Two terminations of pregnancy after positive diagnosis of Trisomy 21.

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Claire's testimonial

"I'm 39 in 2 weeks, mother of 4 children, 2 little angels and 2 little scoundrels.

Olivia is 7 and a half years old. I got pregnant with her when I had been trying for over a year with her dad and had been treated with clomid because I wasn't ovulating. I became pregnant with her when I learned that he had cheated on me 18 months earlier. Complicated pregnancy, bedroom apart and finally the joy of becoming parents. We split up when our daughter was 18 months old, for the same reason.

I met my current husband a few months later. We've known each other since we were 10-12 years old. He had just separated too, but had no children of his own. I soon became pregnant (10 months after our reunion), but at the 1st ultrasound, our baby was not doing well. He has generalized edema and his brain hasn't divided. We scheduled an amniocentesis two days later and a medical termination a week later. Our baby, a little girl we'll call Jade, was a carrier of a deletion of a piece of chromosome 13.

Despite all the pain, I go back to work and we want to start a baby again. I soon became pregnant with our little boy, Marius. He is now just over 3 years old. The pregnancy went very well, even though I was very stressed and anxious that there might be something wrong, that we'd miss an anomaly or that he wouldn't be all right, but everything's fine. He was born on 02/02/2020 (a palindrome).

We're delighted to have this baby, except that my husband's job takes him to the other side of the world. He's in the army and chose to leave for the countryside a week before becoming Marius' father. I didn't realize until very recently that he hadn't experienced things the way I had with Jade. His mind blocked out a lot of things, he didn't feel like a father to her, and for good reason: the abortion (medical termination of pregnancy without time restriction, for a medical reason) took place at 14sa, and even though he saw her in the delivery room because I wanted him to, nothing was really concrete.

Anyway, he left for Tahiti for 2 years. I couldn't go with him because Olivia's dad didn't want me to go with him and it was unthinkable to go without her. So we went back and forth. I went a total of 6 times in 2 years. We had some wonderful times, but also some very difficult ones. The 2nd year of her campaign, I had a total burn-out, both at work and at home. I had to stop working for 6 months and take anti-depressants. It was too much for me and complicated at work.

The desire for a 3rd (4th) baby came to me quickly after Marius because he slept well and was adorable. I think that if my husband had been there, we would have quickly attempted this pregnancy, but he wasn't there, I was arrested for burn out, so reason made us wait.

In May 2022, we started the trials, knowing that we wouldn't see much of each other until August. Indeed, my fertile periods didn't correspond to the times we were together. I told myself that we'd give ourselves maybe 18 months to try for this baby, but that after that, we'd reasonably give up. I'm going to be 39 in June and I'm very afraid of a chromosomal problem, trisomy 21. The risk increases so much every month that I wouldn't want to take it anymore.

I found out I was pregnant on 02/02/2023, Marius' 3rd birthday. We're thrilled, we'd been trying every month for 6 months, whereas the previous 2 times I'd fallen pregnant on the first cycle. I quickly became very tired. I tell myself it's my age. Marius often wakes up at night, and work is more grueling... I take naps whenever I can, but despite that, from 6pm onwards, all I dream about is going to bed! I'm afraid of a clear egg. I get echoes at work every shift (I'm an ER doctor).

The "egg" is well and truly in the uterus, and the "pouch" is growing as it should.

We go on a skiing vacation. When we return, we have the dating echo. The heart is beating well. I'm getting more and more tired, so much so that I ask my doctor to stop at T1. The night shifts are getting harder and harder, and during the day it's the same thing. The ultrasound is normal, everything's fine! I'm convinced I'm expecting a baby girl. My gynecologist confirms that he thinks it's a girl, but it's still too early to be sure. I've never been wrong about my 3 previous pregnancies. My husband was sure it was a boy, but he's so reassured that everything's fine.

I do the triage test right away, as I did for Olivia and Marius. For Jade, the ultrasound was so abnormal that we went straight to amniocentesis. My gynecologist called me a week later to tell me that the results weren't very good. I'm nearly 39, and I suspected that the risk would be > 1/1000 and that I'd have to do the dpni. However, when he told me 1/119, I said to myself that it's still a lot more than I thought. I'm going to do the dpni right away, the results take at least a week to arrive so I don't want to delay things.

However, 48 hours later, I receive an e-mail saying that the results have been returned to my doctor. I think to myself, this is strange. By the end of the day, I'm starting to feel stressed. With no call from my doctor, I decide to get his number and send him a message. With a 3-day weekend coming up, I can't wait that long. Unfortunately, he doesn't have access to the results; he'll look at them on Tuesday morning. For him, it's quick but possible, and that doesn't mean anything.

I keep telling myself that it's strange, the results went out on Wednesday to the other side of France and by Friday lunchtime they were back. I stress all weekend. On Tuesday morning, I accompany Olivia on a field trip with her class. Her class is divided into 2 groups, so I'm first with hers and then with the other part of her class. My phone rings during the 2nd part of the visit. My gynecologist tells me that the dpni is positive. Our baby has a very high risk of having trisomy 21.

The tears are flowing and I try to pull myself together so as not to show Olivia when her group comes back that I'm not all right, but I finally cry when her teacher asks me if I'm all right. I explain to Olivia that the baby, her little sister, may be in trouble and that we need to do some tests. 

My gynecologist initially scheduled a choriocentesis for me and Jade on the following Friday. In the end, we decided to wait until 16sa, almost 2 weeks later, because very rarely, but it does happen, the placenta is "sick" but not the baby. A study on choriocentesis evaluates the placenta as well as the dpni, so I'm holding on to the probability that my baby, my little girl, will be fine.

Two weeks later we had an appointment with my gynecologist for amniocentesis. My husband left us for the examination to go back to the secretariat to make our entrance. The secretary tried for more than 20 minutes but couldn't do it. So I'm on my own for the examination, as I was the first time.

My gynecologist did a quick ultrasound to see if any abnormalities had appeared since the last one. And it's the case: the neck has thickened, it's all edematous and there are cysts on the brain. My world fell apart, I lost all hope, I knew my baby had Down's syndrome. I tell my husband as I go downstairs to the secretary's office. My gynecologist confirms the diagnosis the next day. The IMG is scheduled for the following Friday, at 16sa +5 days.

I take the tablets on Wednesdays to mature the cervix. The department manager's replacement talks to us about refusing to have a funeral, about being named in the family record book if you so wish. My husband fell head over heels and realized everything at that moment. He didn't remember any of this, even though we'd already been through it with Jade.

I told the kids over FaceTime that the baby wasn't doing well. I went to buy a cuddly toy for them to talk to their little sister. Olivia tells my mom it's not fair. She remembers her little sister Jade. She even told us the day we told her about the pregnancy that there should be 4 of them with this baby. She hasn't forgotten that, even though she was only 3 at the time, the same age as Marius now...

Appointment with the anaesthetist by telephone on Thursday, he tells me about general anaesthesia, deep sedation. I panic, I don't want anything. For Jade, I simply had atarax and felt little or nothing. I tell myself it's probably because the term is more advanced (2 weeks more).

The day of the IMG arrives quickly, perhaps even too quickly. An hour after taking the pill, my water broke. I wasn't expecting it. For Jade, my water hadn't broken. Two hours later, i.e. 3 hours after taking the tablet, I literally felt something "click" in my stomach. My husband went to get some fresh air, I went to the bathroom and felt I was bleeding.

Our baby came out in the toilet! I panicked, grabbed him in my hand and called the midwife on the doorbell. She asked me if I could go back and lie down, but I said, "I can't, it's in my hand". That image haunts me to this day. We then went up to the delivery room to deliver the placenta. My gynecologist, who was on call that day, arrived. I can still see his face, he was so sorry.

I felt nothing this time, or almost nothing. It's amazing how our brains can ignore bodily sensations. For Marius and Olivia's deliveries, my water broke before any contractions and once I went into labor, I was in SO MUCH pain! And then, once again, nothing or almost nothing.

The midwife asks us if we want to see our baby, and if we have a name. We had chosen Alba, but as I wasn't officially sure, I asked her if it was a little girl. She tells me that she thinks it's a boy, but that it's not easy at this stage... Stunned. My husband leaves the room, and I'm left alone. We have to be sure, because I can't tell the kids when they come home the next day that it "might" be a boy after all.

The midwives bring it to us. I can't take it, it's so small... 130g. My gynecologist, called by the midwives, confirms that he thinks it's a boy, but that we'll know for sure when we have the definitive karyotype. We decided to call him Ari. It's a Tahitian name meaning deep water with a pleasant song. It's an obvious choice.

This is our story, my story of motherhood. As I told you, I'll be 39 in 2 weeks. Ari was born just over 3 weeks ago now. I know my motherhood can't end like this, but I'm scared to death of getting pregnant again.

I saw my gynecologist yesterday, and the karyotype confirms that it's Ari and that, once again, what happened was accidental, due to bad luck, a 2nd time. A priori, there is no major risk of recurrence... But what was the risk after a first chromosomal anomaly? What was the risk with a completely normal first ultrasound? The risk is 1%. That may not sound like much, but it was the risk with a normal ultrasound, so for me it's enormous. 

I know that we'll soon be trying for a 5th pregnancy. I know that I'll be on the lookout for the slightest sign and especially for this intense fatigue that, in retrospect, was there for Jade but not for Marius or Olivia. I know that this pregnancy, if it happens, won't be serene, but I also know that I can't stop there in my story of motherhood. 

And now I've just rewritten my whole story, even though I'd recorded it on my phone... Words help me, I think, and I tell myself that maybe it can help other moms who, like me, are facing so many trials in their motherhood."

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