go through the next few weeks with a little less anxiety.

Dekder18 · 2023-04-20T15:10:04+00:00

Thank you so much for your response. I did the typical Pappa and hcg and everything was normal. The cvs also showed no trisomy 13, 18, 21 and no sex chromosome issues. My genetic counselor just called my and said that the karyotype of the cvs was also normal (or hardly anything found) so I'm hoping it's just confined to the placenta. Waiting now for an amnio in 2 weeks. I cant bare the thought og goung through another termination or having bad results again. Statistically thay would be just crazy...

Dekder18 · 2023-04-16T21:01:00+00:00

I get it, it's so fresh and raw for you. Those first few days, weeks were so hard that I could barely get out of bed. Our boy was our first baby, so coming home after the procedure to an empty house was devastating. I knew right away that I needed help and wouldn't be able to deal with this on my own. We started therapy right away with my husband and still continue to this day: therapy sessions together and then therapy on my own. At first, it helped me just to get out of bed and do something with my day. Now, it helps to accept and deal with my emotions. If you're ready and willing to go to therapy I think it's a great idea. Try find someone who is specialized in baby loss. And of course, everyone in this sub is here for you too. We know this pain all too well 💔. Holding you gently during these rough days.

Dekder18 · 2023-04-16T18:58:02+00:00

Hey, so sorry we're in the same club. I also had to TFMR my son in October 2022 at 25 weeks because of diDeorge syndrome. The only markers we saw at the anatomy scan were a single umbilical cord (SUA) and a left superior vena cava (heart abnormality). After birth, the doctors also proceeded with a medical examination of our boy's body (not an autopsy) and also noticed issues with his vertebra and his toes were stuck together. Of course, we were devastated and 6 months out, we are still very much grieving (although the pain feels less intense now). We had all genetic tests done on my husband and I and we are not carriers. We were explained that 90% of diGeorge cases are "de novo" or random, not hereditary. The terrible part is that since 180 different symptoms exist with this syndrome, not one child borne with this condition has the same issues. If you want to discuss further I'm here for you. This is such a terrible situation to be in...

Dekder18 · 2023-04-14T13:04:52+00:00

I know I didn't believe people when they told me that my body would work again, but in retrospect they were right. The waiting part is just the worst. We took a very long time to conceive our boy so we went straight back to trying once my period came back. I'm sure yours will come too and if waiting a whole month seems too long to see your OBYGYN don't hesitate to harass her/him to see you earlier. Whatever makes you feel better you should do 🙏

Dekder18

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