u/H-e-b-f

I posted here last week when we were in the middle of uncertainty after abnormal ultrasound findings. I wanted to give an update on where things have landed after further assessment. We’ve now been seen by fetal medicine specialists at a tertiary hospital, and the picture has become clearer.

The doctors have told us there is a very high likelihood of Trisomy 18, and that if the upcoming NIPT results are positive, the probability in combination with the ultrasound findings is estimated to be around 99%.

The ultrasound findings include multiple concerning markers:
- Significant fetal growth restriction (especially abdominal circumference)
- Abnormal hand positioning
- Cranial shape described as “strawberry-shaped”
- Cardiac abnormality
- Marginal cord insertion on the placenta
- Additional findings including suspected brain cysts

We did not proceed with amniocentesis, as I was scared to do so, at the same time that I felt that we have what we need and the fetal medicine team felt the overall picture was already severe enough that it would likely not change the high degree of issues.

We have also already submitted an application to the termination board, as the clinical team has been very clear about the severity of the findings and poor prognosis.

If NIPT confirms Trisomy 18, we are likely to proceed with termination as soon as the system allows. If not we will proceed with an amniocentesis just to make sure what has caused the severe developmental issues with our child. There could be findings with amniocentesis that indicate that our child could live a little longer than a couple of days. But I can’t do it. I don’t want my child to suffer, no matter the extent of her genetic disorder. Not with the findings we’ve had on both ultrasounds.

Emotionally, we’ve moved from shock and uncertainty into something that feels more like anticipatory grief and preparation. We’re trying to support each other and take things step by step. Only a week ago we thought everything was fine and that we would welcome our daughter in October. But even in the heartbreak we know we’re so blessed to have such an efficient and available healthcare system, and so many people who love and care for us.

Thank you to everyone who responded earlier. It has helped more than I can explain. All I can say is that I’ve felt less alone, and even though this is a community with so many heartbreaking stories- I find such comfort in knowing we can help each other.

Love from Helene, Henrik and our beloved daughter Marie

I’m 18+3 weeks pregnant and had a scan at the hospital yesterday that completely turned our world upside down. The first ultrasound, six weeks ago, indicated that everything was normal.

This scan was different. Multiple technicians were involved in the ultrasound, and they found several concerning things:
- The baby’s wrists/hands appeared “bent” or in an abnormal position for a prolonged time during the scan
- Growth is slightly behind expected for gestational age
- The heart position was noted as slightly more left than usual
- The bladder looked mildly enlarged

At the same time, the baby is very active, moving a lot, and limb proportions otherwise looked normal
Early ultrasound and nuchal translucency were normal
Because of the combination of findings, they are concerned about possible chromosomal abnormalities or other serious underlying conditions. We were told that conditions like trisomy 18 or 13 need to be ruled out, and we are being referred urgently to a fetal medicine specialist for further evaluation and possible testing (including amniocentesis). They’ve already taken a blood test (after the ultrasound) — I believe it was NIPT, or at least a genetic screening for chromosomal abnormalities.

We were also told very clearly that, depending on findings, termination of pregnancy could become a discussion point. That hit us extremely hard.
Right now we are stuck in complete uncertainty. We don’t know if this is:
- something severe and life-limiting
- a chromosomal condition like Down syndrome or something rarer
- or a structural/isolated issue that might turn out to be less serious or even benign

Mentally, this is extremely hard. My biggest fear is not only losing the pregnancy, but also the possibility of having a child with significant lifelong disabilities or a very short life expectancy. At the same time, we are terrified of making assumptions before we have answers.

We are waiting to be contacted by the hospital, and every hour in this limbo feels unbearable. I’ panicked, and can’t stop crying. Does anyone have any insight or advice that could help us?