u/UnverifiedPanda

Can I just say… You are all amazing.

I’ve been reading a lot of your posts and comments, and I’m genuinely so touched by how supportive this community is. The level of empathy, kindness, compassion and respect people show each other here is incredible.

I feel like so many of the comments I read are written from a place of such deep care, even when someone’s experience, circumstances, or feelings are different from their own.

I think going through TFMR has given us an understanding of pain, grief, uncertainty, and impossible choices that is hard to put into words. But somehow, I can sense it in every word I read here.

It’s so sad that we find ourselves here, but I’m incredibly grateful that a space like this exists. Thank you all for making this feel like such a safe place to be.

I’m 7 weeks out and I’ve entered this new phase of the grieving and healing process where I have this drive to ‘get myself back on track’.

After months of emotional over-eating, I’m focusing on healthy food and exercise.

I’m using my resources for mental health support.

I’m slowly getting back to work.

I’m meeting up with people and attending social events.

I’m cleaning and reorganising my house.

I’m taking care of my LC and try to be a present mom.

I’m making to-do lists and try to be productive.

I’m trying to get back into a normal and healthy routine.

But man, this is hard. I’m being thrown from feeling overly optimistic to feeling like a complete failure when I don’t manage to do all this stuff that used to be just normal day-to-day life.

I know it takes time but I guess I’m having this realisation that it will take a looooong time. I’m getting impatient. I just want to feel normal again.

Anyone who can relate? How are you managing your expectations in recovery?

EDIT: This is actually my second TFMR. I recognise this from the first time. I don’t remember any strategies or helping thoughts though. I hate to go through this phase again.

My toddler of 3,5 years old is going through another phase of intense tantrums.

She is strong-willed and has been like this from a very young age. She can completely lose control over her emotions when things are not going like she has in mind. But she is also smart enough to know how to get what she wants.

I find it extremely difficult to know when she is just sort of acting to get her way and when she is truly upset. I don’t want to say she manipulates because I know it’s not exactly like that, but… Well, I hope you know what I mean. It also often seems to start from ‘acting’ but end in true meltdown.

I’ve learned to be firm about boundaries because she will find a way to stretch them. But I’m struggling with the tantrums that can follow.

I’ll try to paint a picture of a situation that happened today:

1. We were playing outdoors, everything was fine until another kid wanted to go on the swing that she was on. So I told her that we were going to switch soon. I counted to 10 so she knew when it was going to happen (this has been helpful before). But she got upset.
2. Her tantrum began. She started crying loudly and making angry sounds and gestures.
3. When moving towards her, she backed away, screaming “NO NO NO”
4. Tried to leave her be, but at some point I felt like she wouldn’t be able to calm down by herself.
5. Tried to pick her up and sit down, no talking. Didn’t work. She continued to try to get away from me.
6. Decided to get her out of the situation so went home with her to her room.
7. In her room she continued to crawl away from me, still crying loudly and visibly upset. She even crawled under the bed to get away. Tried to give her her bunny, this sometimes helps, but she wouldn’t accept.
8. I told her I could see she was upset and that I would leave her room and go into our bedroom to give her some space.
9. She started to scream more and call “MAMA MAMA MAMA”. I could see she came from under her bed and was just ANGRY. Tried to give it some time but at some point went back into her room.
10. She crawled back under her bed. Tried to stay close but not too close. Didn’t work.
11. At some point I put on some music (Peace Like A River) that I recently found when I was in a similar situation to help calm her down. It took some time but it worked. She calmed down enough so she allowed my touch and at some point she came to be and crawled on my lap. We sat there for two more repetitions of the song and then she said she wanted to go back outside to play.

So these kind of things happen often lately and I just don’t know what to do. It’s so hard to see her going through such intense emotions. She doesn’t seem to be able to calm herself down, but is also actively avoiding my comfort or help.

I’ve seen these parenting videos on how to not talk during tantrums and either just staying close or at least in sight until they calm down but it seems like this is not enough. I can wait forever and it will just get worse.

The things we’ve tried that got her out of her tantrum:

1. Getting really angry (but obviously this is not our preferred way)
2. Leaving her until she gets REALLY upset and finally allows us to comfort her (also not our preferred way)
3. Giving her her bunny
4. Playing calming music
5. Using her bunny and other stuffed animals to mimic her behaviour
6. Calmly explaining/replaying the situation and acknowledging her feelings (us telling her why we think she is feeling upset)

But none of these are always working so I find myself desperately looking for new ways to help her.

Any tips? What should I have done in this specific situation? If you know of any helpful resources like books or videos, that would also be greatly appreciated. Thank you!!

This week, I'm taking tiny steps back to work. I joined a meeting with my team online for 10 minutes, had a phone call with my manager, and will go to the office tomorrow for lunch with some of my team members.

I also just sent out an email to a bunch of people in my office sharing my story and announcing my return. I attached a digital copy of our birth announcement card, a physical copy of which had already been sent to the office a few weeks ago.

For context: I work in an organisation that provides care for people with disabilities. Having terminated for mosaic T21, I'm struggling with internal conflicts between our mission statement and my personal beliefs (people with disabilities can live meaningful lives) on the one hand, and my decision on the other hand. It makes me feel really vulnerable.

But I have received many lovely and heartwarming messages and cards from my colleagues (only some knew the details, though) and it gave me the strength and confidence to be open about it all.

I know I'm lucky to be living in a country that's predominantly pro-choice. But I'm still so proud of myself.

This was a decision that I never wanted to take. I'm not at all at peace with it. I'm struggling with feelings of doubt and regret. But they may know. They may know that my daughter was very wanted and loved, and that she will always be part of our family and life.

I'm sorry if you feel like you will never be able to do the same in your environment. I realise this is not for everyone. But I felt like sharing this step in my healing journey.

I posted about our case before. For some background to explain why I feel like this, see below, but feel free to skip it. Basically, it’s just a very grey diagnosis. We got some final test results today (post-TFMR) that just got me spiralling again.

I cannot accept our own decision to TFMR. I honestly feel like we made the wrong one.

I know from reading stories and comments here that an important source of comfort for many people is the thought that we chose to suffer now so that our child wouldn’t have to.

But honestly, I don’t feel that. Like, at all.

It feels like my heart just cannot accept that there was even a real possibility that she would have significant issues. If I’m being honest, I believe in my heart that she would have been fine. Maybe she would have had some minor health or developmental issues, but things that could simply have been part of life — things that can happen to anyone.

I keep thinking that she was a borderline case that was only discovered because prenatal screening has become so sensitive, and that maybe she would ultimately have been a case of overdiagnosis.

I don’t feel like we saved her from suffering. I feel like we saved ourselves from uncertainty.

It makes telling our story to others incredibly difficult. How do I explain our decision when I don’t even think myself it was the right one? Even posting here feels scary. I feel so vulnerable.

Does anyone recognise this feeling? How did you learn to live with it? Were you able to truly feel the reasons why you decided to TFMR instead of just knowing them?

Background
We TFMR’ed for low-level mosaic T21. Two amnios showed 8% and 15% mosaicism on SNP array, with only the second QF-PCR also positive for T21. The first karyotype found no trisomic cells, and we couldn’t wait for the second karyotype before making our decision because we were approaching the 24-week limit. The ultrasounds looked just fine.

Today, almost a month after my TFMR, we finally got the second karyotype result. They had only been able to analyse three cells in metaphase, and all three were normal. They explained that they mainly use karyotype to determine whether a translocation was involved or not (which it wasn’t) and that three normal cells don’t change the mosaic T21 diagnosis based on the four other results (the NIPT, the second QF-PCR and two arrays).

But emotionally it still hit me hard. I was really hoping for some extra reassurance that we made the right decision. The only thing I know for sure now is that no one will ever be able to tell me.

It’s such a difficult question.

Regret is such a strong word.

Yes, I feel regret. Heartbreaking regret. I want her back. I constantly think about the life we could have had with her. I wish I hadn’t made the decision.

But I don’t want others to think, “Oh no, she regrets her decision. She chose the wrong path.”

I know why she asked. She cares and she is worried. But when regret becomes the central question for other people, it puts such an enormous weight on whether the decision was right or wrong.

At the same time, the question hits so close to home.

I don’t really know where I’m going with this. I just needed to vent about the complex emotions that such a simple question can bring up, I guess.

I’m curious what terminology you are using.

My understanding is that the term stillbirth is generally reserved for spontaneous losses. But I have also come across definitions that simply describe it as the death of a baby before or during birth, or where gestational age plays a role (after 20 or 24 weeks).

In my native language, Dutch, the equivalent term is stilgeboorte, which literally translates to “silent birth.”

That term resonates with me because it describes the experience of the deafening silence, instead of the sound of a healthy, crying baby. I have used it for both my losses (placental insufficiency/HELLP at 24w and TFMR for T21 at 22w), but I worry people find it technically wrong or inappropriate. Especially my last experience, since my daughter was actually showing signs of life (but no crying so still silent) and died shortly after birth.

I’m curious how others after TFMR feel about the term stillbirth. Do you use it, or do you prefer different terminology?

———
EDIT: Here’s some of the phrases I have used for our losses:
- “We lost our baby rather late in the pregnancy.”
- “Our daughter/son was stillborn at X weeks.”

For my second loss, this is usually directly followed by:
- “We terminated the pregnancy due to medical reasons / a genetic disorder.”

Interestingly, I never use the term termination for my first loss. While technically, it was. My health was at risk and he had no chance of survival so it felt different.

Hi all,

I posted a couple of times before about our story (here and here). But I'm still processing everything that happened and wanted to share the final outcome once more, also for people who are facing a similar situation, as I have been just desparately searching for similar stories this whole time.

So here's the summary. After our NIPT flagged T21, we had an amnio at 16 weeks. Due to maternal blood contamination, they had to do a cell culture first before we could get any results. QF-PCR and karyotype returned normal, but microarray showed 8% T21.

We really weren't sure what to make of these results. We were told they don't know which cells are affected to what degree, and therefore, the outcome could still range from mild to typical symptoms of Down. But we also read about cell culture effects and trisomy rescue, and were questioning if puncture through the anterior placenta could play a role in the case of CPM.

Therefore, we opted for a second amnio at 20 weeks. This time, they could avoid the placenta. No blood contamination so no cell culture needed. QF-PCR confirmed T21 and microarray showed 15% T21. Karyotype is still pending (it's now 4 weeks since the amnio), but we couldn't wait for those results as we were approaching the 24-week mark. We decided to TFMR. Our daughter was born on July 14th.

It has been such a rollercoaster and I have posted here happily about our 'false positive' when we received the normal QF-PCR. I'm glad we did the second amnio as it gave some confirmation. But I keep questioning the results and the outcome and I'm terrified that the karyotype will return normal. I don't know how I would respond to that and if I can ever be at peace with our decision in that case.

If anyone has any similar experiences or advice on how to accept or make peace with it all... Please let me know. I feel very alone and this sub (and the TFMR one) have been the only places where I feel truly understood.

Trigger warning: I’m describing some unpleasant aspects of my L&D experience. I don’t want to scare anyone who still has their L&D planned, but I needed to get it off my chest.

This community has been so helpful to me. It sucks to be in this club, but at the moment, this is one of the few places where I feel truly understood. Thank you so much. I wanted to share our story as it feels therapeutic to write it all down.

Our first and second loss

On Tuesday the 14th of July, my daughter was born at 22w5d after TFMR for low-grade mosaic T21. She is my second loss after my son 5 years ago at 24w2d due to FGR/HELLP caused by placental insufficiency. In between, I had a healthy daughter; she is now 3.5 years old.

The stillbirth of my son was traumatic to me in various ways. Because of HELLP syndrome, some pain meds, like an epidural, were not possible, and I think I refused the ones that would make me less present. The pain felt unbearable, and because I was so weak, it felt like I couldn’t actively do anything to work through the contractions; I could only lie there and endure them.

While preparing myself for another L&D where I'd have to welcome and say goodbye to a very wanted baby, I planned to make this one physically as painless as possible. Well, that didn’t work out as I imagined. A failed epidural made me go through the emotional and physical pain in full.

This one was also emotionally more challenging. My son didn't have a chance of survival. My daughter did. We had a grey diagnosis with uncertain outcomes. The shame, the guilt, and the what-ifs... I'm not sure if I will ever find peace with this decision.

Monday 08:00 - Arrival at the hospital and first dose of misoprostol

Driving to the hospital, registering at the desk, and being led to the labor room were emotionally SO tough. I couldn't tell the staff my name and asked my husband to do it. I just wanted to run out of there. They were so kind and understanding, but I could only cry. The only thing I could think of was that I didn't want to be there, I didn't want to be there. It was like a mantra playing in my mind. The first dose of misoprostol was given vaginally. I requested that they do it, as I didn't want to be the one to take the action that would lead to the death of my daughter. One of the nurses was so kind as to get a machine that would display images of nature on the wall and play relaxing bird sounds, allowing me to land a bit. As the cramps started quickly after the first dose, I was able to move my attention to the physical challenge and pure survival.

Monday 18:00 - Morphine shot

I had good experiences with an epidural during the birth of my living daughter, so that's what I had in mind for this one, but the medical staff seemed to want to direct me towards morphine first (as it is less invasive, I guess). I was hesitant because I wanted to be fully awake, and I postponed it for a while as the cramps were still unpleasant but manageable, but after some time I thought: f*ck it, let’s try a morphine shot. I didn’t like it, though. I still felt painful cramps while feeling a bit drowsy, and after a few hours, it just felt like being hungover, and I started vomiting. It could have been from the misoprostol or my body preparing for labor, but I think the morphine played a role too.

Tuesday 08:00 - Continuing misoprostol and one-sided epidural

In the evening, the cramps started to decline in intensity. The last dose of misoprostol was given around 00:00, and we started again the next morning around 08:00. Then, the cramps started to change into contractions. I requested an epidural. However, it wasn't working as it should. It was only working on the left, while on the right, I was still feeling significant pain. They tried to correct it by pulling back the tube, replacing it altogether, and pulling back the tube again, but no luck. On the right, I felt the full pain. On the left, my leg felt extremely heavy and numb; I couldn't move it at all. I hated the nausea as well, I vomited a lot. I felt so miserable having to endure the physical pain after all, while I thought this was the only thing that I would be somewhat in control of during this whole sucky process.

Tuesday 12:58 - Meeting my daughter

At that point, I was ready to take anything that could relieve the pain, even morphine again, but then the doctor told me I could start pushing. Soon, she was there, born at 12:58. My beautiful, beautiful daughter. She was placed on my chest. In the meantime, my husband left the room, crying. I told him it was okay, I knew beforehand he wouldn't be able to see her. She looked just perfect. My heart was full of love and regret. I was sobbing and asked the staff desperately: did I do the right thing? Of course, they couldn’t tell me and just reminded me that our decision was not taken lightly. At the same time, I was just trying to take it all in. I felt so sad but also grateful for this moment we had together. She was still alive. I was terrified of this possibility, but it was peaceful. She even made a little sound, which I didn't expect, and it broke my heart. I’m crying while thinking back about that moment.

Tuesday 13:30 - Surgical removal of placenta and blood loss

After 20-30 minutes, I started to lose blood and feel dizzy again. Medical staff started to rush in. I gave my daughter back to the nurse. I didn't want to, but I just couldn't confidently hold her. I was scared of vomiting, and I wanted her to be somewhere safe. I was moved to the OR for surgical removal of the placenta. It took 7 hours to get back to my daughter because first, an emergency patient took priority over my surgery, and I had to recover from 1.5L of blood loss after surgery.

Tuesday 20:30 - Returning to my daughter

Finally, I could hold my daughter again. Of course, she was cold by that time. I felt robbed of my time with her, and I felt so sorry for leaving her there for all those hours. I’m not sure when she died. I hope it was with me. I was going to use the water method, but somehow the nurses thought I wanted to be there while they made hand and footprints, and only after that place her in water. I wish they hadn't waited for so long to place her in the water, but I could understand their reasoning and tried to accept that not everything was in my control. They were so gentle with her, I'm forever grateful for them being so respectful.

Our goodbye

We had an amazing funeral director. She organised our goodbye for our first son, and we immediately knew we wanted her to guide us again. She came to the hospital that night, immediately placed her in water, and drove her to our hometown, to her cosy little room in the funeral home. We didn't take her home because it was too difficult for my husband, but this was honestly perfect. She was lying there in water on a bed with a canopy, soft lights, candles, and the gentle dripping sound of the aroma diffuser. I visited her there a couple of times, held her, cried while telling her I'm sorry and that I love her so, so much, and took pictures with a professional photographer. My daughter also visited her little sister. We gave her the soft bunny toy that my daughter had been taking care of for the baby in the days before. On Friday, we drove her to the crematory in this beautiful funeral basket. My daughter closed the lid.

I hope someday I can make peace with our decision. I hope she can forgive me. But she was loved. And she will always be my daughter. I have three children - two of them are little stars, alongside all the other deeply loved and forever-missed little stars in this community.

Hi all,

I have been following this community for a few weeks now and while I wish none of us had to be here, I’ve found so much comfort in your stories. I wanted to share ours.

My TFMR is scheduled for this Monday. I will be 22 weeks and 4 days by then. The part that I’m struggling with the most is that our case is one of the grey zone ones.

After my NIPT flagged T21 around 15 weeks, we have been living from one test to the next. The results of our first amnio at 16 weeks were delayed due to maternal cell contamination, after which cell culture was needed. Then, the QF-PCR returned normal, so we were temporarily (but cautiously) relieved. But the microarray showed 8% mosaic T21. Ultrasounds showed no soft markers. The hospital told us that the outcome for our baby girl is still very uncertain. They cannot say which cells are affected to what degree. She could experience mild to typical symptoms of Down.

We were really not prepared for these results (who can be). I was already struggling with the thought to TFMR for full T21 but I think I came to accept that that would be our decision. But with this low-grade mosaicism…

We didn’t really know what to do. I was leaning towards continuing the pregnancy, but my husband towards TFMR. After lots of reading and investigating, we also had some reasons to question the results of the tests on cultured cells after transplacental punction. We were also hoping for trisomy rescue. I guess I was also just desperate to disprove the diagnosis.

So we had a second amnio at 20 weeks. We felt like maybe it’s best to let our decision depend on these results, just to give an impossible decision out of hands. A lower percentage? Continue. A higher percentage? TFMR. But it also felt so arbitrary to let some number decide on the life of my daughter.

The second QF-PCR did confirm T21 and the microarray showed 15% trisomic cells. This felt like our answer. But it will never be a true answer to the question to what extent our daughter would have been affected. I tried, I really tried to gain more insights. But it just doesn’t seem to be there.

The thought of ending my daughter’s life while there is this possibility that the impact may have been limited is killing me. I keep having doubts whether we are making the right decision, even though I know we did all we could to be informed and thorough in our decision-making. I feel like I failed my daughter, let her down, didn’t protect her well enough…

It’s hard to be in this position where I feel like it’s not definitive yet and I can still change my mind, but also I can’t. I took the mifepistron last night. I’m so sad to have started ending my pregnancy and I’m so scared of the feeling of regret.

Not sure what I’m hoping to hear here, but just wanted to share…

Also a bit of background: I already lost a baby boy 5 years ago at 24 weeks due to placental insufficiency leading to severe IUGR and HELLP. So I have been through the grieving process before, but his death was unavoidable. The conscious decision of ending this pregnancy weighs really heavy on me.

Hi all, I’m 21w4d pregnant and struggling a bit to fully accept my low-mosaic T21 diagnosis. We will likely TFMR but I’m desperate to understand my results to find peace.

After my NIPT flagged T21, I had an amniocentesis at 16 weeks. It was a transplacental puncture resulting in a bloody tap. Due to maternal cell contamination, they had to do a cell culture. QF-PCR returned normal, but SNP microarray found 8% mosaic trisomy 21.

We requested a second amnio at 20 weeks. Today, we got back the results with SNP microarray showing 15%.

What bothers me is that we also got back the results of the karyotype of the first amnio. No trisomy cells found. They will do another karyotype on the second amnio, but this will take another 4-8 weeks. We can’t wait for that for our decision on TFMR.

The lab in our hospital only uses karyotype to determine if it’s Robertsonian translocation. They look at 5 cells for this. My understanding is that they scan for trisomy cells and then analyse those.

We’ll further discuss the results with our geneticist tomorrow but looking for additional insights here.

Any specialists here that can tell me how they would interpret these results?

I’m currently awaiting the results of a second amnio after being diagnosed with low-grade mosaicism T21. I’m 21 weeks pregnant now. We’re not sure what we’ll do if these confirm the previous results.

I feel it’s getting harder and harder to deal with people. Just anyone. I don’t feel like talking to my closest friends, while simultaneously I’m disappointed when they don’t reach out or respond in a way that feels right. Whenever I do meet or talk with them, I just feel exhausted afterwards.

I struggle to determine what to tell people who are not in my direct inner circle. I don’t like hiding my pregnancy but obviously I don’t feel happy about it at the moment. If someone happily asks about my pregnant belly, I tend to respond in a “yes thanks but…” manner but the levels of details I give are different. Sometimes I say there’s complications. Sometimes I say there’s a genetic abnormality without specifying what. Sometimes I say it’s Down, leaving out the mosaic part. And sometimes I just try to explain, but the situation is so complex that it’s hard.

Obviously, the responses vary from being empathetic and understanding to mentioning how cute and fun children with Down are. It never got directly judgmental for me (yet) but it makes me miserable either way.

I notice I’m avoiding people more and more. It feels more comfortable in my own bubble, but I also feel very alone. It’s very unlike me to close myself off.

How are you dealing with people around you? How much do you tell them? Any tips?

Hi all,

I’m trying to understand the differences between the following prenatal tests:

- FISH
- QF-PCR
- karyotype
- aCGH array (CMA)
- SNP array (CMA)

After a high risk NIPT for T21, they ordered a combination of QF-PCR, SNP array and karyotype for me. Culture cell due to maternal cell contamination. QF-PCR came back normal, SNP returned 8% mosaicism.

Is there a specialist here who can explain to me the differences between the tests above in terms of (1) method/classification, (2) number of cells, (3) effect of cell culture, (4) detection thresholds and sensitivity/specificity, (5) fit for low-grade mosaicism?

I feel I have some basic knowledge by now but I seem to be reading some conflicting information, especially about the impact of cell culture and low-grade mosaicism.

Any insights would be greatly appreciated!

Hi all,

I posted before about our case: https://www.reddit.com/r/NIPT/comments/1u3qr8m/nipt_positive_t21_no_soft_markers_waiting_for/

The summary is that we received NIPT results indicating high risk for T21, but then the QF-PCR test came back normal. They were still doing an array test to check for low grade mosaicism, and while we were told that those chances are very low, I just got a call that the array test showed 8% mosaicism.

Our doctor told us that, basically, very little is known about the impact on the baby. We will get a consult with a genetics specialist, but I don't know how much they will be able to tell us. We're devastated by this uncertainty.

At this moment, we're just desparate for more information. I'm almost 20 weeks now and I just don't know what to do.

Does anyone have experience? Of know about research on low grade mosaicism for T21?

----------------------------------------
EDIT: Here's a translation of my lab report.

Due to the blood-contaminated appearance of the amniotic fluid, no result could be obtained from DNA extracted from the uncultured amniotic fluid sample. Therefore, a QF-PCR test and additional SNP array analysis were performed on DNA obtained from cultured amniotic fluid cells.

In addition to the previously performed QF-PCR test, SNP array analysis was carried out on DNA obtained from the cultured amniotic fluid cells. This analysis revealed an average increased probe dosage of approximately 8% for chromosome 21. This finding is consistent with low-level mosaic trisomy 21 (Down syndrome). The fetus is female.

The indication of trisomy 21 detected by the NIPT screening is therefore also identified in mosaic form in the amniotic fluid. The mosaicism of approximately 8% proved too low to be detected by the QF-PCR test and is therefore not reflected in the earlier QF-PCR result.

It should be noted that, due to the blood-contaminated nature of the amniotic fluid sample, the diagnostic testing was performed on cultured cells. Consequently, a potential culture effect cannot be excluded. This means that the estimated 8% mosaicism is based on cultured amniotic cells, and the percentage may differ somewhat in DNA obtained from uncultured cells.

The clinical implications of mosaic trisomy 21 are uncertain, because the proportion of abnormal cells can vary substantially between different tissues and organs. As a result, the phenotype may range from relatively mild features to the typical features associated with Down syndrome.

Genetic counseling is indicated to further discuss and explain this finding.

Additional karyotyping will be performed on the cultured amniotic fluid cells to investigate whether the mosaic trisomy 21 may be caused by an unbalanced Robertsonian translocation involving chromosome 21.

Disclaimer: Special attention was paid to chromosome 21. The remainder of the genome was assessed at a practical resolution of 0.5 Mb.

Hi everyone, I’m 35 years old and I’m from The Netherlands. I’m currently 18w1d pregnant. At 14w5d the NIPT came back positive for T21 and I’m currently in limbo waiting for the results of the amniocentesis taken 2 weeks ago. This is my third pregnancy. 

My first pregnancy ended in stillbirth. The 20-week ultrasound showed a severe growth restriction due to placental insufficiency, and after a few weeks of hoping the baby would reach a certain gestational age and birth weight, I developed the HELLP syndrome. Our son was stillborn at 24w2d. I was devastated by our loss and the birth was a traumatic experience. I was seriously ill and could not use pain medication due to my condition, so the contractions felt unbearable. I had to recover in the hospital for weeks, where I held our baby and cried a lot. I was depressed for months, but time healed wounds and I was able to enjoy life again.

For my second pregnancy, I was monitored more extensively and put on preventive blood thinners due to increased risk of recurrence. We were nervous for the entire pregnancy but as the baby was growing steadily and my blood pressure remained stable, we slowly gained more trust. We initially tried to induce labour by balloon catheter around 39 weeks, as advised by our doctor as a preventive measure, but this failed two times and I hated it. After the second attempt, we decided my body and the baby were simply not ready yet and that we would wait for the birth to start naturally. Our daughter was born healthy 9 days later at 40w6d, after a wonderful and relaxed time. To choose trust over fear was such a healing experience - I can still cry from gratitude for making that decision. Our daughter is now 3 years old.

My third pregnancy started a bit insecure again. But as I was longing for that feeling of faith and trust in this pregnancy again, I decided I did not want to go to the academic hospital anymore, not until there would be worrying signals, and continued the regular checks at the local ultrasound center. Of course, I was taking preventive medicines again and after 20 weeks I would get extra ultrasounds to monitor the growth at the local hospital. Somehow, this felt similar to our decision to stop the labour induction process during the previous pregnancy. But then we received the NIPT results: T21. My world crashed. Out of all scenarios I mentally prepared for, this was not one of them.

In The Netherlands, the NIPT is now a standard and free procedure. This is great, but I think we get less information about the results than I see mentioned in other posts. I don’t know the fetal fraction or the positive predictive value (PPV). I was just told that for T21 the chances are 90-95% that the NIPT is correct, which seems right, but I do wonder about these other numbers and if they could tell me anything more. The ultrasound did not show any soft markers. This leaves a bit more hope for a false positive, but I know it does not have to mean anything.

We did an amniocentesis. We expected results in 3-5 work days from the QF-CPR but due to maternal cell contamination, this test was indecisive. So now we are waiting for the karyotype results. We don’t know how long this will take. The phone can ring at any time, but we might also have to wait another week (or even more?). This limbo phase is really difficult. I don’t know what to feel or think.

We tried to stay away from thinking about the decision until we have a definite diagnosis, and I think we’re scared to say it out loud. But I think we would TFMR if T21 is confirmed. After losing our son, I never thought I would have to make a decision like that with a baby that does have a chance of living a good life. I feel guilty even thinking about it while we are not even certain yet. We're getting close to the date our son was stillborn (22nd of June) exactly 5 years ago, which seems like a cruel joke. We know it’s a little girl. I want to give her my love, independent of the outcome, but I feel scared to attach too much. It’s all just so confusing.

All I can do is hope for the results to come in soon, so that we can at least move forward.