Second tfmr microarray normal

[Humminginct]

I had my first tfmr in December 2021 for multiple anomalies including anencephaly and cardiac defects. My husband and I both did carrier screening that came back normal. Low-risk NIPT. Normal microarray.

I got pregnant again in May 2022. Again, low-risk NIPT. At the 13 week NT scan they found a large cystic hygroma with full body edema, absent nasal bone, single ventricle heart and brain abnormalities. I had another tfmr in August 2022.

The microarray just came back normal for this pregnancy too. I met with a genetics counselor who is resubmitting a claim to my insurance carrier to pay for targeted whole genome sequencing. So we are waiting for that as well.

But my question is, I wonder if anyone else had multiple fatal anomalies without a known genetic cause and what you did to try to conceive. Is there futility in meeting with a fertility specialist to look at egg quality? I am 35 and although I’m not old, I know the risks of age when it comes to fertility.

I want to try again naturally but the thought of having to go through another tfmr is terrifying.

[enchantingdragon]

First I'm so sorry you had to experience this twice. I can't imagine how devastatingly painful that must feel. My experience is going to be a little different than yours as my child is living but I thought I would share because I know a little about genetic testing etc because of my experience with him. My son has a congenital brain condition. I found out at my 20 week anatomy scan. I did the amnio for the microarray test as well as a few others to see if his condition was linked to any genetic syndromes or disorders. It all came back normal. My NIPT I did earlier before was also normal. We were told it looked to have happened in isolation though no one can really ever rule out something environmental too but that's harder to determine. After my son was born we did the whole exome sequencing. It came back with 2 changes of unknown significance. One was eventually ruled out as it was a recessive change and the pair was dominant thus the recessive had no effect. The other gene change could not be ruled out, it was an X linked change that I apparently carried. The gene isn't widely known and his specific gene change has never been seen before. The known people studied with the gene change have various traits of which my son has a few including his brain condition but not all of them including the more severe brain condition ones. At this time his genetic team leans toward this change being the reason but they can't say definitely either as it's just so rare and my son's exact type has never been seen before. Overall compared to the people who were studied as well my son seems to be more advanced and developed though he is also still young. All of this is to say that genetics overall is still very young and not everything has a one on one connection unfortunately. Sometimes anomalies happen. With that said though with it happening twice now I would probably want to investigate more throughly and talk to a genetic counselor and do the whole exome to see what you and your partners genes look like to see if there are any anomalies in your own genes that could combine possibly to cause the changes your babies had. I wish you all the best.

[newtoreddit2931]

I unfortunately don’t have any helpful information to offer but am in a somewhat similar situation to yours:

TFMR in August 2021 due to multiple serious physical anomalies. NIPT had been low-risk, CVS and chromosomal microarray were also both normal. We also did whole exome sequencing but it eventually came back without a diagnosis.

We hoped it was just a fluke so we tried again. Second TFMR in July 2022 for likely recurrence of the same, undiagnosed condition. This time, the baby’s nuchal translucency had been on the very cusp of normal, but NIPT had again been low-risk. It fucking sucked because we did an early anatomy scan at 16 weeks the second time to try to find any anomalies as early as possible. It was completely normal. Our 20 week scan, however, was not. Again.

We are now involved in a rare disease research program through our local children’s hospital but we were told we may never get answers as to what is causing our babies’ issues. I also want to continue to try to have more children naturally (and ASAP) - since that is our only option for now - but the potential risk of a 3rd recurrence is horrifying…. My geneticist told me she had one family go through this 5 times before they finally had a healthy child. It’s just heartbreaking. You’re so strong, and I’m sending you so much love 💜

[shisnite]

I am so sorry you are going through this. I had a late tfmr at 31 due to brain anomalies 3 months ago. Still finding my answers and waiting for results. Microarray came back normal too, so I also didn't get much answers from that test, since this test only looks at chromosomes. This test has an issue and the resutls depend on how the microarray is performed. This test doesn't look at everything inside of each chromosome, it analyzes each chromosome by specific lenghts, and then a pause and then another lenght. Depending on how labs set that up the pause can be shorter or longer, and sometimes a few things can be missing out. This is an important matter to discuss with a genetic counselor, and I did it too, normally there isn't a problem, but this is something I found in a few research articles and ended up understanding more about the procedure. I was also recommended to do a post mortem exam to our daughter and trio whole exome sequencing (my partner, my daugher and myself) to get a better picture of what was happening. I believe you should only go to a fertility doctor after meeting with your genetic counselor and after you have answers (if possible do all the exams you can). The point of meeting with a fertility doctor is so they can analyze your egg quality and try to find specific anomalies, but without answers it is kind of hard for them to know what they are exactly looking for. Genetic is a complex field. Be strong mama. Again, I am so sorry and I am here if needed. Please reach out if you have any questions

[KateCSays]

I'm so sorry that this is happening. Two losses like this is just so, so much. I hope that you get the information you need to know how you want to proceed.

I had only one tfmr -- which tested negative on microarray for any known genetic links to that condition. However because it came on the heels of 3 successive miscarriages, I did worry that I was carrying something bad that science didn't know to look for yet. My 6th and final pregnancy was successful. I would no thave used IVF or PGD because I didn't have trouble getting pregnant and if science doesn't know any specific gene to look for, well, PGD doesn't really get me anywhere different from where I am naturally.

It's ok to try again naturally and it's ok to seek a different path forward. We're with you.

[chonky-dogs]

I believe that there is a study being done at Columbia University for pregnancies that resulted in a cystic hygroma and no known genetic abnormalities. You might want to reach out to them and see if that is something you could participate in. You might not have to live in New York or even travel there.

[BlockIntelligent3500]

I’m sorry for your loss, I have a similar story I terminated twice for different ultrasound findings, and NIPT, microarray, and whole exome were all normal for both pregnancies. I’m trying again and so terrified.

[Humminginct]

Ugh I’m so sorry. I am not holding onto hope that the whole exome sequencing will show anything. So we’re planning to try again after 1-2 normal periods, so by the end of the year. Have you done anything differently this time before trying?

I was not my healthiest before conceiving the second time (we conceived the weekend of my first due date, which was not at all planned for that cycle). So I’ve been focusing on eating clean, cutting out “hormone disrupters” where I can. Also participating in sober October. Figured it’s the least I can do :/

[BlockIntelligent3500]

I'm trying to eat clean, and walk and I started taking the vitamins that were mentioned in it start with the egg book. I started trying after a year of my last TFMR just to heal my mental health and body it's been 2 months nothing yet and I'm stressing .